Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis

Bjarke FEENSTRA; Frank GELLER; Camilla KROGH; Mads V HOLLEGAARD; Sanne GORTZ; Heather A BOYD; Jeffrey C MURRAY; David M HOUGAARD; Mads MELBYE

doi:10.1038/ng.1067

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Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis

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Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis

Bjarke FEENSTRA, Frank GELLER, Camilla KROGH, Mads V HOLLEGAARD, Sanne GORTZ, Heather A BOYD, Jeffrey C MURRAY, David M HOUGAARD and Mads MELBYE

Nature genetics, Vol.44(3), pp.334-337

2012

DOI: 10.1038/ng.1067

PMCID: PMC3693399

PMID: 22306654

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https://www.ncbi.nlm.nih.gov/pmc/articles/3693399View

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Abstract

nfantile 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 six most strongly associated loci were tested in a replication set of 796 cases and 876 controls. Three SNPs reached genome-wide significance. One of these SNPs, rs11712066 (odds ratio (OR) = 1.61; P = 1.5 × 10(-17)) at 3p25.1, is located 150 kb upstream of MBNL1, which encodes a factor that regulates splicing transitions occurring shortly after birth. The second SNP, rs573872 (OR = 1.41; P = 4.3 × 10(-12)), maps to an intergenic region at 3p25.2 approximately 1.3 Mb downstream of MBNL1. The third SNP, rs29784 (OR = 1.42; P = 1.5 × 10(-15)) at 5q35.2, is 64 kb downstream of NKX2-5, which is involved in development of cardiac muscle tissue and embryonic gut development.

Fundamental and applied biological sciences. Psychology

Biological and medical sciences

Genetics of eukaryotes. Biological and molecular evolution

Details

Title: Subtitle: Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis
Creators: Bjarke FEENSTRA - Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark
Frank GELLER - Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark
Camilla KROGH - Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark
Mads V HOLLEGAARD - Section of Neonatal Screening and Hormones, Statens Serum Institut, Copenhagen, Denmark
Sanne GORTZ - Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark
Heather A BOYD - Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark
Jeffrey C MURRAY - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States
David M HOUGAARD - Section of Neonatal Screening and Hormones, Statens Serum Institut, Copenhagen, Denmark
Mads MELBYE - Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark
Resource Type: Journal article
Publication Details: Nature genetics, Vol.44(3), pp.334-337
DOI: 10.1038/ng.1067
PMID: 22306654
PMCID: PMC3693399
NLM abbreviation: Nat Genet
ISSN: 1061-4036
eISSN: 1546-1718
Publisher: Nature Publishing Group; New York, NY
Language: English
Date published: 2012
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025342802771

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