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- W2076517461 abstract "55 HLA DQ on chromosome 6p21 is the only established susceptibility locus for celiac disease (CD) but it does not explain the whole genetic risk for the disease. We tested the linkage and association between CD and CTLA4/CD28 gene region on chromosome 2q33. These molecules are costimulatory receptors regulating T-lymphocyte activation. The genes encoding them have been reported to be linked to IDDM and many other autoimmune diseases. An allelic association with celiac disease has recently been found in a French case-control study. At first, seven marker loci spanning 3.3 cM of this gene region, were genotyped in 69 Finnish CD families having at least two affected siblings. The data was analysed for nonparametric linkage (NPL), transmission/disequilibrium test (TDT) and allelic association. Then, the study was replicated in an additional set of 31 families. In the first set of families the NPL scores ranged from 1.14 to 1.73 (p=0.12 - 0.04), the highest score being for marker D2S116. Analysis of the 31 additional families further strengthened the linkage, and the NPL scores in the combined set of 100 families were 1.90 - 2.55 (p=0.029 - 0.006), supporting genuine linkage with CD. Locus D2S116 also showed allelic association and TDT gave preliminary evidence for preferential maternal non-transmission of one D2S116 allele to patients (TDT=8.3, p<0.05). Our results indicate that the CD28/CTLA4 gene region can contain a novel susceptibility locus for CD and support the hypothesis that CD has an immune system mediated component. Like the HLA, the CD28/CTLA4 genes appear to be associated with genetic susceptibility to various autoimmune diseases." @default.
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- W2076517461 date "1999-05-01" @default.
- W2076517461 modified "2023-09-26" @default.
- W2076517461 title "CD28/CTLA4 GENE REGION ON CHROMOSOME 2q33 CONFERS GENETIC SUSCEPTIBILITY TO CELIAC DISEASE" @default.
- W2076517461 doi "https://doi.org/10.1097/00005176-199905000-00077" @default.
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