Patterns of cis regulatory variation in diverse human populations.
paper
Cited
Public
- Authors
- Stranger, Barbara E; Montgomery, Stephen B; Dimas, Antigone S; Parts, Leopold; Stegle, Oliver; Ingle, Catherine E; Sekowska, Magda; Smith, George Davey; Evans, David; Gutierrez-Arcelus, Maria; Price, Alkes; Raj, Towfique; Nisbett, James; Nica, Alexandra C; Beazley, Claude; Durbin, Richard; Deloukas, Panos; Dermitzakis, Emmanouil T
- Year
- 2012
- Journal
- PLoS genetics
- PMID
- 22532805
- DOI
- 10.1371/journal.pgen.1002639
- PMCID
- PMC3330104
The genetic basis of gene expression variation has long been studied with the aim to understand the landscape of regulatory variants, but also more recently to assist in the interpretation and elucidation of disease signals. To date, many studies have looked in specific tissues and population-based samples, but there has been limited assessment of the degree of inter-population variability in regulatory variation. We analyzed genome-wide gene expression in lymphoblastoid cell lines from a total of 726 individuals from 8 global populations from the HapMap3 project and correlated gene expression levels with HapMap3 SNPs located in cis to the genes. We describe the influence of ancestry on gene expression levels within and between these diverse human populations and uncover a non-negligible impact on global patterns of gene expression. We further dissect the specific functional pathways differentiated between populations. We also identify 5,691 expression quantitative trait loci (eQTLs) after controlling for both non-genetic factors and population admixture and observe that half of the cis-eQTLs are replicated in one or more of the populations. We highlight patterns of eQTL-sharing between populations, which are partially determined by population genetic relatedness, and discover significant sharing of eQTL effects between Asians, European-admixed, and African subpopulations. Specifically, we observe that both the effect size and the direction of effect for eQTLs are highly conserved across populations. We observe an increasing proximity of eQTLs toward the transcription start site as sharing of eQTLs among populations increases, highlighting that variants close to TSS have stronger effects and therefore are more likely to be detected across a wider panel of populations. Together these results offer a unique picture and resource of the degree of differentiation among human populations in functional regulatory variation and provide an estimate for the transferability of complex trait variants across populations.
Spearman's rho for each significant SNP-probe cis- association shared by at least two populations.Shown are plots of rho for significant associations (permutation threshold 0.01) for each pairwise combination of populations. Within a panel, dots shown in upper left and lower right quadrants indicate significant SNP-probe associations where the allelic direction of the association is in opposite directions in the two populations being compared.
Expression level fold-change for significant SNP-probe cis- associations shared by pairs of populations.Shown are plots of the absolute value of expression level fold-change between median expression levels of homozygote classes for significant associations (permutation threshold 0.01) for each pairwise combination of populations. Within a panel, deviating from the 1 to 1 line (lower left to upper right) indicates differences in expression level fold-change (effect size) on log2 scale in the two populations being compared.
Distribution of cis- associations in each population relative to the transcription start site (TSS).βlog10 of the p-value is plotted against distance measured in base pairs from the associated SNP to the TSS. Each dot represents the most significant SNP for a significant gene (permutation threshold 0.01) in a population. Each panel represents a different population.
Distribution of cis- associations relative to the transcription start site (TSS) and in relation to population sharing.βlog10 of the p-value is plotted against distance measured in base pairs from the associated SNP to the TSS. Each dot represents the most significant SNP for a significant gene (permutation threshold 0.01) in a population. Panels separate associations that were significant in one population, two populations, etc. All populations are lumped together.
