ArticleJAMA2013
Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis.
Article in JAMA, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 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
- Treatment outcome and associated factors of infantile hypertrophic pyloric stenosis at eastern Ethiopia public hospitals.BMC surgery · 2024Article
- Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report.Italian journal of pediatrics · 2022Article
- Hypertrophic Pyloric Stenosis: 10 Years' Experience with Standard Open and Laparoscopic Approach.Pediatric gastroenterology, hepatology & nutrition · 2021Article
- 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
- White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies.Developmental biology · 2016Review
- Use of macrolides in mother and child and risk of infantile hypertrophic pyloric stenosis: nationwide cohort study.BMJ (Clinical research ed.) · 2014Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 3 countries.
Funding
Abstract
importanceInfantile hypertrophic pyloric stenosis (IHPS) is a serious condition in which hypertrophy of the pyloric sphincter muscle layer leads to gastric outlet obstruction. Infantile hypertrophic pyloric stenosis shows strong familial aggregation and heritability, but knowledge about specific genetic risk variants is limited.
objectivesTo search the genome comprehensively for genetic associations with IHPS and validate findings in 3 independent sample sets. DESIGN, SETTING, AND
participantsDuring stage 1, we used reference data from the 1000 Genomes Project for imputation into a genome-wide data set of 1001 Danish surgery-confirmed samples (cases diagnosed 1987-2008) and 2371 disease-free controls. In stage 2, the 5 most significantly associated loci were tested in independent case-control sample sets from Denmark (cases diagnosed 1983-2010), Sweden (cases diagnosed 1958-2011), and the United States (cases diagnosed 1998-2005), with a total of 1663 cases and 2315 controls. MAIN OUTCOMES AND MEASURES: Association of genetic variation with the presence of infantile hypertrophic pyloric stenosis.
resultsWe found a new genome-wide significant locus for IHPS at chromosome 11q23.3. The single-nucleotide polymorphism (SNP) with the lowest P value at the locus, rs12721025 (odds ratio [OR], 1.59; 95% CI, 1.38-1.83; P = 1.9 × 10(-10)), is located 301 bases downstream of the apolipoprotein A-I (APOA1) gene and is correlated (r2 between 0.46 and 0.80) with SNPs previously found to be associated with levels of circulating cholesterol. For these SNPs, the cholesterol-lowering allele consistently was associated with increased risk of IHPS. CONCLUSIONS AND RELEVANCE: This study identified a new genome-wide significant locus for IHPS. Characteristics of this locus suggest the possibility of an inverse relationship between levels of circulating cholesterol in neonates and IHPS risk, which warrants further investigation.
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