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Coeliac disease: follow-up linkage study provides further support for existence of a susceptibility locus on chromosome 11p11

Published online by Cambridge University Press:  02 October 2001

A. L. KING ,
J. S. FRASER ,
S. J. MOODIE ,
D. CURTIS ,
A. M. DEARLOVE ,
H. J. ELLIS ,
S. ROSEN-BRONSON  and
P. J. CICLITIRA
A. L. KING
Affiliation:
Gastroenterology Unit, GKT, The Rayne Institute, St. Thomas' Hospital, London SE1 7EH, UK
J. S. FRASER
Affiliation:
Gastroenterology Unit, GKT, The Rayne Institute, St. Thomas' Hospital, London SE1 7EH, UK
S. J. MOODIE
Affiliation:
Gastroenterology Unit, GKT, The Rayne Institute, St. Thomas' Hospital, London SE1 7EH, UK
D. CURTIS
Affiliation:
Academic Department of Psychological Medicine, St Bartholomew's and the Royal London School of Medicine and Dentistry, 3rd Floor Alexandra Wing, Turner Street, London E1, UK
A. M. DEARLOVE
Affiliation:
UK HGMP Resource Centre, Hinxton, Cambridge CB10 1SB, UK
H. J. ELLIS
Affiliation:
Gastroenterology Unit, GKT, The Rayne Institute, St. Thomas' Hospital, London SE1 7EH, UK
S. ROSEN-BRONSON
Affiliation:
Georgetown University Medical Center, Washington, DC, 20007, USA
P. J. CICLITIRA
Affiliation:
Gastroenterology Unit, GKT, The Rayne Institute, St. Thomas' Hospital, London SE1 7EH, UK
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Abstract

Susceptibility to coeliac disease has a strong genetic component. The HLA associations have been well described but it is clear that other genes outside this region must also be involved in disease development. Two previous genome-wide linkage studies using the affected sib pair method produced conflicting results. Our own family based linkage study of 16 highly informative pedigrees identified 17 possibly linked regions, each of which produced a result significant at p < 0.05 or less.

We have now investigated these 17 regions in a larger set of pedigrees using more finely spaced markers. Fifty multiply affected families were studied, comprising the 16 pedigrees from the original genome screen plus 34 new highly informative pedigrees. A total of 128 microsatellite markers were genotyped with an average spacing between markers of 5 cM. Two-point and three-point linkage analysis using classical and model free methods identified five potential susceptibility loci with heterogeneity lod scores > 2.0, at 6p12, 11p11, 17q12, 18q23 and 22q13.3. The most significant was a heterogeneity lod of 2.6 at D11S914 on chromosome 11p11. This marker maps to a position implicated in one of the two previous genome scans and taken together these results provide strong support for the existence of a susceptibility locus in this region.

Type
Research Article
Information
Annals of Human Genetics , Volume 65 , Issue 4 , July 2001 , pp. 377 - 386
Copyright
University College London 2001

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