Deborah Conte Santos1, Laura Gomes Nunes de Melo2, Marcela Haas Pizarro3, Bianca S V Barros3, Carlos Antonio Negrato4, Luís Cristóvão Porto5, Dayse A Silva6, Karla Rezende Guerra Drummond7, Luiza Harcar Muniz3, Tessa Cerqueria Lemos Mattos8, André Araújo Pinheiro9, Felipe Mallmann10, Franz Schubert Lopes Leal11, Fernando Korn Malerbi12, Paulo Henrique Morales13, 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. Department of Ophthalmology, State University of 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. University of São Paulo, Bauru, Brazil. 5. Histocompatibility and Cryopreservation Laboratory (HLA), Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil. 6. DNA Diagnostic Laboratory (LDD), Rio de Janeiro State University (UERJ), Rio de Janeiro, Rio de Janeiro, Brazil. 7. Department of Ophthalmology, Federal Hospital of the Servers of Rio de Janeiro, Rio de Janeiro, Brazil. 8. Department of Ophthalmology, Center of Endocrinology and Diabetes of the State of Bahia, Salvador, Brazil. 9. Department of Ophthalmology, Regional Hospital of Taguatinga, Brasília, Brazil. 10. Department of Ophthalmology, Federal University of Rio Grande Do Sul, Porto Alegre, Brazil. 11. Department of Ophthalmology, University of Campinas, Campinas, São Paulo, Brazil. 12. Department of Endocrinology and Ophthalmology, Federal University of São Paulo, São Paulo, Brazil. 13. Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil.
Abstract
AIMS: The influence of genetic factors on the development and progression of diabetic retinopathy is still unclear. Previous studies showed controversial results. We aimed to characterize the relationship between genomic ancestry and self-reported color/race with severe diabetic retinopathy in patients with type 1 diabetes belonging to a highly admixed population. METHODS: This study was a nested case-control based on data collected from a large cross-sectional, nationwide survey conducted in clinics from all five geographic regions of Brazil. For the present study, we included 414 individuals. Cases (n = 176) were considered if they had severe non-proliferative or proliferative diabetic retinopathy, and controls (n = 238) were type 1 diabetes patients without retinopathy, matched for diabetes duration by a range of 5 years. Indirect ophthalmoscopy was performed, and individual genomic ancestry was inferred using a panel of 46 ancestry informative markers. RESULTS: The backward stepwise logistic regression analysis showed that African genomic ancestry (OR 3.9, p = 0.045), HbA1c (OR 1.24, p = 0.001), glomerular filtration rate (OR 0.98, p < 0.001) and hypertension (OR 2.52, p < 0.001) were associated with severe diabetic retinopathy after adjusting for clinical and demographic data. Self-reported color/race was not statistically associated with diabetic retinopathy. CONCLUSIONS: Genomic ancestry, as well as clinical variables such as hypertension, impaired glomerular filtration rate and poor diabetes control (HbA1c), was important risk factor for the development of severe diabetic retinopathy. Further studies are needed, especially in highly admixed populations, to better understand the role of genomic ancestry and possible genes that might be associated with the development and/or progression of diabetic retinopathy.
AIMS: The influence of genetic factors on the development and progression of diabetic retinopathy is still unclear. Previous studies showed controversial results. We aimed to characterize the relationship between genomic ancestry and self-reported color/race with severe diabetic retinopathy in patients with type 1 diabetes belonging to a highly admixed population. METHODS: This study was a nested case-control based on data collected from a large cross-sectional, nationwide survey conducted in clinics from all five geographic regions of Brazil. For the present study, we included 414 individuals. Cases (n = 176) were considered if they had severe non-proliferative or proliferative diabetic retinopathy, and controls (n = 238) were type 1 diabetespatients without retinopathy, matched for diabetes duration by a range of 5 years. Indirect ophthalmoscopy was performed, and individual genomic ancestry was inferred using a panel of 46 ancestry informative markers. RESULTS: The backward stepwise logistic regression analysis showed that African genomic ancestry (OR 3.9, p = 0.045), HbA1c (OR 1.24, p = 0.001), glomerular filtration rate (OR 0.98, p < 0.001) and hypertension (OR 2.52, p < 0.001) were associated with severe diabetic retinopathy after adjusting for clinical and demographic data. Self-reported color/race was not statistically associated with diabetic retinopathy. CONCLUSIONS: Genomic ancestry, as well as clinical variables such as hypertension, impaired glomerular filtration rate and poor diabetes control (HbA1c), was important risk factor for the development of severe diabetic retinopathy. Further studies are needed, especially in highly admixed populations, to better understand the role of genomic ancestry and possible genes that might be associated with the development and/or progression of diabetic retinopathy.
Entities:
Keywords:
Ethnicity; Genomic ancestry; Retinopathy; Type 1 diabetes
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