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| Cis-Expression Quantitative Trait Loci Mapping Reveals Replicable Associations with Heroin Addiction in OPRM1. | Hancock DB et al. | β | 2015 | β |
| Common Variants at Putative Regulatory Sites of the Tissue Nonspecific Alkaline Phosphatase Gene Influence Circulating Pyridoxal 5'-Phosphate Concentration in Healthy Adults. | Carter TC et al. | β | 2015 | β |
| Common variants of IRF3 conferring risk of schizophrenia. | Li X et al. | β | 2015 | β |
| Comprehensively evaluating cis-regulatory variation in the human prostate transcriptome by using gene-level allele-specific expression. | Larson NB et al. | β | 2015 | β |
| Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci. | Hulur I et al. | β | 2015 | β |
| eQTL mapping identifies insertion- and deletion-specific eQTLs in multiple tissues. | Huang J et al. | β | 2015 | β |
| eQTL of bronchial epithelial cells and bronchial alveolar lavage deciphers GWAS-identified asthma genes. | Li X et al. | β | 2015 | β |
| Ethnic variation of TET2 SNP rs2454206 and association with clinical outcome in childhood AML: a report from the Children's Oncology Group. | Kutny MA et al. | β | 2015 | β |
| Evaluating intra- and inter-individual variation in the human placental transcriptome. | Hughes DA et al. | β | 2015 | β |
| Expression-associated polymorphisms of CAV1-CAV2 affect intraocular pressure and high-tension glaucoma risk. | Kim S et al. | β | 2015 | β |
| Expression quantitative trait loci (eQTL) mapping in Puerto Rican children. | Chen W et al. | β | 2015 | β |
| Expression quantitative trait loci (eQTLs) in microRNA genes are enriched for schizophrenia and bipolar disorder association signals. | Williamson VS et al. | β | 2015 | β |
| Expression quantitative trait locus analysis for translational medicine. | Gibson G et al. | β | 2015 | β |
| Functional genomics bridges the gap between quantitative genetics and molecular biology. | Lappalainen T | β | 2015 | β |
| Functional variants regulating LGALS1 (Galectin 1) expression affect human susceptibility to influenza A(H7N9). | Chen Y et al. | β | 2015 | β |
| Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins. | Buil A et al. | β | 2015 | β |
| Genetic variants in matrix metalloproteinase genes as disposition factors for ovarian cancer risk, survival, and clinical outcome. | Wang Y et al. | β | 2015 | β |
| GenoExp: a web tool for predicting gene expression levels from single nucleotide polymorphisms. | Manor O et al. | β | 2015 | β |
| Genome-wide analysis of attention deficit hyperactivity disorder in Norway. | Zayats T et al. | β | 2015 | β |
| Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. | Juyal G et al. | β | 2015 | β |
| Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. | Lu X et al. | β | 2015 | β |
| Genomic modulators of gene expression in human neutrophils. | Naranbhai V et al. | β | 2015 | β |
| GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy. | Jang HW et al. | β | 2015 | β |
| High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. | Kim K et al. | β | 2015 | β |
| High-Throughput Identification of Cis-Regulatory Rewiring Events in Yeast. | Sarda S et al. | β | 2015 | β |
| Human Enhancers Are Fragile and Prone to Deactivating Mutations. | Li S et al. | β | 2015 | β |
| Human primary biliary cirrhosis-susceptible allele of rs4979462 enhances TNFSF15 expression by binding NF-1. | Hitomi Y et al. | β | 2015 | β |
| IFN-Ξ± production by plasmacytoid dendritic cell associations with polymorphisms in gene loci related to autoimmune and inflammatory diseases. | Berggren O et al. | β | 2015 | β |
| Influence of Genetic Variants in EGF and Other Genes on Hematological Traits in Korean Populations by a Genome-Wide Approach. | Kim YK et al. | β | 2015 | β |
| Meta-analysis of two Chinese populations identifies an autoimmune disease risk allele in 22q11.21 as associated with systemic lupus erythematosus. | Zhang Y et al. | β | 2015 | β |
| Novel genetic locus implicated for HIV-1 acquisition with putative regulatory links to HIV replication and infectivity: a genome-wide association study. | Johnson EO et al. | β | 2015 | β |
| PExFInS: An Integrative Post-GWAS Explorer for Functional Indels and SNPs. | Cheng Z et al. | β | 2015 | β |
