Abstract
The aim of study was genetic analysis in 24 members of three-generation family strongly affected by coeliac disease (CD). Excepting this one, other autoimmune diseases (AD) such as type 1 diabetes (T1D) and systemic lupus erythematodes (SLE) were diagnosed within the family. The key role of genetic predisposition play alleles encoding the HLA-molecules (HLA-DQA1*0501 and HLA-DQB1*02 encoding HLA-DQ2 molecule, HLA-DQA1*0301 and HLA-DQB1*0302 encoding HLA-DQ8 molecule, both associated with CD and T1D, HLA-DRB1*0301 and HLA-DRB1*1501 associated with SLE). We studied a correlation between presence of HLA-alleles and manifestation of these AD.
Methods: Peripheral blood DNA was used for detection of HLA alleles by the PCR-SSP technique. For statistical verification was used Fisher's exact test with 95% confidence interval.
Results: We confirmed a linkage between HLA-DQ2 molecule and manifestation of CD and T1D (P=0.0003, RR=0.1765, CI=0.06318-0.4929) with the strongest effect of HLA-DQB1*0201 allele (P=0.0119, RR=0.2059, CI=0.05966-0.7105). We have not confirmed HLA-DRB1*0301 and HLA- DRB1*1501 alleles in member with SLE.
Conclusion: The prevalence of CD in family is strongly associated with carriage of HLA-DQ2 molecule. Only one member of the family carrying this molecule has manifested T1D. With regard to preponderant manifestation of CD in family we suppose in this person influence of some other genes shifting manifestation of autoimmunity towards T1D. The unknown genetic factors are probably responsible for case of SLE, thus proving existence of complex genetic predisposition to various autoimmune diseases in family. Testing of other genes is in progress now.
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Cibulova, A., Cejkova, P., Marx, D. et al. 290 Analysis of Genetic Predisposition in Large Three-Generation Family with Manifestation of Multiple Autoimmune Diseases. Pediatr Res 68 (Suppl 1), 149–150 (2010). https://doi.org/10.1203/00006450-201011001-00290
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DOI: https://doi.org/10.1203/00006450-201011001-00290