A comprehensive review of genetic association studies.
paper
Cited
Public
Unavailable
- Authors
- Hirschhorn, Joel N; Lohmueller, Kirk; Byrne, Edward; Hirschhorn, Kurt
- Year
- 2002
- Journal
- Genetics in medicine : official journal of the American College of Medical Genetics
- PMID
- 11882781
- DOI
- 10.1097/00125817-200203000-00002
Most common diseases are complex genetic traits, with multiple genetic and environmental components contributing to susceptibility. It has been proposed that common genetic variants, including single nucleotide polymorphisms (SNPs), influence susceptibility to common disease. This proposal has begun to be tested in numerous studies of association between genetic variation at these common DNA polymorphisms and variation in disease susceptibility. We have performed an extensive review of such association studies. We find that over 600 positive associations between common gene variants and disease have been reported; these associations, if correct, would have tremendous importance for the prevention, prediction, and treatment of most common diseases. However, most reported associations are not robust: of the 166 putative associations which have been studied three or more times, only 6 have been consistently replicated. Interestingly, of the remaining 160 associations, well over half were observed again one or more times. We discuss the possible reasons for this irreproducibility and suggest guidelines for performing and interpreting genetic association studies. In particular, we emphasize the need for caution in drawing conclusions from a single report of an association between a genetic variant and disease susceptibility.
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| Genetic aspects of thrombotic disease. | GarcΓa de Frutos P et al. | β | 2015 | β |
| Genetic susceptibility to oral cancer due to combined effects of GSTT1, GSTM1 and CYP1A1 gene variants in tobacco addicted patients of Pashtun ethnicity of Khyber Pakhtunkhwa province of Pakistan. | Zakiullah et al. | β | 2015 | β |
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| HIF-1Ξ± -1790G>A polymorphism significantly increases the risk of digestive tract cancer: a meta-analysis. | Sun X et al. | β | 2015 | β |
| Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR). | De R et al. | β | 2015 | β |
| Increased risk of developing lung cancer in Asian patients carrying the TERT rs2736098 G>A polymorphism: evidence from 3,354 cases and 3,518 controls. | Yang Z et al. | β | 2015 | β |
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| Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression. | Lu X et al. | β | 2015 | β |
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| Polycyclic Aromatic Hydrocarbons and Breast Cancer: A Review of the Literature. | Korsh J et al. | β | 2015 | β |
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| Circadian rhythms and mood: opportunities for multi-level analyses in genomics and neuroscience: circadian rhythm dysregulation in mood disorders provides clues to the brain's organizing principles, and a touchstone for genomics and neuroscience. | Li JZ | β | 2014 | β |
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| Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal. | Gaio V et al. | β | 2014 | β |
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| IL-1Ξ± -889 C/T polymorphism and cancer susceptibility: a meta-analysis. | Cheng D et al. | β | 2014 | β |
| Impact of caspase-8 (CASP8) -652 6N del and D302H polymorphisms on prostate cancer in different ethnic groups. | Zhang CD et al. | β | 2014 | β |
| In search of rare variants: preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes. | Vrieze SI et al. | β | 2014 | β |
| Jumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic Epidemiology. | Li A et al. | β | 2014 | β |
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| Lack of association between MTHFR Ala222Val and Glu429Ala polymorphisms and bladder cancer risk: A meta-analysis of case-control studies. | Shi R et al. | β | 2014 | β |
| Lack of genetic susceptibility of KCNJ11 E23K polymorphism with risk of type 2 diabetes in an Iranian population. | Keshavarz P et al. | β | 2014 | β |
| MGMT Leu84Phe gene polymorphism and lung cancer risk: a meta-analysis. | Qiu ZX et al. | β | 2014 | β |
| Mutations in Ovis aries TMEM154 are associated with lower small ruminant lentivirus proviral concentration in one sheep flock. | Alshanbari FA et al. | β | 2014 | β |
| No evidence of correlation between p53 codon 72 Gβ>βC gene polymorphism and cancer risk in Indian population: a meta-analysis. | Mandal RK et al. | β | 2014 | β |
| Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants. | Sayols-Baixeras S et al. | β | 2014 | β |
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| Polymorphisms and plasma level of transforming growth factor-Beta 1 and risk for preeclampsia: a systematic review. | Li X et al. | β | 2014 | β |
| Positive association between lymphotoxin-alpha variation rs909253 and cancer risk: a meta-analysis based on 36 case-control studies. | Yu X et al. | β | 2014 | β |
| Powered for success: considerations for using the candidate gene approach in rheumatic diseases in the post-genomics era. | O'Rielly DD et al. | β | 2014 | β |
| Quantitative assessment of the association between miR-196a2 rs11614913 polymorphism and cancer risk: evidence based on 45,816 subjects. | Kang Z et al. | β | 2014 | β |
