Genome-wide High-density SNP-based Linkage Analysis of Infantile Hypertrophic Pyloric Stenosis Identifies Loci on Chromosomes 11q14-q22 and Xq23

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 2008 Mar 1

PMID 18308288

Citations 12

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

Affiliations

Soon will be listed here.

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.

Citing Articles

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