Referenced in: none

Automatically associated channels: Kir6.2

Title: Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.

Authors: Kate V Everett, Barry A Chioza, Christina Georgoula, Ashley Reece, Francesca Capon, Keith A Parker, Cathy Cord-Udy, Paul McKeigue, Sally Mitton, Agostino Pierro, Prem Puri, Hannah M Mitchison, Eddie M K Chung, R Mark Gardiner

Journal, date & volume: Am. J. Hum. Genet., 2008 Mar , 82, 756-62

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/18308288

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.