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. 2021 Aug 6;13(1):83.
doi: 10.1186/s13098-021-00702-y.

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

Deborah Conte Santos  1 , Luís Cristóvão Porto  2 , Marcela Haas Pizarro  3 , Laura Gomes Nunes de Melo  4 , Dayse A Silva  5 , Romulo Vianna Oliveira  2 , Anna Paula Villela  2 , Luiza Harcar Muniz  3 , Camila Soares  3 , Lucianne Righeti Monteiro Tannus  3 , Karla Rezende Guerra Drummond  6 , André Araújo Pinheiro  7 , Felipe Mallmann  8 , Franz Schubert Lopes Leal  9 , Fernando Korn Malerbi  10 , Paulo Henrique Morales  6 , Marília Brito Gomes  3
Affiliations

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

Deborah Conte Santos et al. Diabetol Metab Syndr. .

Abstract

Background: Although 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.

Methods: This 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.

Results: Haplotypes 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).

Conclusions: Our 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.

Keywords: HLA; Human leukocyte antigen; Retinopathy; Type 1 diabetes.

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Conflict of interest statement

The authors declare that they have no competing interests.

References

    1. Redondo MJ, Steck AK, Pugliese A. Genetics of type 1 diabetes. Pediatr Diabetes. 2018;19:346–353. doi: 10.1111/pedi.12597. - DOI - PMC - PubMed
    1. Cudworth AG, Woodrow JC. HL-A antigens and diabetes mellitus. Lancet. 1974;304:1153. doi: 10.1016/S0140-6736(74)90930-1. - DOI - PubMed
    1. Esteves JF, Kramer CK, Azevedo MJD, Stolz AP, Roggia MF, Larangeira A, et al. Prevalence of diabetic retinopathy in patients with type 1 diabetes mellitus. Rev Assoc Méd Bras. 2009;55:268–73. doi: 10.1590/S0104-42302009000300017. - DOI - PubMed
    1. Leasher JL, Bourne RRA, Flaxman SR, Jonas JB, Keeffe J, Naidoo K, et al. Global estimates on the number of people blind or visually impaired by diabetic retinopathy: a meta-analysis from 1990 to 2010. Diabetes Care. 2016;39:1643–1649. doi: 10.2337/dc15-2171. - DOI - PubMed
    1. Nathan DM. The diabetes control and complications trial/epidemiology of diabetes interventions and complications study at 30 years: overview. Diabetes Care. 2014;37:9–16. doi: 10.2337/dc13-2112. - DOI - PMC - PubMed