DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Adolescent idiopathic scoliosis (severe). The EFO term adolescent idiopathic scoliosis was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: adolescent idiopathic scoliosis

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

A Miyake, I Kou, Y Takahashi, TA Johnson, Y Ogura, J Dai, X Qiu, A Takahashi, H Jiang, H Yan, K Kono, N Kawakami, K Uno, M Ito, S Minami, H Yanagida, H Taneichi, N Hosono, T Tsuji, T Suzuki, H Sudo, T Kotani, I Yonezawa, M Kubo, T Tsunoda, K Watanabe, K Chiba, Y Toyama, Y Qiu, M Matsumoto, S Ikegawa

TITLE:

Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3.

JOURNAL:

PloS one None 2013, Vol 8, pp. e72802

ABSTRACT:

Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity, affecting around 2% of adolescents worldwide. Genetic factors play an important role in its etiology. Using a genome-wide association study (GWAS), we recently identified novel AIS susceptibility loci on chromosomes 10q24.31 and 6q24.1. To identify more AIS susceptibility loci relating to its severity and progression, we performed GWAS by limiting the case subjects to those with severe AIS. Through a two-stage association study using a total of ∼12,000 Japanese subjects, we identified a common variant, rs12946942 that showed a significant association with severe AIS in the recessive model (P=4.00 × 10(-8), odds ratio [OR]=2.05). Its association was replicated in a Chinese population (combined P=6.43 × 10(-12), OR = 2.21). rs12946942 is on chromosome 17q24.3 near the genes SOX9 and KCNJ2, which when mutated cause scoliosis phenotypes. Our findings will offer new insight into the etiology and progression of AIS. PUBMED: 24023777
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