Meta-analysis of genome-wide association studies with overlapping subjects.
- Authors
- Lin, Dan-Yu; Sullivan, Patrick F
- Year
- 2009
- Journal
- American journal of human genetics
- PMID
- 20004761
- DOI
- 10.1016/j.ajhg.2009.11.001
- PMCID
- PMC2790578
Data from multiple genome-wide association studies are often analyzed together for the purposes of combining information from several studies of the same disease or comparing results across different disorders. We provide a valid and efficient approach to such meta-analysis, allowing for overlapping study subjects. The available data may contain individual participant records or only meta-analytic summary results. Simulation studies demonstrate that failure to account for overlapping subjects can greatly inflate type I error when combining results from multiple studies of the same disease and can drastically reduce power when comparing results across different disorders. In addition, the proposed approach can be substantially more powerful than the simple approach of splitting the overlapping subjects among studies, especially for comparing results across different disorders. The advantages of the new approach are illustrated with empirical data from two sets of genome-wide association studies.
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| A robust pleiotropy method with applications to lipid traits and to inflammatory bowel disease subtypes with sample overlap. | Park J et al. | β | 2026 | β |
| Genetic Variants Related to TGF-Ξ² Signaling Pathway Modulate Risk of Meniscus Injury: A Multiancestry Genome-wide Association Study. | Umesh A et al. | β | 2026 | β |
| Genome-wide meta-analyses of non-response to antidepressants provide insights into underlying molecular genetics and suggest potential pharmacotherapies. | Koch E et al. | β | 2026 | β |
| Gut micro-organisms associated with health, nutrition and dietary interventions. | Asnicar F et al. | β | 2026 | β |
| Investigating the Causal Effect of Potential Therapeutic Agents for Colorectal Cancer Prevention: A Mendelian Randomization Analysis. | Fryer E et al. | β | 2026 | β |
| Alzheimer's disease transcriptional landscape in ex vivo human microglia. | Kosoy R et al. | β | 2025 | β |
| Contributions of common and rare genetic variation to different measures of mood and anxiety disorder in the UK Biobank. | Katzourou IK et al. | β | 2025 | β |
| Divide and conquer approach for genome-wide association studies. | Γzkaraca MΔ° et al. | β | 2025 | β |
| Genome-wide pleiotropy analysis of longitudinal blood pressure and harmonized cognitive performance measures. | Kang M et al. | β | 2025 | β |
| Integration of Left Atrial Function Assessment, Genetic Risk, and Clinical Risk Factors Improves Prediction of Incident Atrial Fibrillation. | Park H et al. | β | 2025 | β |
| metaGE: Investigating genotype x environment interactions through GWAS meta-analysis. | De Walsche A et al. | β | 2025 | β |
| Proteomic Signatures for Risk Prediction of Atrial Fibrillation. | Park H et al. | β | 2025 | β |
| The Epidemiologic Comparison of Two Correlated Relative Risks: A Simple but Efficient Clinical Trial Design for Assessing Risk-Reduction and Treatment Significance. | Efird JT et al. | β | 2025 | β |
| Type 2 Diabetes Polygenic Risk Score Interactions with Lifestyle Risk Factors in Black Americans. | Scadden AW et al. | β | 2025 | β |
| Better together against genetic heterogeneity: A sex-combined joint main and interaction analysis of 290 quantitative traits in the UK Biobank. | Lin B et al. | β | 2024 | β |
| Case-Case Genome-Wide Analyses Identify Subtype-Informative Variants That Confer Risk for Breast Cancer. | Sun X et al. | β | 2024 | β |
| Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia. | Manzoni C et al. | β | 2024 | β |
| PASTRY: achieving balanced power for detecting risk and protective minor alleles in meta-analysis of association studies with overlapping subjects. | Kim EE et al. | β | 2024 | β |
| shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores. | Kelemen M et al. | β | 2024 | β |
| Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes. | Kojima K et al. | β | 2024 | β |
| Accurate detection of shared genetic architecture from GWAS summary statistics in the small-sample context. | Willis TW et al. | β | 2023 | β |
| A genome-wide search for pleiotropy in more than 100,000 harmonized longitudinal cognitive domain scores. | Kang M et al. | β | 2023 | β |