| Preliminary Transcriptome Analysis in Lymphoblasts from Cluster Headache and Bipolar Disorder Patients Implicates Dysregulation of Circadian and Serotonergic Genes. | Costa M et al. | β | 2015 | β |
| PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6. | Oparina NY et al. | β | 2015 | β |
| RAB2A Polymorphism impacts prefrontal morphology, functional connectivity, and working memory. | Li J et al. | β | 2015 | β |
| Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer. | Timofeeva MN et al. | β | 2015 | β |
| Regularization Methods for High-Dimensional Instrumental Variables Regression With an Application to Genetical Genomics. | Lin W et al. | β | 2015 | β |
| RNA Sequencing and Analysis. | Kukurba KR et al. | β | 2015 | β |
| Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty. | Cousminer DL et al. | β | 2015 | β |
| The potential of the riboSNitch inΒ personalized medicine. | Solem AC et al. | β | 2015 | β |
| Why the activity of a gene depends on its neighbors. | Feuerborn A et al. | β | 2015 | β |
| Aberrant methylation of the MSH3 promoter and distal enhancer in esophageal cancer patients exposed to first-hand tobacco smoke. | Vogelsang M et al. | β | 2014 | β |
| A cellular genome-wide association study reveals human variation in microtubule stability and a role in inflammatory cell death. | Salinas RE et al. | β | 2014 | β |
| ADAM19 and HTR4 variants and pulmonary function: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. | London SJ et al. | β | 2014 | β |
| A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. | Kuiper JJ et al. | β | 2014 | β |
| A genome-wide association study of serum levels of prostate-specific antigen in the Japanese population. | Terao C et al. | β | 2014 | β |
| A genome-wide survey of CD4(+) lymphocyte regulatory genetic variants identifies novel asthma genes. | Sharma S et al. | β | 2014 | β |
| Allele-specific expression and eQTL analysis in mouse adipose tissue. | Hasin-Brumshtein Y et al. | β | 2014 | β |
| Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations. | Kim-Howard X et al. | β | 2014 | β |
| A meta-analysis of gene expression quantitative trait loci in brain. | Kim Y et al. | β | 2014 | β |
| Applying genome-wide gene-based expression quantitative trait locus mapping to study population ancestry and pharmacogenetics. | Yang HC et al. | β | 2014 | β |
| Approaches for establishing the function of regulatory genetic variants involved in disease. | Knight JC | β | 2014 | β |
| Associating disease-related genetic variants in intergenic regions to the genes they impact. | Macintyre G et al. | β | 2014 | β |
| A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1. | Fachal L et al. | β | 2014 | β |
| A two-stage association study suggests BRAP as a susceptibility gene for schizophrenia. | Zhang F et al. | β | 2014 | β |
| A type I interferon transcriptional signature precedes autoimmunity in children genetically at risk for type 1 diabetes. | Ferreira RC et al. | β | 2014 | β |
| CardioGxE, a catalog of gene-environment interactions for cardiometabolic traits. | Parnell LD et al. | β | 2014 | β |
| Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals. | Battle A et al. | β | 2014 | β |
| Chromosome 16q22 variants in a region associated with cardiovascular phenotypes correlate with ZFHX3 expression in a transcript-specific manner. | Martin RI et al. | β | 2014 | β |
| Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation. | Tsaprouni LG et al. | β | 2014 | β |
| Coeliac disease-associated polymorphisms influence thymic gene expression. | Amundsen SS et al. | β | 2014 | β |
| Convergent lines of evidence support CAMKK2 as a schizophrenia susceptibility gene. | Luo XJ et al. | β | 2014 | β |
| De novo prediction of cis-regulatory elements and modules through integrative analysis of a large number of ChIP datasets. | Niu M et al. | β | 2014 | β |
| Determinants of expression variability. | Alemu EY et al. | β | 2014 | β |
| Determining causality and consequence of expression quantitative trait loci. | Battle A et al. | β | 2014 | β |
| Dissecting the causal genetic mechanisms of coronary heart disease. | Miller CL et al. | β | 2014 | β |