| Quantitative assessment of the association between XPG Asp1104His polymorphism and bladder cancer risk. | Liu C et al. | β | 2014 | β |
| Quantitative assessment of the influence of prostate stem cell antigen polymorphisms on gastric cancer risk. | Gu X et al. | β | 2014 | β |
| Quantitative assessment of the influence of TP63 gene polymorphisms and lung cancer risk: evidence based on 93,751 subjects. | Zhang L et al. | β | 2014 | β |
| Reappraisal of known malaria resistance loci in a large multicenter study. | Malaria Genomic Epidemiology Network et al. | β | 2014 | β |
| Regulator of telomere elongation helicase 1 (RTEL1) rs6010620 polymorphism contribute to increased risk of glioma. | Zhao W et al. | β | 2014 | β |
| Results of a "GWAS plus:" general cognitive ability is substantially heritable and massively polygenic. | Kirkpatrick RM et al. | β | 2014 | β |
| Statin myotoxicity: a review of genetic susceptibility factors. | Needham M et al. | β | 2014 | β |
| Statistical genetics with application to population-based study design: a primer for clinicians. | Beyene J et al. | β | 2014 | β |
| Statistical power and significance testing in large-scale genetic studies. | Sham PC et al. | β | 2014 | β |
| Supervised categorical principal component analysis for genome-wide association analyses. | Lu M et al. | β | 2014 | β |
| Survivin rs9904341 (G>C) polymorphism contributes to cancer risk: an updated meta-analysis of 26 studies. | Xu L et al. | β | 2014 | β |
| The APE1 Asp148Glu polymorphism and colorectal cancer susceptibility: a meta-analysis. | Shen E et al. | β | 2014 | β |
| The incidence of liver injury in Uyghur patients treated for TB in Xinjiang Uyghur autonomous region, China, and its association with hepatic enzyme polymorphisms nat2, cyp2e1, gstm1 and gstt1. | Xiang Y et al. | β | 2014 | β |
| The interaction effects of pri-let-7a-1 rs10739971 with PGC and ERCC6 gene polymorphisms in gastric cancer and atrophic gastritis. | Xu Q et al. | β | 2014 | β |
| TNF-Ξ± and IFN-Ξ³ gene variation and genetic susceptibility to type 1 diabetes and its microangiopathic complications. | Bazzaz JT et al. | β | 2014 | β |
| Xeroderma pigmentosum group D polymorphisms and esophageal cancer susceptibility: a meta-analysis based on case-control studies. | Yang R et al. | β | 2014 | β |
| XPG Asp1104His polymorphism and gastrointestinal cancers risk: a meta-analysis. | Luo JF et al. | β | 2014 | β |
| XRCC3 Thr241Met polymorphism and gastric cancer susceptibility: a meta-analysis. | Qin XP et al. | β | 2014 | β |
| AdipoQ polymorphisms are associated with type 2 diabetes mellitus: a meta-analysis study. | Chu H et al. | β | 2013 | β |
| Advances in the genomics of common eye diseases. | Cooke Bailey JN et al. | β | 2013 | β |
| Assessing interactions between the association of common genetic variant at 1p11 (rs11249433) and hormone receptor status with breast cancer risk. | Chen Q et al. | β | 2013 | β |
| Assessment of systematic effects of methodological characteristics on candidate genetic associations. | Aljasir B et al. | β | 2013 | β |
| Association between microRNA polymorphisms and cancer risk based on the findings of 66 case-control studies. | Ma XP et al. | β | 2013 | β |
| Association between TGF-Ξ²1 polymorphisms and hepatocellular carcinoma risk: a meta-analysis. | Guo Y et al. | β | 2013 | β |
| Association of vitamin D receptor gene polymorphisms with susceptibility to asthma in Tunisian children: A case control study. | Maalmi H et al. | β | 2013 | β |
| Bench-to-bedside review: future novel diagnostics for sepsis - a systems biology approach. | Skibsted S et al. | β | 2013 | β |
| Cardiovascular pharmacogenomics: the future of cardiovascular therapeutics? | Roden DM | β | 2013 | β |
| Challenges in reproducibility of genetic association studies: lessons learned from the obesity field. | Li A et al. | β | 2013 | β |
| Child development and molecular genetics: 14 years later. | Plomin R | β | 2013 | β |
| Clinical neurogenetics: stroke. | Rost NS | β | 2013 | β |
| Converging Evidence for Epistasis between ANK3 and Potassium Channel Gene KCNQ2 in Bipolar Disorder. | Judy JT et al. | β | 2013 | β |
| Current evidence on the relationship between three polymorphisms in the XRCC7 gene and cancer risk. | Zhang J et al. | β | 2013 | β |
| CYP1A1 exon7 polymorphism is associated with lung cancer risk among the female population and among smokers: a meta-analysis. | Xu CH et al. | β | 2013 | β |
| Distinguishing true from false positives in genomic studies: p values. | Broer L et al. | β | 2013 | β |
| Effects of common polymorphism rs11614913 in Hsa-miR-196a2 on lung cancer risk. | Yuan Z et al. | β | 2013 | β |
| Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records. | McDavid A et al. | β | 2013 | β |
| Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate. | Leslie EJ et al. | β | 2013 | β |
| Evidence for a Heritable Brain Basis to Deviance-Promoting Deficits in Self-Control. | Yancey JR et al. | β | 2013 | β |
| FASL rs763110 polymorphism contributes to cancer risk: an updated meta-analysis involving 43,295 subjects. | Xu L et al. | β | 2013 | β |
| Genetic association analysis of vitamin D pathway with obesity traits. | Vimaleswaran KS et al. | β | 2013 | β |
| Genetic biomarkers and exercise-related injuries: current clinical applications? | Schwellnus MP | β | 2013 | β |
| Genome wide analysis reveals single nucleotide polymorphisms associated with fatness and putative novel copy number variants in three pig breeds. | Fowler KE et al. | β | 2013 | β |
