ArticleEuropean journal of human genetics : EJHG2012
Genome-wide analysis of epistasis in body mass index using multiple human populations.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Identification of shared genetic susceptibility locus for coronary artery disease, type 2 diabetes and obesity: a meta-analysis of genome-wide studies.Cardiovascular diabetology · 2012Pooled it
- Analysis of gene-gene interactions among common variants in candidate cardiovascular genes in coronary artery disease.PloS one · 2015Trial
- Mapping of genotype-by-environment interaction loci for Metabolic Syndrome-like traits using the multi-parentbioRxiv : the preprint server for biology · 2025Article
- SORCS2 activity in pancreatic α-cells safeguards insulin granule formation and release from glucose-stressed β-cells.iScience · 2024Article
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- Leveraging the genetic correlation between traits improves the detection of epistasis in genome-wide association studies.G3 (Bethesda, Md.) · 2023Article
- Indigenous people from Amazon show genetic signatures of pathogen-driven selection.Science advances · 2023Article
- Concurrent outcomes from multiple approaches of epistasis analysis for human body mass index associated loci provide insights into obesity biology.Scientific reports · 2022Article
- Detection of epistasis between ACTN3 and SNAP-25 with an insight towards gymnastic aptitude identification.PloS one · 2020Article
- Clinical Implications of Single Nucleotide Polymorphisms in Diagnosis of Asthma and its Subtypes.Yonsei medical journal · 2019Review
- Genome-Wide Interaction and Pathway Association Studies for Body Mass Index.Frontiers in genetics · 2019Article
- Genome-wide search for higher order epistasis as modifiers of treatment effects on bone mineral density in childhood cancer survivors.European journal of human genetics : EJHG · 2018Article
- Influence of SNP*SNP interaction on BMI in European American adolescents: findings from the National Longitudinal Study of Adolescent Health.Pediatric obesity · 2016Article
- Paradoxical Relationship Between Body Mass Index and Thyroid Hormone Levels: A Study Using Mendelian Randomization.The Journal of clinical endocrinology and metabolism · 2016Observational
- The role of the retromer complex in aging-related neurodegeneration: a molecular and genomic review.Molecular genetics and genomics : MGG · 2015Review
- Detecting epistasis in human complex traits.Nature reviews. Genetics · 2014Review
- Abundant local interactions in the 4p16.1 region suggest functional mechanisms underlying SLC2A9 associations with human serum uric acid.Human molecular genetics · 2014Article
- Weighted Interaction SNP Hub (WISH) network method for building genetic networks for complex diseases and traits using whole genome genotype data.BMC systems biology · 2014Article
- Article
- How genome-wide SNP-SNP interactions relate to nasopharyngeal carcinoma susceptibility.PloS one · 2013Article
Corrections and comments
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Authors and funding
18 authors at 6 institutions in 5 countries.
Funding
Abstract
We surveyed gene-gene interactions (epistasis) in human body mass index (BMI) in four European populations (n<1200) via exhaustive pair-wise genome scans where interactions were computed as F ratios by testing a linear regression model fitting two single-nucleotide polymorphisms (SNPs) with interactions against the one without. Before the association tests, BMI was corrected for sex and age, normalised and adjusted for relatedness. Neither single SNPs nor SNP interactions were genome-wide significant in either cohort based on the consensus threshold (P=5.0E-08) and a Bonferroni corrected threshold (P=1.1E-12), respectively. Next we compared sub genome-wide significant SNP interactions (P<5.0E-08) across cohorts to identify common epistatic signals, where SNPs were annotated to genes to test for gene ontology (GO) enrichment. Among the epistatic genes contributing to the commonly enriched GO terms, 19 were shared across study cohorts of which 15 are previously published genome-wide association loci, including CDH13 (cadherin 13) associated with height and SORCS2 (sortilin-related VPS10 domain containing receptor 2) associated with circulating insulin-like growth factor 1 and binding protein 3. Interactions between the 19 shared epistatic genes and those involving BMI candidate loci (P<5.0E-08) were tested across cohorts and found eight replicated at the SNP level (P<0.05) in at least one cohort, which were further tested and showed limited replication in a separate European population (n>5000). We conclude that genome-wide analysis of epistasis in multiple populations is an effective approach to provide new insights into the genetic regulation of BMI but requires additional efforts to confirm the findings.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.