rs11216185 - SIK3

Magnitude 4.5 · 1 study on file

Reported associations

• Common Variants near MBNL1 and NKX2-5 are Associated with Infantile Hypertrophic Pyloric Stenosis - Unknown journal (n.d.) · Unknown authors · PubMed 22306654

  [INTRO] Infantile Hypertrophic Pyloric Stenosis (IHPS) is a severe condition characterized by hypertrophy of the pyloric sphincter muscle. We conducted a genome-wide association study (GWAS) on 1,001 surgery-confirmed cases and 2,401 controls from Denmark. The 6 most strongly associated loci were tested in a replication set of 796 cases and 876 controls. Three SNPs reached genome-wide significance. Rs11712066 (odds ratio (OR) = 1.61, P = 1.5 × 10−17) on 3p25.1 is located 150 kb upstream of MBNL1, which regulates splicing transitions occurring shortly after birth. The second SNP, rs573872 (OR = 1.41, P = 4.3 × 10−12), maps to an intergenic region on 3p25.2 some 1.3 Mb downstream of MBNL1. The third SNP, rs29784 (OR = 1.42, P = 1.5 × 10−15) on 5q35.2, is 64 kb downstream of NKX2-5,

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.