SynthesisHuman molecular genetics2019
Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.
Synthesis in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 23 citations in OpenAlex.
- Long-term isolation and archaic introgression shape functional genetic variation in Near Oceania.Science (New York, N.Y.) · 2026Article
- Delayed presentation of infantile hypertrophic pyloric stenosis: a case report.International journal of surgery case reports · 2025Article
- Mechanisms of MTA3 in cancer and related diseases and its clinical applications.Frontiers in oncology · 2025Review
- Congenital Hypertrophic Pyloric Stenosis in a Preterm Dizygotic Female Twin Infant: Case Report.Children (Basel, Switzerland) · 2022Article
- Genetic regulation of spermine oxidase activity and cancer risk: a Mendelian randomization study.Scientific reports · 2021Article
- Integrating genetics with newborn metabolomics in infantile hypertrophic pyloric stenosis.Metabolomics : Official journal of the Metabolomic Society · 2021Article
- Genomic Effects Associated With Response to Placebo Treatment in a Randomized Trial of Irritable Bowel Syndrome.Frontiers in pain research (Lausanne, Switzerland) · 2021Article
- Hypertrophic pyloric stenosis case series in twins and first cousins: genes, feeding patterns or both? (a case report).The Pan African medical journal · 2021Article
- Genome-wide association studies of structural birth defects: A review and commentary.Birth defects research · 2019Review
- An Assessment of Environmental Health Measures in the Deepwater Horizon Research Consortia.Current opinion in toxicology · 2019Article
- Co-occurrence of infantile hypertrophic pyloric stenosis and congenital heart defects: a nationwide cohort study.Pediatric research · 2019Article
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 3 countries.
Funding
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 missense variant in EML4 at 2p21. The second SNP, rs1933683 (OR = 1.34; P = 3.1 × 10-9) is 1 kb downstream of BARX1 at 9q22.32, an essential gene for stomach formation in embryogenesis. Using the genome-wide complex trait analysis method, we estimated the IHPS SNP heritability to be 30%, and using the linkage disequilibrium score regression method, we found support for a previously reported genetic correlation of IHPS with lipid metabolism. By combining the largest collection of IHPS cases to date (3822 cases), with results generalized across populations of different ancestry, we elucidate novel mechanistic avenues of IHPS disease architecture.
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