| Expression profiles of long non-coding RNAs located in autoimmune disease-associated regions reveal immune cell-type specificity. | Hrdlickova B et al. | β | 2014 | β |
| Expression quantitative trait analyses to identify causal genetic variants for type 2 diabetes susceptibility. | Das SK et al. | β | 2014 | β |
| Finding alternative expression quantitative trait loci by exploring sparse model space. | Wang Z et al. | β | 2014 | β |
| From genome to function by studying eQTLs. | Westra HJ et al. | β | 2014 | β |
| Gene age predicts the strength of purifying selection acting on gene expression variation in humans. | Popadin KY et al. | β | 2014 | β |
| Genetic association signal near NTN4 in Tourette syndrome. | Paschou P et al. | β | 2014 | β |
| Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions. | Evans DS et al. | β | 2014 | β |
| Genetics of gene expression in immunity to infection. | Fairfax BP et al. | β | 2014 | β |
| Genetic studies of Crohn's disease: past, present and future. | Liu JZ et al. | β | 2014 | β |
| Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans. | Daneshjou R et al. | β | 2014 | β |
| Genetic variants in the fibroblast growth factor pathway as potential markers of ovarian cancer risk, therapeutic response, and clinical outcome. | Meng QH et al. | β | 2014 | β |
| Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3. | Hou S et al. | β | 2014 | β |
| Genomewide association study identifies HAS2 as a novel susceptibility gene for adult asthma in a Japanese population. | Yatagai Y et al. | β | 2014 | β |
| Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations. | Yang SK et al. | β | 2014 | β |
| Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations. | Sano M et al. | β | 2014 | β |
| Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty. | Cousminer DL et al. | β | 2014 | β |
| Heritability and genetic basis of protein level variation in an outbred population. | Parts L et al. | β | 2014 | β |
| Heritability and genomics of gene expression in peripheral blood. | Wright FA et al. | β | 2014 | β |
| Host genetic variants and gene expression patterns associated with Epstein-Barr virus copy number in lymphoblastoid cell lines. | Houldcroft CJ et al. | β | 2014 | β |
| Influence of MILR1 promoter polymorphism on expression levels and the phenotype of atopy. | Nanatsue K et al. | β | 2014 | β |
| Integrative genomics and transcriptomics analysis of human embryonic and induced pluripotent stem cells. | Laurila K et al. | β | 2014 | β |
| Interrogation of allelic chromatin states in human cells by high-density ChIP-genotyping. | Light N et al. | β | 2014 | β |
| Intersection of population variation and autoimmunity genetics in human T cell activation. | Ye CJ et al. | β | 2014 | β |
| Mediation analysis demonstrates that trans-eQTLs are often explained by cis-mediation: a genome-wide analysis among 1,800 South Asians. | Pierce BL et al. | β | 2014 | β |
| Methylation quantitative trait loci (meQTLs) are consistently detected across ancestry, developmental stage, and tissue type. | Smith AK et al. | β | 2014 | β |
| Nonsense-mediated mRNA decay: inter-individual variability and human disease. | Nguyen LS et al. | β | 2014 | β |
| Polarization of the effects of autoimmune and neurodegenerative risk alleles in leukocytes. | Raj T et al. | β | 2014 | β |
| Potential non-B DNA regions in the human genome are associated with higher rates of nucleotide mutation and expression variation. | Du X et al. | β | 2014 | β |
| Predicting DNA methylation level across human tissues. | Ma B et al. | β | 2014 | β |
| Protein quantitative trait loci identify novel candidates modulating cellular response to chemotherapy. | Stark AL et al. | β | 2014 | β |
| Quantitative genetics of CTCF binding reveal local sequence effects and different modes of X-chromosome association. | Ding Z et al. | β | 2014 | β |
| Regulation of gene expression in autoimmune disease loci and the genetic basis of proliferation in CD4+ effector memory T cells. | Hu X et al. | β | 2014 | β |
| Ribosomal DNA copy number is coupled with gene expression variation and mitochondrial abundance in humans. | Gibbons JG et al. | β | 2014 | β |
| RTeQTL: Real-Time Online Engine for Expression Quantitative Trait Loci Analyses. | Ma B et al. | β | 2014 | β |