| Genome wide association studies in presence of misclassified binary responses. | Smith S et al. | β | 2013 | β |
| "He who sees things grow from the beginning will have the finest view of them" a systematic review of genetic studies on psychological traits in infancy. | Papageorgiou KA et al. | β | 2013 | β |
| Increased risk of developing digestive tract cancer in subjects carrying the PLCE1 rs2274223 A>G polymorphism: evidence from a meta-analysis. | Zhang X et al. | β | 2013 | β |
| Interplay between Misplaced MΓΌllerian-Derived Stem Cells and Peritoneal Immune Dysregulation in the Pathogenesis of Endometriosis. | LaganΓ AS et al. | β | 2013 | β |
| Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing. | Westbrook MJ et al. | β | 2013 | β |
| Mediation analysis reveals a sex-dependent association between ABO gene variants and TG/HDL-C ratio that is suppressed by sE-selectin level. | Teng MS et al. | β | 2013 | β |
| Meta-analyses of the 5-HTTLPR polymorphisms and post-traumatic stress disorder. | Navarro-Mateu F et al. | β | 2013 | β |
| Methotrexate pharmacogenetics in rheumatoid arthritis: a status report. | Malik F et al. | β | 2013 | β |
| MGMT Leu84Phe polymorphism contributes to cancer susceptibility: evidence from 44 case-control studies. | Liu J et al. | β | 2013 | β |
| Modern vitiligo genetics sheds new light on an ancient disease. | Spritz RA | β | 2013 | β |
| Nociceptive stimuli responses at different levels of general anaesthesia and genetic variability. | Storm H et al. | β | 2013 | β |
| Pathways systematically associated to Hirschsprung's disease. | FernΓ‘ndez RM et al. | β | 2013 | β |
| Plasminogen activator inhibitor-1 4G/5G polymorphism and retinopathy risk in type 2 diabetes: a meta-analysis. | Zhang T et al. | β | 2013 | β |
| Polymorphisms of DNA repair gene XRCC1 and hepatocellular carcinoma risk among East Asians: a meta-analysis. | Li J et al. | β | 2013 | β |
| Prostate cancer risk-associated genetic markers and their potential clinical utility. | Xu J et al. | β | 2013 | β |
| Randomised phase II trial (NCT00637975) evaluating activity and toxicity of two different escalating strategies for pregabalin and oxycodone combination therapy for neuropathic pain in cancer patients. | Garassino MC et al. | β | 2013 | β |
| Retroviral infections in sheep and goats: small ruminant lentiviruses and host interaction. | Larruskain A et al. | β | 2013 | β |
| Smoking status modifies the relation between CYP1A1*2C gene polymorphism and idiopathic male infertility: the importance of gene-environment interaction analysis for genetic studies of the disease. | Yarosh SL et al. | β | 2013 | β |
| SNP-SNP interaction network in angiogenesis genes associated with prostate cancer aggressiveness. | Lin HY et al. | β | 2013 | β |
| STAT3 polymorphism can predict the response to interferon-Ξ± therapy in patients with metastatic renal cell carcinoma. | Eto M et al. | β | 2013 | β |
| Tamoxifen-induced venothromboembolic events: exploring validation of putative genetic association. | Glurich I et al. | β | 2013 | β |
| The -160C>a polymorphism in E-cadherin is associated with the risk of nephrolithiasis. | Tan M et al. | β | 2013 | β |
| The -607C/A polymorphisms in interleukin-18 gene promoter contributes to cancer risk: evidence from a meta-analysis of 22 case-control studies. | Wang M et al. | β | 2013 | β |
| The -7351C/T polymorphism in the TPA gene and ischemic stroke risk: a meta-analysis. | Sun X et al. | β | 2013 | β |
| The -842G/C polymorphisms of PIN1 contributes to cancer risk: a meta-analysis of 10 case-control studies. | Xu HR et al. | β | 2013 | β |
| The role of the renin-angiotensin-aldosterone system in preeclampsia: genetic polymorphisms and microRNA. | Yang J et al. | β | 2013 | β |
| The XRCC1 Arg399Gln genetic polymorphism contributes to hepatocellular carcinoma susceptibility: an updated meta-analysis. | Pan Y et al. | β | 2013 | β |
| VEGF +936C/T and +460C/T gene polymorphisms and oral cancer risk: a meta-analysis. | Zhao SF et al. | β | 2013 | β |
| XRCC3 Thr241Met gene polymorphisms and lung cancer risk: a meta-analysis. | Zhan P et al. | β | 2013 | β |
| A functional +61G/A polymorphism in epidermal growth factor is associated with glioma risk among Asians. | Xu X et al. | β | 2012 | β |
| A meta-analysis of Ξ²1-adrenergic receptor gene polymorphisms in idiopathic dilated cardiomyopathy. | Jin B et al. | β | 2012 | β |
| Association between CYP1A1 polymorphism and colorectal cancer risk: a meta-analysis. | Zheng Y et al. | β | 2012 | β |
| Association between IL6 -174G/C and cancer: A meta-analysis of 105,482 individuals. | Liu RY et al. | β | 2012 | β |
| Association between survivin -31G > C promoter polymorphism and cancer risk: a meta-analysis. | Wang X et al. | β | 2012 | β |
| Association between the COMT Val158Met polymorphism and breast cancer risk: a meta-analysis of 30,199 cases and 38,922 controls. | He XF et al. | β | 2012 | β |
| Association between the OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and lung cancer risk: a meta-analysis. | Wei W et al. | β | 2012 | β |
| Association of GSTM1 null allele with prostate cancer risk: evidence from 36 case-control studies. | Wei B et al. | β | 2012 | β |
| Association of IRS-1 and IRS-2 genes polymorphisms with polycystic ovary syndrome: a meta-analysis. | Ruan Y et al. | β | 2012 | β |
