Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11ql4-q22 and xq23

被引：32

作者：

Everett, Kate V. ^{[1
]}

Chioza, Barry A. ^{[1
]}

Georgoula, Christina ^{[1
]}

Reece, Ashley ^{[1
]}

Capon, Francesca ^{[1
]}

Parker, Keith A. ^{[1
]}

Cord-Udy, Cathy ^{[2
]}

McKeigue, Paul ^{[1
]}

Mitton, Sally ^{[3
]}

Pierro, Agostino ^{[1
]}

Puri, Prern ^{[4
]}

Mitchison, Hannah M. ^{[1
]}

Chung, Eddie M. K. ^{[1
]}

Gardiner, R. Mark ^{[1
]}

机构：

[1] UCL, Inst Child Hlth, London WC1N 1EH, England

[2] Barts & London NHS Trust, London E1 1BB, England

[3] St Georges Heatlthcare NHS Trust, London SW17 0QT, England

[4] Our Ladys Childrens Hosp, Dublin 12, Ireland

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2008年 / 82卷 / 03期

关键词：

D O I：

10.1016/j.ajhg.2007.12.023

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

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.

引用

页码：756 / 762

页数：7

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