| A statistical method for removing unbalanced trials with multiple covariates in meta-analysis. | Attanasio M et al. | β | 2023 | β |
| Borderline Dysplastic Hips Undergoing Hip Arthroscopy Achieve Equivalent Patient Reported Outcomes When Compared With Hips With Normal Acetabular Coverage: A Systematic Review and Meta-Analysis. | Krivicich LM et al. | β | 2023 | β |
| Genetic overlap for ten cardiovascular diseases: A comprehensive gene-centric pleiotropic association analysis and Mendelian randomization study. | Liu Z et al. | β | 2023 | β |
| Novel joint enrichment test demonstrates high performance in simulations and identifies cell-types with enriched expression of inflammatory bowel disease risk loci | Voda A et al. | β | 2023 | β |
| Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis. | Sato G et al. | β | 2023 | β |
| Similarity and diversity of genetic architecture for complex traits between East Asian and European populations. | Zhang J et al. | β | 2023 | β |
| A flexible summary statistics-based colocalization method with application to the mucin cystic fibrosis lung disease modifier locus. | Wang F et al. | β | 2022 | β |
| A whole genome sequencing study of moderate to severe asthma identifies a lung function locus associated with asthma risk. | Chang D et al. | β | 2022 | β |
| Bayesian analysis of longitudinal traits in the Korea Association Resource (KARE) cohort. | Chung W et al. | β | 2022 | β |
| Detecting associated genes for complex traits shared across East Asian and European populations under the framework of composite null hypothesis testing. | Qiao J et al. | β | 2022 | β |
| Effects of state opioid prescribing cap laws on opioid prescribing after surgery. | Schmid I et al. | β | 2022 | β |
| GhostKnockoff inference empowers identification of putative causal variants in genome-wide association studies. | He Z et al. | β | 2022 | β |
| Identifying pleiotropic genes for complex phenotypes with summary statistics from a perspective of composite null hypothesis testing. | Wang T et al. | β | 2022 | β |
| Meta-analysis under imbalance in measurement of confounders in cohort studies using only summary-level data. | Ray D et al. | β | 2022 | β |
| Multi-trait and cross-population genome-wide association studies across autoimmune and allergic diseases identify shared and distinct genetic component. | Shirai Y et al. | β | 2022 | β |
| Reconstructing SNP allele and genotype frequencies from GWAS summary statistics. | Yang Z et al. | β | 2022 | β |
| The identification of gifted underachievement: Validity evidence for the commonly used methods. | Jackson RL et al. | β | 2022 | β |
| The impact of violating the independence assumption in meta-analysis on biomarker discovery. | Abbas-Aghababazadeh F et al. | β | 2022 | β |
| TwinEQTL: ultrafast and powerful association analysis for eQTL and GWAS in twin studies. | Xia K et al. | β | 2022 | β |
| A comprehensive gene-centric pleiotropic association analysis for 14 psychiatric disorders with GWAS summary statistics. | Lu H et al. | β | 2021 | β |
| Combining schizophrenia and depression polygenic risk scores improves the genetic prediction of lithium response in bipolar disorder patients. | Schubert KO et al. | β | 2021 | β |
| Cross-Disorder Genomics Data Analysis Elucidates a Shared Genetic Basis Between Major Depression and Osteoarthritis Pain. | Barowsky S et al. | β | 2021 | β |
| Identifying loci with different allele frequencies among cases of eight psychiatric disorders using CC-GWAS. | Peyrot WJ et al. | β | 2021 | β |
| Meta-analysis of SNP-environment interaction with heterogeneity for overlapping data. | Jin Q et al. | β | 2021 | β |
| Pathway analysis for genome-wide genetic variation data: Analytic principles, latest developments, and new opportunities. | Silberstein M et al. | β | 2021 | β |
| Performing post-genome-wide association study analysis: overview, challenges and recommendations. | Adam Y et al. | β | 2021 | β |
| PLEIO: a method to map and interpret pleiotropic loci with GWAS summary statistics. | Lee CH et al. | β | 2021 | β |
| The shared genetic architecture of schizophrenia, bipolar disorder and lifespan. | MuntanΓ© G et al. | β | 2021 | β |
| A genotype imputation method for de-identified haplotype reference information by using recurrent neural network. | Kojima K et al. | β | 2020 | β |
| A powerful method for pleiotropic analysis under composite null hypothesis identifies novel shared loci between Type 2 Diabetes and Prostate Cancer. | Ray D et al. | β | 2020 | β |
