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.

HLA Human leukocyte antigen Retinopathy Type 1 diabetes

Journal

Diabetology & metabolic syndrome
ISSN: 1758-5996
Titre abrégé: Diabetol Metab Syndr
Pays: England
ID NLM: 101488958

Informations de publication

Date de publication:
06 Aug 2021
Historique:
received: 08 05 2021
accepted: 28 07 2021
entrez: 7 8 2021
pubmed: 8 8 2021
medline: 8 8 2021
Statut: epublish

Résumé

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. 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. 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). 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.

Sections du résumé

BACKGROUND 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 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 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 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.

Identifiants

pubmed: 34362434
doi: 10.1186/s13098-021-00702-y
pii: 10.1186/s13098-021-00702-y
pmc: PMC8344141
doi:

Types de publication

Journal Article

Langues

eng

Pagination

83

Subventions

Organisme : Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro
ID : E-26/110.170/2013
Organisme : Conselho Nacional de Desenvolvimento Científico e Tecnológico
ID : 563753/2010-2

Informations de copyright

© 2021. The Author(s).

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Auteurs

Deborah Conte Santos (DC)

Department of Internal Medicine, Diabetes Unit, Rio de Janeiro State University (UERJ), Boulevard 28 de Setembro, 77-3º andar, Vila Isabel, Rio de Janeiro, Rio de Janeiro, CEP 20551-030, Brazil. deborahconte@hotmail.com.

Luís Cristóvão Porto (LC)

Histocompatibility and Cryopreservation Laboratory (HLA), Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil.

Marcela Haas Pizarro (MH)

Department of Internal Medicine, Diabetes Unit, Rio de Janeiro State University (UERJ), Boulevard 28 de Setembro, 77-3º andar, Vila Isabel, Rio de Janeiro, Rio de Janeiro, CEP 20551-030, Brazil.

Laura Gomes Nunes de Melo (LGN)

Department of Ophthalmology, State University of Rio de Janeiro, Rio de Janeiro, Brazil.

Dayse A Silva (DA)

DNA Diagnostic Laboratory (LDD), Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil.

Romulo Vianna Oliveira (RV)

Histocompatibility and Cryopreservation Laboratory (HLA), Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil.

Anna Paula Villela (AP)

Histocompatibility and Cryopreservation Laboratory (HLA), Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil.

Luiza Harcar Muniz (LH)

Department of Internal Medicine, Diabetes Unit, Rio de Janeiro State University (UERJ), Boulevard 28 de Setembro, 77-3º andar, Vila Isabel, Rio de Janeiro, Rio de Janeiro, CEP 20551-030, Brazil.

Camila Soares (C)

Department of Internal Medicine, Diabetes Unit, Rio de Janeiro State University (UERJ), Boulevard 28 de Setembro, 77-3º andar, Vila Isabel, Rio de Janeiro, Rio de Janeiro, CEP 20551-030, Brazil.

Lucianne Righeti Monteiro Tannus (LRM)

Department of Internal Medicine, Diabetes Unit, Rio de Janeiro State University (UERJ), Boulevard 28 de Setembro, 77-3º andar, Vila Isabel, Rio de Janeiro, Rio de Janeiro, CEP 20551-030, Brazil.

Karla Rezende Guerra Drummond (KRG)

Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil.

André Araújo Pinheiro (AA)

Department of Ophthalmology, Regional Hospital of Taguatinga, Brasília, Brazil.

Felipe Mallmann (F)

Department of Ophthalmology, Federal University of Rio Grande Do Sul, Porto Alegre, Brazil.

Franz Schubert Lopes Leal (FSL)

Department of Ophthalmology, University of Campinas, Campinas, São Paulo, Brazil.

Fernando Korn Malerbi (FK)

Department of Endocrinology and Ophthalmology, Federal University of São Paulo, São Paulo, Brazil.

Paulo Henrique Morales (PH)

Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil.

Marília Brito Gomes (MB)

Department of Internal Medicine, Diabetes Unit, Rio de Janeiro State University (UERJ), Boulevard 28 de Setembro, 77-3º andar, Vila Isabel, Rio de Janeiro, Rio de Janeiro, CEP 20551-030, Brazil.

Classifications MeSH