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Variants within protectin (CD59) and CD44 genes linked to an inherited haplotype in a family with coeliac disease

Authors

  • C. Vidal,

    1. Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida, Malta
    2. Institute of Healthcare, University of Malta, Msida, Malta
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  • J. Borg,

    1. Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida, Malta
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  • A. Xuereb-Anastasi,

    1. Institute of Healthcare, University of Malta, Msida, Malta
    2. DNA Laboratory, Department of Pathology, Medical School, University of Malta, Msida, Malta
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  • C. A. Scerri

    Corresponding author
    1. Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida, Malta
    2. Institute of Healthcare, University of Malta, Msida, Malta
      Dr Christian A. Scerri, MD, PhD
      Laboratory of Molecular Genetics
      Department of Physiology and Biochemistry
      University of Malta
      Msida
      Malta
      Tel: +356 2340 2774
      Fax: +356 2134 3535
      e-mail: cas@biotech.um.edu.mt
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Dr Christian A. Scerri, MD, PhD
Laboratory of Molecular Genetics
Department of Physiology and Biochemistry
University of Malta
Msida
Malta
Tel: +356 2340 2774
Fax: +356 2134 3535
e-mail: cas@biotech.um.edu.mt

Abstract

Coeliac disease (CD) is an autoimmune disorder characterised by inflammation, villous atrophy and hyperplasia of the small intestinal mucosa that affects genetically susceptible individuals. A genome-wide scan was performed in 17 family members with high incidence of CD. Highest nonparametric linkage (NPL) and logarithm of odds (LOD) scores were of 6.21 (= 0.0107) and 2.57, respectively, to a region on chromosome 11p13-12. Following fine mapping, NPL and LOD scores did not change, but the linkage interval on chromosome 11 was narrowed to a region that is approximately 50.94 cM from pTer. Two inherited haplotypes on chromosomes 11p13-12 and 9q21 were observed in all affected members but not in the majority of clinically normal individuals. Sequencing of genes at region 11p13-12 showed a number of sequence variants, two of which were linked with the inherited haplotype. One of these variants in the CD59 gene was found at a very low frequency in the population and could possibly affect pre-messenger RNA splicing. This study is of particular importance for the identification of novel genes that might be responsible for CD other than human leukocyte antigen.

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