Suggestive evidence for association of human chromosome 18q12-q21 and its orthologue on rat and mouse chromosome 18 with several autoimmune diseases

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Title Suggestive evidence for association of human chromosome 18q12-q21 and its orthologue on rat and mouse chromosome 18 with several autoimmune diseases
Author Merriman, Terry R.; Cordell, Heather J.; Eaves, Iain A.; Danoy, Patrick A.; Coraddu, Francesca; Barber, Rachael; Cucca, Francesco; Broadley, Simon; Sawcer, Stephen; Compston, Alastair; Wordsworth, Paul; Shatford, Jane; Laval, Steve; Jirholt, Johan; Holmdahl, Rikard; Theofilopoulos, Argyrios N.; Kono, Dwight H.; Tuomilehto, Jaako; Tuomilehto-Wolf, Eva; Buzzetti, Raffaella; Marrosu, Maria Giovanna; Undlien, Dag E.; Ronningen, Kjersti S.; Ionesco-Tirgoviste, C.; Shield, Julian P.; Pociot, Fleming; Nerup, Jorn; Jacob, Chaim O.; Polychronakos, Constantin; Bain, Steve C.; Todd, John A.
Journal Name Diabetes
Year Published 2001
Place of publication USA
Publisher American Diabetes Association
Abstract Some immune system disorders, such as type 1 diabetes, multiple sclerosis (MS), and rheumatoid arthritis (RA), share common features: the presence of autoantibodies and self-reactive T-cells, and a genetic association with the major histocompatibility complex. We have previously published evidence, from 1,708 families, for linkage and association of a haplotype of three markers in the D18S487 region of chromosome 18q21 with type 1 diabetes. Here, the three markers were typed in an independent set of 627 families and, although there was evidence for linkage (maximum logarithm of odds score [MLS] = 1.2; P = 0.02), no association was detected. Further linkage analysis revealed suggestive evidence for linkage of chromosome 18q21 to type 1 diabetes in 882 multiplex families (MLS = 2.2; lambdas = 1.2; P = 0.001), and by meta-analysis the orthologous region (also on chromosome 18) is linked to diabetes in rodents (P = 9 x 10(-4)). By meta-analysis, both human chromosome 18q12-q21 and the rodent orthologous region show positive evidence for linkage to an autoimmune phenotype (P = 0.004 and 2 x 10(-8), respectively, empirical P = 0.01 and 2 x 10(-4), respectively). In the diabetes-linked region of chromosome 18q12-q21, a candidate gene, deleted in colorectal carcinoma (DCC), was tested for association with human autoimmunity in 3,380 families with type 1 diabetes, MS, and RA. A haplotype ("2-10") of two newly characterized microsatellite markers within DCC showed evidence for association with autoimmunity (P = 5 x 10(-6)). Collectively, these data suggest that a locus (or loci) exists on human chromosome 18q12-q21 that influences multiple autoimmune diseases and that this association might be conserved between species.
Peer Reviewed Yes
Published Yes
Volume 50
Issue Number 1
Page from 184
Page to 194
ISSN 0012-1797
Date Accessioned 2006-07-28
Language en_US
Research Centre Menzies Health Institute Qld; Molecular Basis of Disease
Faculty Griffith Health Faculty
Subject PRE2009-Endocrinology; PRE2009-Neurology and Neuromuscular Diseases; PRE2009-Rheumatology and Arthritis
Publication Type Journal Articles (Refereed Article)
Publication Type Code c1x

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