Romanian Society of Pharmaceutical Sciences
 

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HLA HAPLOTYPES AND THE RISK OF SEVERE GLYCAEMIC ONSET IN NEWLY DIAGNOSED TYPE 1 DIABETIC PATIENTS FROM ROMANIA: A SINGLE-CENTRE PILOT COHORT STUDY

AMALIA-IOANA ARHIRE 1,2, SORIN IOACĂRĂ 1,2*, TEODORA PAPUC 2, MIRUNA SÂNZIANA CHIPER 2, IRINA MONICA DUȚESCU 3, ANA MOISE 3, IOANA BADEA 3, SUZANA FLOREA 4, SIMONA FICA 1,2

1“Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania
2 Department of Endocrinology, Diabetes, Nutrition and Metabolic diseases, Elias Hospital, 011461, Bucharest, Romania
3 HLA Laboratory, “C.T. Nicolau” National Institute of Blood Transfusion, 011154, Bucharest, Romania
4 The Immunology Laboratory, Elias Hospital, 011461, Bucharest, Romania

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As the prevalence of type 1 diabetes rises, with onset at a younger age, population-specific genetic determinants are needed. This study aims to determine the prevalence of HLA alleles in a Romanian population of type 1 diabetic patients and to assess risks associated with specific DR-DQ haplotypes. Thirty-six type 1 Romanian diabetic patients were typed using NGS high- resolution analysis for the HLA analysis. An association analysis was conducted comparing the frequency of protective and predisposing haplotypes with the disease onset. The most frequent predisposing alleles found were HLA-DR3, DQ2, DR3- DQ2, DQB1*02:01 (70.27%). The most frequent protective allele was DPB1*04:01 (52.63%). Early onset type 1 diabetes was associated with the absence of DQA1*01:03-DQB1*06:03-DRB1*13:01. The allele DR4-04:01/04:02/04:04/04:05/04:08 was found to be a mild risk factor for ketoacidosis. Most of the patients had the predisposing HLA-DR3-DQ2 and DR4-DQ8, but less frequent protective alleles compared to other populations. This is the first Romanian study that assesses the genetic determinants in type 1 diabetes and their correlation to a more severe onset.