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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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Overview

authors

  • Merriman, T. R.
  • Cordell, H. J.
  • Eaves, I. A.
  • Danoy, P. A.
  • Coraddu, F.
  • Barber, R.
  • Cucca, F.
  • Broadley, S.
  • Sawcer, S.
  • Comptson, A.
  • Wordsworth, P.
  • Shatford, J.
  • Laval, S.
  • Jirholt, J.
  • Holmdahl, R.
  • Theofilopoulos, Argyrios
  • Kono, Dwight
  • Tuomilehto, J.
  • Tuomilehto-Wolf, E.
  • Buzzetti, R.
  • Marrosu, M. G.
  • Undlien, D. E.
  • Ronningen, K. S.
  • Ionesco-Tirgoviste, C.
  • Shield, J. P.
  • Pociot, F.
  • Nerup, J.
  • Jacob, C. O.
  • Polychronakos, C.
  • Bain, S. C.
  • Todd, J. A.

publication date

  • 2001

journal

  • Diabetes  Journal

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.

subject areas

  • Animals
  • Arthritis, Rheumatoid
  • Autoimmune Diseases
  • Chromosome Mapping
  • Chromosomes, Human, Pair 18
  • Diabetes Mellitus, Type 1
  • Genes, DCC
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Mice
  • Microsatellite Repeats
  • Multiple Sclerosis
  • Phenotype
  • Rats
  • Sequence Homology
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Identity

International Standard Serial Number (ISSN)

  • 0012-1797

Digital Object Identifier (DOI)

  • 10.2337/diabetes.50.1.184

PubMed ID

  • 11147786
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Additional Document Info

start page

  • 184

end page

  • 194

volume

  • 50

issue

  • 1

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