| Association study of GIT1 gene with attention-deficit hyperactivity disorder in Brazilian children and adolescents. | Salatino-Oliveira A et al. | β | 2012 | β |
| Behavior genetics and postgenomics. | Charney E | β | 2012 | β |
| Bigger, better, sooner--scaling up for success. | Thun MJ et al. | β | 2012 | β |
| CDH1 promoter polymorphism and stomach cancer susceptibility. | Li YL et al. | β | 2012 | β |
| Chromosome 11q13.3 variant modifies renal cell cancer risk in a Chinese population. | Cao Q et al. | β | 2012 | β |
| Clinical response and side effects of metoclopramide: associations with clinical, demographic, and pharmacogenetic parameters. | Parkman HP et al. | β | 2012 | β |
| Consistency of HLA associations between two independent measles vaccine cohorts: a replication study. | Ovsyannikova IG et al. | β | 2012 | β |
| Convergence of genome-wide association and candidate gene studies for alcoholism. | Olfson E et al. | β | 2012 | β |
| CXCL12 G801A polymorphism and breast cancer risk: a meta-analysis. | Shen W et al. | β | 2012 | β |
| CYP1A1 Ile462Val polymorphism contributes to lung cancer susceptibility among lung squamous carcinoma and smokers: a meta-analysis. | Ji YN et al. | β | 2012 | β |
| CYP1A1 MspI polymorphisms and lung cancer risk: an updated meta-analysis involving 20,209 subjects. | Ji YN et al. | β | 2012 | β |
| DNA polymorphisms and tissue cyclooxygenase-2 expression in oral lichen planus: a case-control study. | Abdel Hay RM et al. | β | 2012 | β |
| Evaluation of published single nucleotide polymorphisms associated with acute GVHD. | Chien JW et al. | β | 2012 | β |
| FCRL3 gene polymorphisms contribute to the radiographic severity rather than susceptibility of rheumatoid arthritis. | Han SW et al. | β | 2012 | β |
| Gene-environment interactions in the development of asthma and atopy. | Custovic A et al. | β | 2012 | β |
| Genetic heritability of ischemic stroke and the contribution of previously reported candidate gene and genomewide associations. | Bevan S et al. | β | 2012 | β |
| Genetics of peripheral artery disease. | Leeper NJ et al. | β | 2012 | β |
| Genetic susceptibility to type 2 diabetes: a global meta-analysis studying the genetic differences in Tunisian populations. | Berhouma R et al. | β | 2012 | β |
| Genome technologies and personalized dental medicine. | Eng G et al. | β | 2012 | β |
| Genotype-Based Bayesian Analysis of Gene-Environment Interactions with Multiple Genetic Markers and Misclassification in Environmental Factors. | Lobach I et al. | β | 2012 | β |
| GSTM1 and GSTT1 polymorphisms and colorectal cancer risk in Chinese population: a meta-analysis. | Wang D et al. | β | 2012 | β |
| Hsa-miR-499 polymorphism (rs3746444) and cancer risk: a meta-analysis of 17 case-control studies. | Wang Y et al. | β | 2012 | β |
| Immunological responses to Clostridium perfringens alpha-toxin in two genetically divergent lines of chickens as influenced by major histocompatibility complex genotype. | Sumners LH et al. | β | 2012 | β |
| Individual and combined effects of MDM2 SNP309 and TP53 Arg72Pro on breast cancer risk: an updated meta-analysis. | Cheng H et al. | β | 2012 | β |
| Insights into Assessing the Genetics of Endometriosis. | Rahmioglu N et al. | β | 2012 | β |
| Interaction between filaggrin null mutations and tobacco smoking in relation to asthma. | Berg ND et al. | β | 2012 | β |
| Interleukin-4 rs2243250 polymorphism is associated with asthma among Caucasians and related to atopic asthma. | Liu S et al. | β | 2012 | β |
| Invited commentary: more surprises from a gene desert. | Wacholder S et al. | β | 2012 | β |
| Is there a genetic cause of appetite loss?-an explorative study in 1,853 cancer patients. | Solheim TS et al. | β | 2012 | β |
| Lack of an association between the XRCC1 Arg399Gln polymorphism and gastric cancer based on a meta-analysis. | Liu BM et al. | β | 2012 | β |
| MDM2 SNP309 polymorphism and colorectal cancer risk: a meta-analysis. | Cao X et al. | β | 2012 | β |
| Meta-analysis confirms that a common G/C variant in the pre-miR-146a gene contributes to cancer susceptibility and that ethnicity, gender and smoking status are risk factors. | Wang AX et al. | β | 2012 | β |
| Meta-analysis of epidermal growth factor polymorphisms and cancer risk: involving 9,779 cases and 15,932 controls. | Li TF et al. | β | 2012 | β |
| miR-499 rs3746444 polymorphism is associated with cancer development among Asians and related to breast cancer susceptibility. | Chen P et al. | β | 2012 | β |
| Most reported genetic associations with general intelligence are probably false positives. | Chabris CF et al. | β | 2012 | β |
| Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration. | Baas DC et al. | β | 2012 | β |
| No association of GSTM1 null polymorphism with endometriosis in women from central and southern Iran. | Seifati SM et al. | β | 2012 | β |
| No association of the MTHFR gene A1298C polymorphism with the risk of prostate cancer: A meta-analysis. | Li D et al. | β | 2012 | β |
| One thing leads to another: the cascade of obligations when researchers report genetic research results to study participants. | Miller FA et al. | β | 2012 | β |
| Promises and challenges of pharmacogenetics: an overview of study design, methodological and statistical issues. | Ross S et al. | β | 2012 | β |
| Resolving the variable genome and epigenome in human disease. | Knight JC | β | 2012 | β |
| Sample size and statistical power calculation in genetic association studies. | Hong EP et al. | β | 2012 | β |
