Human Leukocyte Antigens class II (HLA II) gene profile from an admixed population of patients with type 1 diabetes with severe diabetic retinopathy: a nested case-control study in Brazil

Diabetology & Metabolic Syndrome

Dayse A. Silva¹  Fernando Korn Malerbi²  Camila Soares³  Luiza Harcar Muniz³  Deborah Conte Santos³  Marília Brito Gomes³  Marcela Haas Pizarro³  Lucianne Righeti Monteiro Tannus³  Felipe Mallmann⁴  Paulo Henrique Morales⁵  Karla Rezende Guerra Drummond⁵  André Araújo Pinheiro⁶  Laura Gomes Nunes de Melo⁷  Franz Schubert Lopes Leal⁸  Luís Cristóvão Porto⁹  Romulo Vianna Oliveira⁹  Anna Paula Villela⁹ 

[1] DNA Diagnostic Laboratory (LDD), Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil;Department of Endocrinology and Ophthalmology, Federal University of São Paulo, São Paulo, Brazil;Department of Internal Medicine, Diabetes Unit, Rio de Janeiro State University (UERJ), Boulevard 28 de Setembro, 77-3º andar, Vila Isabel, CEP 20551-030, Rio de Janeiro, Rio de Janeiro, Brazil;Department of Ophthalmology, Federal University of Rio Grande Do Sul, Porto Alegre, Brazil;Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil;Department of Ophthalmology, Regional Hospital of Taguatinga, Brasília, Brazil;Department of Ophthalmology, State University of Rio de Janeiro, Rio de Janeiro, Brazil;Department of Ophthalmology, University of Campinas, Campinas, São Paulo, Brazil;Histocompatibility and Cryopreservation Laboratory (HLA), Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil;

关键词: Type 1 diabetes;    Retinopathy;    HLA;    Human leukocyte antigen;   

DOI  :  10.1186/s13098-021-00702-y

来源: Springer

【 摘 要 】

BackgroundAlthough the well-established role of the HLA genes on the predisposition of type 1 diabetes (T1D), its contribution to the development and progression of diabetic retinopathy is still unclear, especially in admixed populations. We aimed to study the relationship between HLA alleles and severe diabetic retinopathy in a highly admixed population of T1D patients.MethodsThis was a nested case-control study based on a cross-sectional, nationwide survey conducted in Brazil. We included 117 patients with severe diabetic retinopathy and 117 random controls composed of T1D patients without retinopathy, matched for diabetes duration. HLA-class II genes (HLA-DRB1, -DQA1, and -DQB1) were genotyped using the SSO and NGS methods.ResultsHaplotypes HLA-DRB1*04:05 ~ DQA1*03:01 g ~ DQB1*03:02 (OR 1.75, CI 0.97–3.16, p value 0.058) and HLA-DRB1*13:02 ~ DQA1*01:02 ~ DQB1*06:04 (OR 5.18, CI 1.12–23.09, p value 0.019) were more prevalent on the severe DR group but they did not present statistically difference after Bonferroni correction. The most frequent haplotype on both groups was HLA-DRB1*03:01 ~ DQA1*05:01 g ~ DQB1*02:01 (29.6% on severe DR and 33.33% on the control group).ConclusionsOur study showed no influence of HLA genes on the development of DR. Further longitudinal data is needed to better understand the role of genetic factors on this multifactorial significant microvascular complication.

【 授权许可】

CC BY