Deborah Conte Santos1, Luís Cristóvão Porto2, Marcela Haas Pizarro3, Laura Gomes Nunes de Melo4, Dayse A Silva5, Romulo Vianna Oliveira2, Anna Paula Villela2, Luiza Harcar Muniz3, Camila Soares3, Lucianne Righeti Monteiro Tannus3, Karla Rezende Guerra Drummond6, André Araújo Pinheiro7, Felipe Mallmann8, Franz Schubert Lopes Leal9, Fernando Korn Malerbi10, Paulo Henrique Morales6, Marília Brito Gomes3. 1. 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. 2. Histocompatibility and Cryopreservation Laboratory (HLA), Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil. 3. 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. 4. Department of Ophthalmology, State University of Rio de Janeiro, Rio de Janeiro, Brazil. 5. DNA Diagnostic Laboratory (LDD), Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil. 6. Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil. 7. Department of Ophthalmology, Regional Hospital of Taguatinga, Brasília, Brazil. 8. Department of Ophthalmology, Federal University of Rio Grande Do Sul, Porto Alegre, Brazil. 9. Department of Ophthalmology, University of Campinas, Campinas, São Paulo, Brazil. 10. Department of Endocrinology and Ophthalmology, Federal University of São Paulo, São Paulo, Brazil.
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.
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.
Authors: Bàrbara Roig; Marta Rodríguez-Balada; Sara Samino; Eric W-F Lam; Sandra Guaita-Esteruelas; Ana R Gomes; Xavier Correig; Joan Borràs; Oscar Yanes; Josep Gumà Journal: Sci Rep Date: 2017-12-19 Impact factor: 4.379
Authors: Ettie M Lipner; Yaron Tomer; Janelle A Noble; Maria C Monti; John T Lonsdale; Barbara Corso; David A Greenberg Journal: J Diabetes Res Date: 2015-10-11 Impact factor: 4.011