Skip to main content
main-content
Top

Tip

Swipe om te navigeren naar een ander artikel

01-12-2020 | Research | Uitgave 1/2020 Open Access

Journal of Foot and Ankle Research 1/2020

Genome-wide meta-analysis identified novel variant associated with hallux valgus in Caucasians

Tijdschrift:
Journal of Foot and Ankle Research > Uitgave 1/2020
Auteurs:
Liubov Arbeeva, Michelle Yau, Braxton D. Mitchell, Rebecca D. Jackson, Kathleen Ryan, Yvonne M. Golightly, Marian T. Hannan, Amanda Nelson, Joanne M. Jordan, Marc C. Hochberg
Belangrijke opmerkingen

Supplementary information

Supplementary information accompanies this paper at https://​doi.​org/​10.​1186/​s13047-020-0379-1.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Abstract

Background

Hallux 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.

Methods

A 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.

Results

We 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.

Conclusion

In 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.

Onze productaanbevelingen

BSL Podotherapeut Totaal

Binnen de bundel kunt u gebruik maken van boeken, tijdschriften, e-learnings, web-tv's en uitlegvideo's. BSL Podotherapeut Totaal is overal toegankelijk; via uw PC, tablet of smartphone.

Extra materiaal
Literatuur
Over dit artikel

Andere artikelen Uitgave 1/2020

Journal of Foot and Ankle Research 1/2020 Naar de uitgave