| Search for genetic association between IgA nephropathy and candidate genes selected by function or by gene mapping at loci IGAN2 and IGAN3. | Bertinetto FE et al. | β | 2012 | β |
| Simple f test reveals gene-gene interactions in case-control studies. | Chen G et al. | β | 2012 | β |
| Single nucleotide polymorphisms and outcome risk in unrelated mismatched hematopoietic stem cell transplantation: an exploration study. | Harkensee C et al. | β | 2012 | β |
| Six decades of vitiligo genetics: genome-wide studies provide insights into autoimmune pathogenesis. | Spritz RA | β | 2012 | β |
| SNP interaction detection with Random Forests in high-dimensional genetic data. | Winham SJ et al. | β | 2012 | β |
| Strong association of methylenetetrahydrofolate reductase gene C677T polymorphism with hypertension and hypertension-in-pregnancy in Chinese: a meta-analysis. | Niu WQ et al. | β | 2012 | β |
| The CXCL12 G801A polymorphism and cancer risk: evidence from 17 case-control studies. | Gong H et al. | β | 2012 | β |
| The functional Ser326Cys polymorphism in hOGG1 is associated with gastric cancer risk: evidence from 1180 cases and 2444 controls. | Ni M et al. | β | 2012 | β |
| The general public's understanding and perception of direct-to-consumer genetic test results. | Leighton JW et al. | β | 2012 | β |
| The genetic epidemiology of idiopathic scoliosis. | Gorman KF et al. | β | 2012 | β |
| The GNB3 C825T polymorphism influences platelet aggregation in human whole blood. | Dusse F et al. | β | 2012 | β |
| The promise of pharmacogenetics in labor analgesiaβ¦tantalizing, but not there yet. | Wong CA | β | 2012 | β |
| TP53 codon 72 polymorphism with hepatocellular carcinoma: a metaanalysis. | Ding C et al. | β | 2012 | β |
| Tracking replicability as a method of post-publication open evaluation. | Hartshorne JK et al. | β | 2012 | β |
| What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations. | Panagiotou OA et al. | β | 2012 | β |
| XPA A23G polymorphism and lung cancer risk: a meta-analysis. | Zou JH et al. | β | 2012 | β |
| XPA A23G polymorphism and susceptibility to cancer: a meta-analysis. | Liu J et al. | β | 2012 | β |
| XPD Asp312Asn polymorphism is a risk factor for prostate cancer. | Liao SG et al. | β | 2012 | β |
| XPD Lys751Gln polymorphism and esophageal cancer susceptibility: a meta-analysis of case-control studies. | Ding DP et al. | β | 2012 | β |
| A flexible genome-wide bootstrap method that accounts for ranking and threshold-selection bias in GWAS interpretation and replication study design. | Faye LL et al. | β | 2011 | β |
| Analysis of gene-gene interactions. | Gilbert-Diamond D et al. | β | 2011 | β |
| APE1 Asp148Glu gene polymorphism and lung cancer risk: a meta-analysis. | Ji YN et al. | β | 2011 | β |
| Association analysis of the LTA4H gene polymorphisms and pulmonary tuberculosis in 9115 subjects. | Curtis J et al. | β | 2011 | β |
| Association genetics of wood physical traits in the conifer white spruce and relationships with gene expression. | Beaulieu J et al. | β | 2011 | β |
| Association of hydroxyprostaglandin dehydrogenase 15-(NAD) (HPGD) variants and colorectal cancer risk. | Frank B et al. | β | 2011 | β |
| Association of PPP2CA polymorphisms with systemic lupus erythematosus susceptibility in multiple ethnic groups. | Tan W et al. | β | 2011 | β |
| A systems genetics approach provides a bridge from discovered genetic variants to biological pathways in rheumatoid arthritis. | Nakaoka H et al. | β | 2011 | β |
| AVPR1A variant associated with preschoolers' lower altruistic behavior. | Avinun R et al. | β | 2011 | β |
| Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe). | Sobrin L et al. | β | 2011 | β |
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| Common polymorphisms in KCNJ5 [corrected] are associated with early-onset lone atrial fibrillation in Caucasians. | Jabbari J et al. | β | 2011 | β |
| Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. | Birlea SA et al. | β | 2011 | β |
| Current evidences on vascular endothelial growth factor polymorphisms and breast cancer susceptibility. | Qiu LX et al. | β | 2011 | β |
| Current evidences on XPC polymorphisms and breast cancer susceptibility: a meta-analysis. | Zheng W et al. | β | 2011 | β |
| Cyclin D1 G870A polymorphism and colorectal cancer susceptibility: a meta-analysis of 20 populations. | Zhang LQ et al. | β | 2011 | β |
| CYP1A1 MspI and exon7 gene polymorphisms and lung cancer risk: an updated meta-analysis and review. | Zhan P et al. | β | 2011 | β |
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| Effect of day care attendance on sensitization and atopic wheezing differs by Toll-like receptor 2 genotype in 2 population-based birth cohort studies. | Custovic A et al. | β | 2011 | β |
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| ESR1 promoter polymorphism is not associated with nonsyndromic cryptorchidism. | Lo Giacco D et al. | β | 2011 | β |
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| Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23. | Erdmann J et al. | β | 2011 | β |
| Glutathione S-transferase P1 Ile105Val polymorphism and breast cancer risk: a meta-analysis involving 34,658 subjects. | Lu S et al. | β | 2011 | β |
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| GSTM1 null allele is a risk factor for gastric cancer development in Asians. | Qiu LX et al. | β | 2011 | β |
