Article
A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females.
Nature communications - 18 Mar 2015
Sharma Swarkar, Londono Douglas, Eckalbar Walter L, Gao Xiaochong, Zhang Dongping, Mauldin Kristen, Kou Ikuyo, Takahashi Atsushi, Matsumoto Morio, Kamiya Nobuhiro, Murphy Karl K, Cornelia Reuel, Herring John A, Burns Dennis, Ahituv Nadav, Ikegawa Shiro, Gordon Derek, Wise Carol A
Abstract excerpt
Idiopathic scoliosis (IS) is a common paediatric musculoskeletal disease that displays a strong female bias. By performing a genome-wide association study (GWAS) of 3,102 individuals, we identify significant associations with 20p11.22 SNPs for females (P=6.89 × 10(-9)) but not males (P=0.71). This association with IS is also found in independent female cohorts from the United States of America and Japan (overall...
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