A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females

Sharma, Swarkar; Londono, Douglas; L. Eckalbar, Walter; Gao, Xiaochong; Zhang, Dongping; Mauldin, Kristen; Kou, Ikuyo; Takahashi, Atsushi; Matsumoto, Morio; Kamiya, Nobuhiro; K. Murphy, Karl; Cornelia, Reuel; Scoliosis Clinical Group, TSRHC; Karol, L.; Rathjen, K.; Sucato, D.; Birch, J.; Johnston, C.; S. Richards, B.; Milbrandt, T.; Talwakar, V.; Iwinski, H.; Muchow, R.; C. Tassone, J.; -C. Liu, X.; Shindell, R.; Schrader, W.; Eberson, C.; Lapinsky, A.; Loder, R.; Davey, J.; Scoliosis Clinical Research Group, Japan; Hosogane, Naobumi; Ogura, Yoji; Takahashi, Yohei; Miyake, Atushi; Watanabe, Kota; Chiba, Kazuhiro; Toyama, Yoshiaki; Kono, Katsuki; Kawakami, Noriaki; Tsuji, Taichi; Uno, Koki; Suzuki, Teppei; Ito, Manabu; Sudo, Hideki; Minami, Shohei; Kotani, Toshiaki; Yanagida, Haruhisa; Taneichi, Hiroshi; Yonezawa, Ikuho; Kaneko, Kazuo; A. Herring, John; Burns, Dennis; Ahituv, Nadav; Ikegawa, Shiro; Gordon, Derek; A. Wise, Carol

doi:10.1038/ncomms7452

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A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females

Shared by NobleBlocks on Mar 18, 2015 • 12:00 AM UTC

Authors:

Swarkar Sharma

Douglas Londono

Walter L. Eckalbar

Abstract

Abstract 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 =...

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