SynthesisJournal of foot and ankle research2020
Genome-wide meta-analysis identified novel variant associated with hallux valgus in Caucasians.
Synthesis in Journal of foot and ankle research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 11 citations in OpenAlex.
- Morphology variations with medial cuneiform in hallux valgus.Anatomical science international · 2024Article
- Identification of copy number variants contributing to hallux valgus.Frontiers in genetics · 2023Article
- New insights into hallux valgus by whole exome sequencing study.Experimental biology and medicine (Maywood, N.J.) · 2021Article
- The Collagens DPY-17 and SQT-3 Direct Anterior-Posterior Migration of the Q Neuroblasts inJournal of developmental biology · 2021Article
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundHallux valgus, one of the most common structural foot deformities, is highly heritable. However, previous efforts to elucidate the genetic underpinnings of hallux valgus through a genome-wide association study (GWAS) conducted in 4409 Caucasians did not identify genome-wide significant associations with hallux valgus in both gender-specific and sex-combined GWAS meta-analyses. In this analysis, we add newly available data and more densely imputed genotypes to identify novel genetic variants associated with hallux valgus.
methodsA total of 5925 individuals of European Ancestry were categorized into two groups: 'hallux valgus present' (n = 2314) or 'no deformity' (n = 3611) as determined by trained examiners or using the Manchester grading scale. Genotyping was performed using commercially available arrays followed by imputation to the Haplotype Reference Consortium (HRC) reference panel version 1.1. We conducted both sex-specific and sex-combined association analyses using logistic regression and generalized estimating equations as appropriate in each cohort. Results were then combined in a fixed-effects inverse-variance meta-analyses. Functional Mapping and Annotation web-based platform (FUMA) was used for positional mapping, gene and gene-set analyses.
resultsWe identified a novel locus in the intronic region of CLCA2 on chromosome 1, rs55807512 (OR = 0.48, p = 2.96E-09), an expression quantitative trait locus for COL24A1, a member of the collagen gene family.
conclusionIn this report of the largest GWAS of hallux valgus to date, we identified a novel genome-wide significant locus for hallux valgus. Additional replication and functional follow-up will be needed to determine the functional role of this locus in hallux valgus biology.
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