| HLA-DR4 antigen and idiopathic dilated cardiomyopathy susceptibility: a meta-analysis involving 11,761 subjects. | Jin B et al. | β | 2011 | β |
| Hsa-miR-196a2 Rs11614913 polymorphism contributes to cancer susceptibility: evidence from 15 case-control studies. | Chu H et al. | β | 2011 | β |
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| Lack of an association between AURKA T91A polymorphisms and breast cancer: a meta-analysis involving 32,141 subjects. | Sun H et al. | β | 2011 | β |
| Lack of association between methylenetetrahydrofolate reductase gene A1298C polymorphism and breast cancer susceptibility. | Qiu LX et al. | β | 2011 | β |
| Lack of association between XPD Lys751Gln and Asp312Asn polymorphisms and colorectal cancer risk: a meta-analysis of case-control studies. | Zhang Y et al. | β | 2011 | β |
| Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a meta-analysis of case-control studies. | Ding DP et al. | β | 2011 | β |
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| Meta-analysis of haplotype-association studies: comparison of methods and empirical evaluation of the literature. | Bagos PG | β | 2011 | β |
| Meta-based association of the lipoprotein lipase gene S447X variant with hypertension and blood pressure variation. | Niu WQ et al. | β | 2011 | β |
| miR-196a2 C allele is a low-penetrant risk factor for cancer development. | Qiu LX et al. | β | 2011 | β |
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| RAD51 G135C polymorphism is associated with breast cancer susceptibility: a meta-analysis involving 22,399 subjects. | Sun H et al. | β | 2011 | β |
| Ranking insertion, deletion and nonsense mutations based on their effect on genetic information. | Zia A et al. | β | 2011 | β |
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| The role of polymorphisms in Toll-like receptors and their associated intracellular signaling genes in measles vaccine immunity. | Ovsyannikova IG et al. | β | 2011 | β |
| TNF-308 gene polymorphism is associated with COPD risk among Asians: meta-analysis of data for 6,118 subjects. | Zhan P et al. | β | 2011 | β |
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| -765G>C and 8473T>C polymorphisms of COX-2 and cancer risk: a meta-analysis based on 33 case-control studies. | Zhu W et al. | β | 2010 | β |
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| Association between DRD4 gene polymorphism and personality variation in great tits: a test across four wild populations. | Korsten P et al. | β | 2010 | β |
| Association of common DNA sequence variants at 33 genetic loci with blood lipids in individuals of African ancestry from Jamaica. | Gupta R et al. | β | 2010 | β |
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| Associations of polymorphisms of eight muscle- or metabolism-related genes with performance in Mount Olympus marathon runners. | Tsianos GI et al. | β | 2010 | β |
| A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. | Kalsi G et al. | β | 2010 | β |
| CASP8 polymorphisms contribute to cancer susceptibility: evidence from a meta-analysis of 23 publications with 55 individual studies. | Yin M et al. | β | 2010 | β |
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| Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. | O'Seaghdha CM et al. | β | 2010 | β |
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| Cytokine gene polymorphisms and susceptibility to cachexia. | Tan BH et al. | β | 2010 | β |
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| Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese. | Ji Y et al. | β | 2010 | β |
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| Lack of association between MnSOD Val16Ala polymorphism and breast cancer risk: a meta-analysis involving 58,448 subjects. | Qiu LX et al. | β | 2010 | β |
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| MnSOD Val16Ala polymorphism and prostate cancer susceptibility: a meta-analysis involving 8,962 subjects. | Mao C et al. | β | 2010 | β |
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| Survival dimensionality reduction (SDR): development and clinical application of an innovative approach to detect epistasis in presence of right-censored data. | Beretta L et al. | β | 2010 | β |
| TGFB1 L10P polymorphism is associated with breast cancer susceptibility: evidence from a meta-analysis involving 47,817 subjects. | Qiu LX et al. | β | 2010 | β |
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| The CYP1B1 Leu432Val polymorphism contributes to lung cancer risk: evidence from 6501 subjects. | Chen B et al. | β | 2010 | β |
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| The p21 Ser31Arg polymorphism and breast cancer risk: a meta-analysis involving 51,236 subjects. | Qiu LX et al. | β | 2010 | β |
| The potential influence of genetic variants in genes along bile acid and bile metabolic pathway on blood cholesterol levels in the population. | Lu Y et al. | β | 2010 | β |
| The PstI/RsaI and DraI polymorphisms of CYP2E1 and head and neck cancer risk: a meta-analysis based on 21 case-control studies. | Tang K et al. | β | 2010 | β |
| Tumor necrosis factor-alpha-308A allele may have a protective effect for chronic hepatitis B virus infection in Mongoloid populations. | Zheng MH et al. | β | 2010 | β |
| Visualizing disease associations: graphic analysis of frequency distributions as a function of age using moving average plots (MAP) with application to Alzheimer's and Parkinson's disease. | Payami H et al. | β | 2010 | β |
