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

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

doi:10.1016/j.ajhg.2007.12.023

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

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

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Abstract / Description of output

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; HLODmax = 3.4, alpha = 0.34) and Xq23 (Z(max) = 4.3, p < 0.00001; HLODmax = 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.

Original language	English
Pages (from-to)	756-762
Number of pages	7
Journal	American Journal of Human Genetics
Volume	82
Issue number	3
DOIs	https://doi.org/10.1016/j.ajhg.2007.12.023
Publication status	Published - Mar 2008

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10.1016/j.ajhg.2007.12.023

Genome-wide High-Density SNP-Based Linkage Analysis of Infantile Hypertrophic Py
Copyright © 2008 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. This document may be redistributed and reused
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Everett, K. V., Chioza, B. A., Georgoula, C., Reece, A., Capon, F., Parker, K. A., Cord-Udy, C., McKeigue, P., Mitton, S., Pierro, A., Puri, P., Mitchison, H. M., Chung, E. M. K., & Gardiner, R. M. (2008). Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11ql4-q22 and xq23. American Journal of Human Genetics, 82(3), 756-762. https://doi.org/10.1016/j.ajhg.2007.12.023

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

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; HLODmax = 3.4, alpha = 0.34) and Xq23 (Z(max) = 4.3, p < 0.00001; HLODmax = 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.",

author = "Everett, {Kate V.} and Chioza, {Barry A.} and Christina Georgoula and Ashley Reece and Francesca Capon and Parker, {Keith A.} and Cathy Cord-Udy and Paul McKeigue and Sally Mitton and Agostino Pierro and Prern Puri and Mitchison, {Hannah M.} and Chung, {Eddie M. K.} and Gardiner, {R. Mark}",

year = "2008",

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doi = "10.1016/j.ajhg.2007.12.023",

language = "English",

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journal = "American Journal of Human Genetics",

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Everett, KV, Chioza, BA, Georgoula, C, Reece, A, Capon, F, Parker, KA, Cord-Udy, C, McKeigue, P, Mitton, S, Pierro, A, Puri, P, Mitchison, HM, Chung, EMK & Gardiner, RM 2008, 'Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11ql4-q22 and xq23', American Journal of Human Genetics, vol. 82, no. 3, pp. 756-762. https://doi.org/10.1016/j.ajhg.2007.12.023

TY - JOUR

T1 - Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11ql4-q22 and xq23

AU - Everett, Kate V.

AU - Chioza, Barry A.

AU - Georgoula, Christina

AU - Reece, Ashley

AU - Capon, Francesca

AU - Parker, Keith A.

AU - Cord-Udy, Cathy

AU - McKeigue, Paul

AU - Mitton, Sally

AU - Pierro, Agostino

AU - Puri, Prern

AU - Mitchison, Hannah M.

AU - Chung, Eddie M. K.

AU - Gardiner, R. Mark

PY - 2008/3

Y1 - 2008/3

N2 - 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; HLODmax = 3.4, alpha = 0.34) and Xq23 (Z(max) = 4.3, p < 0.00001; HLODmax = 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.

AB - 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; HLODmax = 3.4, alpha = 0.34) and Xq23 (Z(max) = 4.3, p < 0.00001; HLODmax = 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.

U2 - 10.1016/j.ajhg.2007.12.023

DO - 10.1016/j.ajhg.2007.12.023

M3 - Article

SN - 0002-9297

VL - 82

SP - 756

EP - 762

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 3

ER -

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

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