ArticleNature genetics2012
Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.Human molecular genetics · 2019Pooled it
- MBNL1 Promotes Intestinal Fibrosis via RAS-MAPK Pathway-Mediated Fibroblast Activation and Proliferation.Biomedicines · 2026Article
- Treatment outcome and associated factors of infantile hypertrophic pyloric stenosis at eastern Ethiopia public hospitals.BMC surgery · 2024Article
- Integrating genetics with newborn metabolomics in infantile hypertrophic pyloric stenosis.Metabolomics : Official journal of the Metabolomic Society · 2021Article
- Genome-wide association studies of structural birth defects: A review and commentary.Birth defects research · 2019Review
- Co-occurrence of infantile hypertrophic pyloric stenosis and congenital heart defects: a nationwide cohort study.Pediatric research · 2019Article
- A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.Pediatric research · 2017Article
- Stomach development, stem cells and disease.Development (Cambridge, England) · 2016Review
- High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.PloS one · 2016Article
- Article
- Association between NKX2-5 rs29784 and infantile hypertrophic pyloric stenosis in Chinese Han population.International journal of clinical and experimental medicine · 2015Article
- Use of macrolides in mother and child and risk of infantile hypertrophic pyloric stenosis: nationwide cohort study.BMJ (Clinical research ed.) · 2014Article
- Proper development of the outer longitudinal smooth muscle of the mouse pylorus requires Nkx2-5 and Gata3.Gastroenterology · 2014Article
- Genetic contribution to motility disorders of the upper gastrointestinal tract.World journal of gastrointestinal pathophysiology · 2013Article
- Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis.JAMA · 2013Article
- Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight.Human molecular genetics · 2012Article
- Infantile hypertrophic pyloric stenosis--genetics and syndromes.Nature reviews. Gastroenterology & hepatology · 2012Review
- Genomics, personalized medicine, and pediatrics.Academic pediatricsReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
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 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.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.