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=0.71). This association with IS is also found in independent female cohorts from the United States of America and Japan (overall P=2.15 × 10(-10), OR=1.30 (rs6137473)). Unexpectedly, the 20p11.22 IS risk alleles were previously associated with protection from early-onset alopecia, another sexually dimorphic condition. The 174-kb associated locus is distal to PAX1, which encodes paired box 1, a transcription factor involved in spine development. We identify a sequence in the associated locus with enhancer activity in zebrafish somitic muscle and spinal cord, an activity that is abolished by IS-associated SNPs. We thus identify a sexually dimorphic IS susceptibility locus, and propose the first functionally defined candidate mutations in an enhancer that may regulate expression in specific spinal cells.
journal_name
Nat Communjournal_title
Nature communicationsauthors
Sharma S,Londono D,Eckalbar WL,Gao X,Zhang D,Mauldin K,Kou I,Takahashi A,Matsumoto M,Kamiya N,Murphy KK,Cornelia R,TSRHC Scoliosis Clinical Group.,Japan Scoliosis Clinical Research Group.,Herring JA,Burns D,Ahituv N,Ikedoi
10.1038/ncomms7452subject
Has Abstractpub_date
2015-03-18 00:00:00pages
6452issn
2041-1723pii
ncomms7452journal_volume
6pub_type
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