Abstract
Objective: Type1Diabetes Mellitus (T1DM) is an autoimmune disease in which HLA gene polymorphisms vary according to region, race and ethnicity. Although there are many studies involving mostly DR-DQ haplotypes, there are fewer reports investigating the association of class I HLA-A, B and C alleles. The aim of the study was to investigate the distribution of HLA class I and II alleles in Turkish children with T1DM.
Material and Methods: 98 (45 girls, 53 boys) children with T1DM diagnosed between 2017-2019 and 80 (41 girls, 39 boys) healthy children were screened for HLA A-B-C and DQ-DR alleles. HLA molecular analyzes were performed by PCR method. Chi-square test was used to measure the difference between alleles and DQ-DRhaplotypes. Odds Ratio (OD) was calculated for each variable.
Results: The most common alleles in children with T1DM were DQ2 (n=60; 61.22%) and DR3 (n=48; 49%). DQ3 and DR4 were 34.7% (n=34) and 25.5% (n=25). The most common allelesin the HLA class I were HLA-A2 (n=36; 36.8%) and HLA-A3 (n=26; 26.6%). The frequency of the other alleles were as follows: HLA-C7 25.5% (n=25), HLA-C4 20.4% (n=20) HLA-B8 18.8% (n=18), HLA-B35 15.3% (n=15). The most common haplotypes were DRB1*03-DQB1*02 (n=48;49%), DRB1*04-DQB1*03 (n=19; 19.3%), and DRB1*01-DQB1*05 (n=11; 11.2%), respectively. The most risky haplotypes for T1DM were DRB1*03-DQB1*02 (OR= 11.84) DRB1*01-DQB1*05 (OR=9.98) and DRB1*04-DQB1*02 (OR=5.15), while the most risky alleles were DQ2 (OR=7.44) and DR3 (OR=6.02).
Conclusion: In this study, the most risky HLA alleles and haplotypes in Turkish children wtih T1DM were DR3-DQ2 and DRB1*03-DQB1*02, DRB1*04-DQB1*03, DRB1*01-DQB1*05, and the increased frequencies ofHLA-A2/A3, C7 / C4 and HLA B8 / 35 alleles were found in the HLA class I. These findings suggest that there is an increased frequency of HLA class II HLA DR3-DQ2 allele groups in Turkish children with T1DM, and the relationship between T1DM and HLA I class gene regions should be investigated because of the increased frequency of some HLA-A/B/C alleles.
Keywords: Class I and II HLA alleles, HLA-DR, HLA DQ, Type 1 diabetes mellitus
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