| SCN1A variations and response to multiple antiepileptic drugs. | Yip TS et al. | β | 2014 | β |
| The KMO allele encoding Arg452 is associated with psychotic features in bipolar disorder type 1, and with increased CSF KYNA level and reduced KMO expression. | Lavebratt C et al. | β | 2014 | β |
| The marriage of quantitative genetics and cell biology: a novel screening approach reveals people have genetically encoded variation in microtubule stability. | Ko DC et al. | β | 2014 | β |
| Transcriptome sequencing from diverse human populations reveals differentiated regulatory architecture. | Martin AR et al. | β | 2014 | β |
| Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk. | Walsh KM et al. | β | 2014 | β |
| Variation and genetic control of gene expression in primary immunocytes across inbred mouse strains. | Mostafavi S et al. | β | 2014 | β |
| VSEAMS: a pipeline for variant set enrichment analysis using summary GWAS data identifies IKZF3, BATF and ESRRA as key transcription factors in type 1 diabetes. | Burren OS et al. | β | 2014 | β |
| Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31. | Villanueva A et al. | β | 2014 | β |
| Wnt signaling pathway pharmacogenetics in non-small cell lung cancer. | Stewart DJ et al. | β | 2014 | β |
| A common functional promoter variant links CNR1 gene expression to HDL cholesterol level. | Feng Q et al. | β | 2013 | β |
| A genome-wide association study in Han Chinese identifies a susceptibility locus for primary SjΓΆgren's syndrome at 7q11.23. | Li Y et al. | β | 2013 | β |
| A genome-wide association study of chronic otitis media with effusion and recurrent otitis media identifies a novel susceptibility locus on chromosome 2. | Allen EK et al. | β | 2013 | β |
| Anorectal atresia and variants at predicted regulatory sites in candidate genes. | Carter TC et al. | β | 2013 | β |
| Association of Parkinson disease with structural and regulatory variants in the HLA region. | Wissemann WT et al. | β | 2013 | β |
| Balancing selection on a regulatory region exhibiting ancient variation that predates human-neandertal divergence. | Gokcumen O et al. | β | 2013 | β |
| Beyond GWASs: illuminating the dark road from association to function. | Edwards SL et al. | β | 2013 | β |
| Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes. | Sandholm N et al. | β | 2013 | β |
| Common genetic variants in ARNTL and NPAS2 and at chromosome 12p13 are associated with objectively measured sleep traits in the elderly. | Evans DS et al. | β | 2013 | β |
| Common risk alleles for inflammatory diseases are targets of recent positive selection. | Raj T et al. | β | 2013 | β |
| Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer. | Henrion M et al. | β | 2013 | β |
| Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. | Chubb D et al. | β | 2013 | β |
| Decoding asthma: translating genetic variation in IL33 and IL1RL1 into disease pathophysiology. | Grotenboer NS et al. | β | 2013 | β |
| Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis. | Hinks A et al. | β | 2013 | β |
| Detecting regulatory gene-environment interactions with unmeasured environmental factors. | Fusi N et al. | β | 2013 | β |
| Effect of catechol-o-methyltransferase-gene (COMT) variants on experimental and acute postoperative pain in 1,000 women undergoing surgery for breast cancer. | Kambur O et al. | β | 2013 | β |
| Efficiently identifying significant associations in genome-wide association studies. | Kostem E et al. | β | 2013 | β |
| Expression quantitative trait loci: present and future. | Nica AC et al. | β | 2013 | β |
| FCGR2B and FCRLB gene polymorphisms associated with IgA nephropathy. | Zhou XJ et al. | β | 2013 | β |
| Gene expression drives local adaptation in humans. | Fraser HB | β | 2013 | β |
| Genetic and nongenetic variation revealed for the principal components of human gene expression. | Goldinger A et al. | β | 2013 | β |
| Genetic predictors of risk and resilience in psychiatric disorders: a cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia. | McGrath LM et al. | β | 2013 | β |
| Genetics of human gene expression. | Stranger BE et al. | β | 2013 | β |
| Genome-wide association analysis identifies 13 new risk loci for schizophrenia. | Ripke S et al. | β | 2013 | β |
