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Title: Variants within protectin (CD59) and CD44 genes linked to an inherited haplotype in a family with coeliac disease
Authors: Vidal, Christopher
Borg, Joseph
Xuereb-Anastasi, Angela
Scerri, Christian A.
Keywords: Celiac disease
Celiac disease -- Malta -- Case studies
Celiac disease -- Genetic aspects
RNA splicing
Issue Date: 2009
Publisher: John Wiley & Sons A/S
Citation: Vidal, C., Borg, J., Xuereb-Anastasi, A., & Scerri, Christian A. (2009). Variants within protectin (CD59) and CD44 genes linked to an inherited haplotype in a family with coeliac disease. Tissue Antigens, 73(3), 225–235.
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 (P = 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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