ArticleAmerican journal of human genetics2008
Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- The association of prenatal and postnatal macrolide exposure with subsequent development of infantile hypertrophic pyloric stenosis: a systematic review and meta-analysis.Italian journal of pediatrics · 2019Pooled it
- 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
- "TRP inflammation" relationship in cardiovascular system.Seminars in immunopathology · 2016Review
- Association between NKX2-5 rs29784 and infantile hypertrophic pyloric stenosis in Chinese Han population.International journal of clinical and experimental medicine · 2015Article
- Genetic contribution to motility disorders of the upper gastrointestinal tract.World journal of gastrointestinal pathophysiology · 2013Article
- Infantile hypertrophic pyloric stenosis--genetics and syndromes.Nature reviews. Gastroenterology & hepatology · 2012Review
- No association between the SNPs (rs56134796; rs3824934; rs41302375) in the TRPC6 gene promoter and infantile hypertrophic pyloric stenosis in Chinese people.Pediatric surgery international · 2011Article
- Article
- Transient receptor potential channelopathies.Pflugers Archiv : European journal of physiology · 2010Review
- New insights into the pathogenesis of infantile pyloric stenosis.Pediatric surgery international · 2009Review
- Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing.Human genetics · 2009Article
- Physiology and pathophysiology of canonical transient receptor potential channels.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2009Review
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Infantile hypertrophic pyloric stenosis (IHPS) has an incidence of 1-8 per 1000 live births and is inherited as a complex sex-modified multifactorial trait with a striking male preponderance. Syndromic and monogenic forms exist, and two loci have been identified. Infants present with vomiting due to gastric-outlet obstruction caused by hypertrophy of the smooth muscle of the pylorus. A genome-wide SNP-based high-density linkage scan was carried out on 81 IHPS pedigrees. Nonparametric and parametric linkage analysis identified loci on chromosomes 11q14-q22 (Z(max) = 3.9, p < 0.0001; HLOD(max) = 3.4, alpha = 0.34) and Xq23 (Z(max) = 4.3, p < 0.00001; HLOD(max) = 4.8, alpha = 0.56). The two linked chromosomal regions each harbor functional candidate genes that are members of the canonical transient receptor potential (TRPC) family of ion channels and have a potential role in smooth-muscle control and hypertrophy.
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