| XPD Lys751Gln polymorphism and breast cancer susceptibility: a meta-analysis involving 28,709 subjects. | Qiu LX et al. | β | 2010 | β |
| A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. | Need AC et al. | β | 2009 | β |
| A meta-analysis of TP53 codon 72 polymorphism and lung cancer risk: evidence from 15,857 subjects. | Li Y et al. | β | 2009 | β |
| Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. | Chung WK et al. | β | 2009 | β |
| An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3. | Edwards TL et al. | β | 2009 | β |
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| Association mapping reveals gene action and interactions in the determination of flowering time in barley. | Stracke S et al. | β | 2009 | β |
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| Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry. | Grant SF et al. | β | 2009 | β |
| Association study between keratinocyte-derived growth factor gene polymorphisms and susceptibility to vitiligo vulgaris in a Taiwanese population: potential involvement of stem cell factor. | Lan CC et al. | β | 2009 | β |
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| Darwinian and demographic forces affecting human protein coding genes. | Nielsen R et al. | β | 2009 | β |
| Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD. | Bosch E et al. | β | 2009 | β |
| Discovering the genetics underlying foetal haemoglobin production in adults. | Thein SL et al. | β | 2009 | β |
| Epigenetics of endometriosis. | Guo SW | β | 2009 | β |
| Expanding the spectrum of NPHS1-associated disease. | Pollak MR | β | 2009 | β |
| Failure to replicate a genetic association may provide important clues about genetic architecture. | Greene CS et al. | β | 2009 | β |
| FAS promoter polymorphisms and cancer risk: a meta-analysis based on 34 case-control studies. | Zhang Z et al. | β | 2009 | β |
| Finding the missing heritability of complex diseases. | Manolio TA et al. | β | 2009 | β |
| [Gene polymorphisms and pharmacogenetics in Rheumatoid Arthritis]. | Rego-PΓ©rez I et al. | β | 2009 | β |
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| Genetic polymorphisms of EPHX1, Gsk3beta, TNFSF8 and myeloma cell DKK-1 expression linked to bone disease in myeloma. | Durie BG et al. | β | 2009 | β |
| Genetics and pathogenesis of multiple sclerosis. | Zuvich RL et al. | β | 2009 | β |
| Genetics and the general physician: insights, applications and future challenges. | Knight JC | β | 2009 | β |
| Genetic variants in surfactant, pulmonary-associated protein D (SFTPD) and Japanese susceptibility to ulcerative colitis. | Tanaka M et al. | β | 2009 | β |
| Genome-wide association study in humans. | Smith JG et al. | β | 2009 | β |
| Genome-wide association study of blood pressure and hypertension. | Levy D et al. | β | 2009 | β |
| Genomics of type 2 diabetes mellitus: implications for the clinician. | Stolerman ES et al. | β | 2009 | β |
| GWA studies: rewriting the story of IBD. | Budarf ML et al. | β | 2009 | β |
| Hsp70 and cardiac surgery: molecular chaperone and inflammatory regulator with compartmentalized effects. | de Jong PR et al. | β | 2009 | β |
| Identifying susceptibility genes of IgA nephropathy: research in progress. | Barua M et al. | β | 2009 | β |
| Interleukin-18 polymorphism and physical functioning in older people: a replication study and meta-analysis. | Thomas K et al. | β | 2009 | β |
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| MDM2 309 T/G polymorphism is associated with lung cancer risk among Asians. | Gui XH et al. | β | 2009 | β |
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| Metaanalysis of methylenetetrahydrofolate reductase (MTHFR) polymorphisms affecting methotrexate toxicity. | Fisher MC et al. | β | 2009 | β |
| Nutrigenetics and personalised nutrition: how far have we progressed and are we likely to get there? | Rimbach G et al. | β | 2009 | β |
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| Pharmacogenomic insights into treatment and management of statin-induced myopathy. | Peters BJ et al. | β | 2009 | β |
| Prediction of deleterious non-synonymous single nucleotide polymorphisms of genes related to ethanol-induced toxicity. | Wang LL et al. | β | 2009 | β |
| Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. | Chang MH et al. | β | 2009 | β |
| Probing cancer cachexia-anorexia: recent results with knockout, transgene and polymorphisms. | Dianliang Z | β | 2009 | β |
| Progress in genetic studies of pain and analgesia. | Lacroix-Fralish ML et al. | β | 2009 | β |
| Recent advances in the diagnosis, genetics and treatment of restless legs syndrome. | Trenkwalder C et al. | β | 2009 | β |
| Replication of genetic associations as pseudoreplication due to shared genealogy. | Rosenberg NA et al. | β | 2009 | β |
| Role for protein-protein interaction databases in human genetics. | Pattin KA et al. | β | 2009 | β |
| Semantic integration of cervical cancer data repositories to facilitate multicenter association studies: the ASSIST approach. | Agorastos T et al. | β | 2009 | β |
| Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology. | Burton PR et al. | β | 2009 | β |
| Social networking and personal genomics: suggestions for optimizing the interaction. | Greenbaum D et al. | β | 2009 | β |
| SOD3 R231G polymorphism associated with coronary artery disease and myocardial infarction. The Ludwigshafen Risk and Cardiovascular Health (LURIC) study. | Grammer TB et al. | β | 2009 | β |
