Document Detail

Coeliac disease and Down syndrome: associations not due to genetic linkage on chromosome 21.
MedLine Citation:
PMID:  10720116     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Individuals with Down syndrome have an increased prevalence of coeliac disease (CD). The HLA region accounts for only 30% of the heritability of CD, and segregation analyses have suggested the involvement of at least one other non-HLA gene. Distribution of known HLA susceptibility types in Down syndrome and normal populations are similar and do not explain the difference in disease frequency. This study tests the hypothesis that the association between these disorders is due to a susceptibility gene for coeliac disease being present on chromosome 21. METHODS: We studied 21 families multiply affected with CD, none of whom had Down syndrome. The typing information of six microsatellite markers across chromosome 21 was used to test linkage. RESULTS: Negative results from lod score and model-free linkage analysis were obtained, providing no support for genetic linkage of coeliac disease to chromosome 21 in this population. CONCLUSIONS: The high prevalence of coeliac disease in Down syndrome is not due to an increased copy number of a polymorphic susceptibility gene on chromosome 21.
M A Morris; J Y Yiannakou; A L King; P M Brett; F Biagi; R Vaughan; D Curtis; P J Ciclitira
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Scandinavian journal of gastroenterology     Volume:  35     ISSN:  0036-5521     ISO Abbreviation:  Scand. J. Gastroenterol.     Publication Date:  2000 Feb 
Date Detail:
Created Date:  2000-04-07     Completed Date:  2000-04-07     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0060105     Medline TA:  Scand J Gastroenterol     Country:  NORWAY    
Other Details:
Languages:  eng     Pagination:  177-80     Citation Subset:  IM    
Gastroenterology Unit (GKT), The Rayne Institute, St Thomas' Hospital, London, UK.
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MeSH Terms
Celiac Disease / complications*,  genetics
Chromosomes, Human, Pair 21 / genetics*
Down Syndrome / complications*,  genetics
Linkage (Genetics)*
Lod Score
Microsatellite Repeats
Polymerase Chain Reaction
Risk Factors
Grant Support

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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