| Discovery of shared genomic loci using the conditional false discovery rate approach. | Smeland OB et al. | β | 2020 | β |
| Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. | Zhang H et al. | β | 2020 | β |
| Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma. | Sarin KY et al. | β | 2020 | β |
| Interpretation of risk loci from genome-wide association studies of Alzheimer's disease. | Andrews SJ et al. | β | 2020 | β |
| Leveraging existing GWAS summary data of genetically correlated and uncorrelated traits to improve power for a new GWAS. | Xue H et al. | β | 2020 | β |
| Multi-trait analysis of rare-variant association summary statistics using MTAR. | Luo L et al. | β | 2020 | β |
| Truncated tests for combining evidence of summary statistics. | Bu D et al. | β | 2020 | β |
| Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances. | Timmers PR et al. | β | 2019 | β |
| Meta-Analysis of SNP-Environment Interaction With Overlapping Data. | Jin Q et al. | β | 2019 | β |
| A correction for sample overlap in genome-wide association studies in a polygenic pleiotropy-informed framework. | LeBlanc M et al. | β | 2018 | β |
| An efficient Bayesian meta-analysis approach for studying cross-phenotype genetic associations. | Majumdar A et al. | β | 2018 | β |
| Cerebrovascular Disease Knowledge Portal: An Open-Access Data Resource to Accelerate Genomic Discoveries in Stroke. | Crawford KM et al. | β | 2018 | β |
| Combining controls can improve power in two-stage association studies. | Liley J | β | 2018 | β |
| Genetic variation within endolysosomal system is associated with late-onset Alzheimer's disease. | Gao S et al. | β | 2018 | β |
| Identification of shared genetic variants between schizophrenia and lung cancer. | Zuber V et al. | β | 2018 | β |
| Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood. | Qi T et al. | β | 2018 | β |
| Inferring Causal Relationships Between Risk Factors and Outcomes from Genome-Wide Association Study Data. | Burgess S et al. | β | 2018 | β |
| Methods for meta-analysis of multiple traits using GWAS summary statistics. | Ray D et al. | β | 2018 | β |
| Multivariate Methods for Meta-Analysis of Genetic Association Studies. | Dimou NL et al. | β | 2018 | β |
| Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes. | BonΓ s-Guarch S et al. | β | 2018 | β |
| Sample Size for Successful Genome-Wide Association Study of Major Depressive Disorder. | Nishino J et al. | β | 2018 | β |
| Statistical Analysis of Multiple Phenotypes in Genetic Epidemiologic Studies: From Cross-Phenotype Associations to Pleiotropy. | Salinas YD et al. | β | 2018 | β |
| Subset-Based Analysis Using Gene-Environment Interactions for Discovery of Genetic Associations across Multiple Studies or Phenotypes. | Yu Y et al. | β | 2018 | β |
| The Roles of 27 Genera of Human Gut Microbiota in Ischemic Heart Disease, Type 2 Diabetes Mellitus, and Their Risk Factors: A Mendelian Randomization Study. | Yang Q et al. | β | 2018 | β |
| ANK3 gene polymorphisms and bipolar disorder: a meta-analysis. | Roby Y | β | 2017 | β |
| Approaches to detect genetic effects that differ between two strata in genome-wide meta-analyses: Recommendations based on a systematic evaluation. | Winkler TW et al. | β | 2017 | β |
| Bayesian association scan reveals loci associated with human lifespan and linked biomarkers. | McDaid AF et al. | β | 2017 | β |
| easyGWAS: A Cloud-Based Platform for Comparing the Results of Genome-Wide Association Studies. | Grimm DG et al. | β | 2017 | β |
| Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies. | El Dib R et al. | β | 2017 | β |
| FOLD: a method to optimize power in meta-analysis of genetic association studies with overlapping subjects. | Kim EE et al. | β | 2017 | β |
| Genetically predicted milk consumption and bone health, ischemic heart disease and type 2 diabetes: a Mendelian randomization study. | Yang Q et al. | β | 2017 | β |
| Increasing the power of meta-analysis of genome-wide association studies to detect heterogeneous effects. | Lee CH et al. | β | 2017 | β |
| Statistical methods to detect pleiotropy in human complex traits. | Hackinger S et al. | β | 2017 | β |
| Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. | Southam L et al. | β | 2017 | β |
| Across-cohort QC analyses of GWAS summary statistics from complex traits. | Chen GB et al. | β | 2016 | β |
| A general framework for meta-analyzing dependent studies with overlapping subjects in association mapping. | Han B et al. | β | 2016 | β |