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| The DNA repair gene APE1 T1349G polymorphism and cancer risk: a meta-analysis of 27 case-control studies. | Gu D et al. | β | 2009 | β |
| The E-cadherin (CDH1)--160 C/A polymorphism and prostate cancer risk: a meta-analysis. | Qiu LX et al. | β | 2009 | β |
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| The genetics of acute lung injury: looking back and pointing the way forward. | Bajwa EK | β | 2009 | β |
| The HapMap and genome-wide association studies in diagnosis and therapy. | Manolio TA et al. | β | 2009 | β |
| The medical and economic roles of pipeline pharmacogenetics: Alzheimer's disease as a model of efficacy and HLA-B(*)5701 as a model of safety. | Roses AD | β | 2009 | β |
| The multidrug resistance 1 (MDR1) gene polymorphism G-rs3789243-A is not associated with disease susceptibility in Norwegian patients with colorectal adenoma and colorectal cancer; a case control study. | Andersen V et al. | β | 2009 | β |
| The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects. | Choquet H et al. | β | 2009 | β |
| Translating genomics into the clinic: moving to the post-Mendelian world. | Cho MK | β | 2009 | β |
| Variation in the TLR4 gene influences the risk of organ failure and shock posttrauma: a cohort study. | Shalhub S et al. | β | 2009 | β |
| Vitamin D receptor polymorphisms are associated with increased susceptibility to primary biliary cirrhosis in Japanese and Italian populations. | Tanaka A et al. | β | 2009 | β |
| A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk. | Crawford DC et al. | β | 2008 | β |
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| Adaptations to climate in candidate genes for common metabolic disorders. | Hancock AM et al. | β | 2008 | β |
| Admixture and population stratification in African Caribbean populations. | Benn-Torres J et al. | β | 2008 | β |
| A functional polymorphism in the tyrosine hydroxylase gene indicates a role of noradrenalinergic signaling in sudden infant death syndrome. | Klintschar M et al. | β | 2008 | β |
| A kinesin family member 6 variant is associated with coronary heart disease in the Women's Health Study. | Shiffman D et al. | β | 2008 | β |
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| No evidence of association of ENPP1 variants with type 2 diabetes or obesity in a study of 8,089 U.K. Caucasians. | Weedon MN et al. | β | 2006 | β |
| [Nutrigenomics. Scientific basis, status and perspectives of application]. | Joost HG | β | 2006 | β |
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| Patterns of genetic variation in the hypertension candidate gene GRK4: ethnic variation and haplotype structure. | Lohmueller KE et al. | β | 2006 | β |
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| Physiologic genomics. | McDunn JE et al. | β | 2006 | β |
| Policy implications of genetic information on regulation under the Clean Air Act: the case of particulate matter and asthmatics. | Kramer CB et al. | β | 2006 | β |
| Predicting the effects of amino acid substitutions on protein function. | Ng PC et al. | β | 2006 | β |
| Reporting genetic results in research studies: summary and recommendations of an NHLBI working group. | Bookman EB et al. | β | 2006 | β |
| "Return to sender, address unknown...." Are variant addressins involved in PSC? | Elferink RO | β | 2006 | β |
| Schizophrenia susceptibility genes converge on interlinked pathways related to glutamatergic transmission and long-term potentiation, oxidative stress and oligodendrocyte viability. | Carter CJ | β | 2006 | β |
| Systematic replication study of reported genetic associations in prostate cancer: Strong support for genetic variation in the androgen pathway. | LindstrΓΆm S et al. | β | 2006 | β |
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| The -169C/T polymorphism in FCRL3 is not associated with susceptibility to rheumatoid arthritis or systemic lupus erythematosus in a case-control study of Koreans. | Choi CB et al. | β | 2006 | β |
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| Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations. | Hersh CP et al. | β | 2005 | β |
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| Early extreme contradictory estimates may appear in published research: the Proteus phenomenon in molecular genetics research and randomized trials. | Ioannidis JP et al. | β | 2005 | β |
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| Evaluation of offspring and maternal genetic effects on disease risk using a family-based approach: the "pent" design. | Mitchell LE et al. | β | 2005 | β |
| Finding genetic modifiers of cystic fibrosis. | Haston CK et al. | β | 2005 | β |
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| Genetics of common forms of obesity: a brief overview. | Lyon HN et al. | β | 2005 | β |
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| Pharmacogenetics of response to statins: where do we stand? | Maitland-van der Zee AH et al. | β | 2005 | β |
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| The APOC3 SstI polymorphism is weakly associated with sporadic Alzheimer's disease in a Chinese population. | Sun Y et al. | β | 2005 | β |
| The bovine PPARGC1A gene: molecular characterization and association of an SNP with variation of milk fat synthesis. | Weikard R et al. | β | 2005 | β |
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