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- W2010301144 abstract "3 Aims: Genomic imprinting, i.e. a different expression of genetic material depending on if they have a maternal or paternal origin, has been described in some diseases. In coeliac disease, imprinting of the allele DQA1*0501-DQB1*02 conferring susceptibility for the disease has been suggested in one study in Italian and Spanish populations [Petronzelli 1997]. This allele is coding for the HLA heterodimer DQα1*0501-DQβ1*02, serologically identified as DQ2 and in linkage disequilibrium with DR3 The aim of this study was to evaluate the hypothesis of imprinting of this gene in a Swedish population. Methods: As part of a family study [Ascher 1997] 96 Swedish coeliac families were studied. Every family member was included: 104 patients with CD, 192 parents and 156 siblings. HLA-typing was done with routine serological methods. The TDT-statistic for DR3-DQ2 transmission from heterozygous parents was stratified for sex in both parents and offsprings. Results: Heterozygosity for HLA DR3-DQ2 was found in 109 parents to affected children. No difference between maternal and paternal transmission to sons and daughters, respectively, was found in χ2-test. (Table)TableConclusions: The hypothesis of genomic imprinting of DQA1*0501-DQB1*02 in coeliac disease could not verified in this study." @default.
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- W2010301144 date "1999-05-01" @default.
- W2010301144 modified "2023-10-17" @default.
- W2010301144 title "NO SUPPORT FOR GENOMIC IMPRINTING OF DQA1*0501-DQB1*02 IN COELIAC DISEASE" @default.
- W2010301144 doi "https://doi.org/10.1097/00005176-199905000-00025" @default.
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