Genome-wide association meta-analyses to identify common genetic variants associated with hallux valgus in Caucasian and African Americans

Journal of Medical Genetics
Yi-Hsiang HsuJoanne M Jordan

Abstract

Hallux valgus (HV) affects ∼36% of Caucasian adults. Although considered highly heritable, the underlying genetic determinants are unclear. We conducted the first genome-wide association study (GWAS) aimed to identify genetic variants associated with HV. HV was assessed in three Caucasian cohorts (n=2263, n=915 and n=1231 participants, respectively). In each cohort, a GWAS was conducted using 2.5 M imputed SNPs. Mixed-effect regression with the additive genetic model adjusted for age, sex, weight and within-family correlations was used for both sex-specific and combined analyses. To combine GWAS results across cohorts, fixed-effect inverse-variance meta-analyses were used. Following meta-analyses, top-associated findings were also examined in an African American cohort (n=327). The proportion of HV variance explained by genome-wide genotyped SNPs was 50% in men and 48% in women. A higher proportion of genetic determinants of HV were sex specific. The most significantly associated SNP in men was rs9675316 located on chr17q23-a24 near the AXIN2 gene (p=0.000000546×10(-7)); the most significantly associated SNP in women was rs7996797 located on chr13q14.1-q14.2 near the ESD gene (p=0.000000721×10(-7)). Genome-wide significant SNP-...Continue Reading

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Citations

Feb 3, 2016·The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences·Hylton B MenzPeter R Croft
Apr 17, 2018·The Journal of International Medical Research·Lei Yang, Maowei Yang
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Oct 17, 2019·BMC Musculoskeletal Disorders·Stephan H WirthThorsten Jentzsch
May 1, 2021·Experimental Biology and Medicine·Jun JiaJin Li

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