Expressive

rs11712066 - LINC02917

Magnitude 4.5 · 3 studies on file

Reported associations

  • Plasma Lipids, Genetic Variants near APOA1, and the Risk of Infantile Hypertrophic Pyloric Stenosis - Unknown journal (n.d.) · Unknown authors · PubMed 23989729

    ABSTRACT: Importance Infantile Hypertrophic Pyloric Stenosis (IHPS) is a serious condition in which hypertrophy of the pyloric sphincter muscle layer leads to gastric outlet obstruction. IHPS shows strong familial aggregation and heritability, but knowledge about specific genetic risk variants is limited. Objective To search the genome comprehensively for genetic associations with IHPS and validate findings in three independent sample sets. Design, Setting, and Participants In stage 1, we used reference data from the 1000 Genomes Project for imputation into a genome-wide dataset of 1001 Danish surgery-confirmed cases (diagnosed between 1987-2008) and 2371 disease-free controls. In stage 2, the five most significantly associated loci were tested in independent case-control sample sets fro

  • 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,

  • Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis - Unknown journal (n.d.) · Unknown authors · PubMed 30281099

    ABSTRACT: Abstract Infantile hypertrophic pyloric stenosis (IHPS) is a disorder of young infants with a population incidence of ∼2/1000 live births, caused by hypertrophy of the pyloric sphincter smooth muscle. Reported genetic loci associated with IHPS explain only a minor proportion of IHPS risk. To identify new risk loci, we carried out a genome-wide meta-analysis on 1395 surgery-confirmed cases and 4438 controls, with replication in a set of 2427 cases and 2524 controls. We identified and replicated six independent genomic loci associated with IHPS risk at genome wide significance (P < 5 × 10−8), including novel associations with two single nucleotide polymorphisms (SNPs). One of these SNPs, rs6736913 [odds ratio (OR) = 2.32; P = 3.0 × 10−15], is a low frequency misse

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