| Genome-wide association studies in asthma: what they really told us about pathogenesis. | Wjst M et al. | β | 2013 | β |
| Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. | Wheeler E et al. | β | 2013 | β |
| Geographical, environmental and pathophysiological influences on the human blood transcriptome. | Tabassum R et al. | β | 2013 | β |
| Global properties and functional complexity of human gene regulatory variation. | Gaffney DJ | β | 2013 | β |
| How genome-wide SNP-SNP interactions relate to nasopharyngeal carcinoma susceptibility. | Su WH et al. | β | 2013 | β |
| Integrative analysis of mRNA expression and half-life data reveals trans-acting genetic variants associated with increased expression of stable transcripts. | Nguyen TT et al. | β | 2013 | β |
| Integrative modeling of eQTLs and cis-regulatory elements suggests mechanisms underlying cell type specificity of eQTLs. | Brown CD et al. | β | 2013 | β |
| Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | Michailidou K et al. | β | 2013 | β |
| Meta-analysis supports association of a functional SNP (rs1801133) in the MTHFR gene with Parkinson's disease. | Zhu ZG et al. | β | 2013 | β |
| MicroRNA-3148 modulates allelic expression of toll-like receptor 7 variant associated with systemic lupus erythematosus. | Deng Y et al. | β | 2013 | β |
| Normalizing RNA-sequencing data by modeling hidden covariates with prior knowledge. | Mostafavi S et al. | β | 2013 | β |
| Possible associations of NTRK2 polymorphisms with antidepressant treatment outcome: findings from an extended tag SNP approach. | Hennings JM et al. | β | 2013 | β |
| Preferential binding to Elk-1 by SLE-associated IL10 risk allele upregulates IL10 expression. | Sakurai D et al. | β | 2013 | β |
| Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies. | Ramasamy A et al. | β | 2013 | β |
| Robust prediction of expression differences among human individuals using only genotype information. | Manor O et al. | β | 2013 | β |
| rs2072135, a low-penetrance variant for chronic lymphocytic leukaemia? | Sava GP et al. | β | 2013 | β |
| The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. | Weinhold N et al. | β | 2013 | β |
| The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. | Sailani MR et al. | β | 2013 | β |
| Using eQTL weights to improve power for genome-wide association studies: a genetic study of childhood asthma. | Li L et al. | β | 2013 | β |
| Variants in the 17q21 asthma susceptibility locus are associated with allergic rhinitis in the Japanese population. | Tomita K et al. | β | 2013 | β |
| Variation and genetic control of protein abundance in humans. | Wu L et al. | β | 2013 | β |
| Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. | Migliorini G et al. | β | 2013 | β |
| Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. | Frampton M et al. | β | 2013 | β |
| A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. | Siddiq A et al. | β | 2012 | β |
| Bayesian refinement of association signals for 14 loci in 3 common diseases. | Wellcome Trust Case Control Consortium et al. | β | 2012 | β |
| Calling sample mix-ups in cancer population studies. | Lynch AG et al. | β | 2012 | β |
| Coordinating GWAS results with gene expression in a systems immunologic paradigm in autoimmunity. | Stranger BE et al. | β | 2012 | β |
| Exploiting gene expression variation to capture gene-environment interactions for disease. | Idaghdour Y et al. | β | 2012 | β |
| Genetic and environmental factors influencing the Placental Growth Factor (PGF) variation in two populations. | Sorice R et al. | β | 2012 | β |
| Integrative genomics: quantifying significance of phenotype-genotype relationships from multiple sources of high-throughput data. | Gamazon ER et al. | β | 2012 | β |
| Meta-analysis and brain imaging data support the involvement of VRK2 (rs2312147) in schizophrenia susceptibility. | Li M et al. | β | 2012 | β |
| Sex-biased genetic effects on gene regulation in humans. | Dimas AS et al. | β | 2012 | β |
| Rare and common regulatory variation in population-scale sequenced human genomes. | Montgomery SB et al. | β | 2011 | β |
| Single-tissue and cross-tissue heritability of gene expression via identity-by-descent in related or unrelated individuals. | Price AL et al. | β | 2011 | β |