We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis.
- Authors
Kou, Ikuyo; Takahashi, Yohei; Johnson, Todd A; Takahashi, Atsushi; Guo, Long; Dai, Jin; Qiu, Xusheng; Sharma, Swarkar; Takimoto, Aki; Ogura, Yoji; Jiang, Hua; Yan, Huang; Kono, Katsuki; Kawakami, Noriaki; Uno, Koki; Ito, Manabu; Minami, Shohei; Yanagida, Haruhisa; Taneichi, Hiroshi; Hosono, Naoya
- Abstract
Adolescent idiopathic scoliosis (AIS) is the most common pediatric skeletal disease. We previously reported a locus on chromosome 10q24.31 associated with AIS susceptibility in Japanese using a genome-wide association study (GWAS) consisting of 1,033 cases and 1,473 controls. To identify additional AIS-associated loci, we expanded the study by adding X-chromosome SNPs in the GWAS and increasing the size of the replication cohorts. Through a stepwise association study including 1,819 cases and 25,939 controls, we identified a new susceptibility locus on chromosome 6q24.1 in Japanese (P = 2.25 × 10−10; odds ratio (OR) = 1.28). The most significantly associated SNP, rs6570507, was in GPR126 (encoding G protein-coupled receptor 126). Its association was replicated in Han Chinese and European-ancestry populations (combined P = 1.27 × 10−14; OR = 1.27). GPR126 was highly expressed in cartilage, and the knockdown of gpr126 in zebrafish caused delayed ossification of the developing spine. Our results should provide insights into the etiology and pathogenesis of AIS.
- Subjects
SCOLIOSIS; MUSCULOSKELETAL system diseases; LOCUS (Genetics); X chromosome; GENOMICS
- Publication
Nature Genetics, 2013, Vol 45, Issue 6, p676
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.2639