| A method to decipher pleiotropy by detecting underlying heterogeneity driven by hidden subgroups applied to autoimmune and neuropsychiatric diseases. | Han B et al. | β | 2016 | β |
| Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. | Kar SP et al. | β | 2016 | β |
| Identifying Novel Gene Variants in Coronary Artery Disease and Shared Genes With Several Cardiovascular Risk Factors. | LeBlanc M et al. | β | 2016 | β |
| Meta-Analysis of Genome-Wide Association Studies with Correlated Individuals: Application to the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). | Sofer T et al. | β | 2016 | β |
| An Adaptive Association Test for Multiple Phenotypes with GWAS Summary Statistics. | Kim J et al. | β | 2015 | β |
| A pleiotropy-informed Bayesian false discovery rate adapted to a shared control design finds new disease associations from GWAS summary statistics. | Liley J et al. | β | 2015 | β |
| Cross Cancer Genomic Investigation of Inflammation Pathway for Five Common Cancers: Lung, Ovary, Prostate, Breast, and Colorectal Cancer. | Hung RJ et al. | β | 2015 | β |
| Fast eQTL Analysis for Twin Studies. | Yin Z et al. | β | 2015 | β |
| Genetic overlap between diagnostic subtypes of ischemic stroke. | Holliday EG et al. | β | 2015 | β |
| Genetic Sharing with Cardiovascular Disease Risk Factors and Diabetes Reveals Novel Bone Mineral Density Loci. | Reppe S et al. | β | 2015 | β |
| LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. | Bulik-Sullivan BK et al. | β | 2015 | β |
| Meta-analysis in Stata using gllamm. | Bagos PG | β | 2015 | β |
| Methods for association analysis and meta-analysis of rare variants in families. | Feng S et al. | β | 2015 | β |
| Association of endothelia nitric oxide synthase gene rs1799983 polymorphism with susceptibility to prostate cancer: a meta-analysis. | Wu JH et al. | β | 2014 | β |
| Meta-analysis identifies gene-by-environment interactions as demonstrated in a study of 4,965 mice. | Kang EY et al. | β | 2014 | β |
| Predicting the outcome of platinum-based chemotherapies in epithelial ovarian cancer using the 8092C/A polymorphism of ERCC1: a meta-analysis. | Li Y et al. | β | 2014 | β |
| Shared common variants in prostate cancer and blood lipids. | Andreassen OA et al. | β | 2014 | β |
| Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. | Dichgans M et al. | β | 2014 | β |
| A correlated meta-analysis strategy for data mining "OMIC" scans. | Province MA et al. | β | 2013 | β |
| Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk. | Moskvina V et al. | β | 2013 | β |
| Association between UGT1A1*28 polymorphisms and clinical outcomes of irinotecan-based chemotherapies in colorectal cancer: a meta-analysis in Caucasians. | Liu X et al. | β | 2013 | β |
| Effectively identifying eQTLs from multiple tissues by combining mixed model and meta-analytic approaches. | Sul JH et al. | β | 2013 | β |
| Metformin is associated with survival benefit in cancer patients with concurrent type 2 diabetes: a systematic review and meta-analysis. | Yin M et al. | β | 2013 | β |
| Pleiotropy in complex traits: challenges and strategies. | Solovieff N et al. | β | 2013 | β |
| A subset-based approach improves power and interpretation for the combined analysis of genetic association studies of heterogeneous traits. | Bhattacharjee S et al. | β | 2012 | β |
| Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. | Lill CM et al. | β | 2012 | β |
| Gencrypt: one-way cryptographic hashes to detect overlapping individuals across samples. | Turchin MC et al. | β | 2012 | β |
| On the covariance of two correlated log-odds ratios. | Bagos PG | β | 2012 | β |
| A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease. | Festen EA et al. | β | 2011 | β |
| ERCC1 and ERCC2 polymorphisms predict clinical outcomes of oxaliplatin-based chemotherapies in gastric and colorectal cancer: a systemic review and meta-analysis. | Yin M et al. | β | 2011 | β |
| Optimal methods for meta-analysis of genome-wide association studies. | Zhou B et al. | β | 2011 | β |
| Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience. | Bennett SN et al. | β | 2011 | β |
| Polymorphisms of ERCC1 C118T/C8092A and MDR1 C3435T predict outcome of platinum-based chemotherapies in advanced non-small cell lung cancer: a meta-analysis. | Wei HB et al. | β | 2011 | β |
| A multipoint method for meta-analysis of genetic association studies. | Bagos PG et al. | β | 2010 | β |
| P-value based analysis for shared controls design in genome-wide association studies. | Zaykin DV et al. | β | 2010 | β |