转化生长因子β1（TGFB1）基因的rs1800469 T/T和rs1800470 C/C基因型对巴西南部人群的糖尿病视网膜病变具有保护作用。

The rs1800469 T/T and rs1800470 C/C genotypes of the TGFB1 gene confer protection against diabetic retinopathy in a Southern Brazilian population.

作者信息

Costa Aline Rodrigues, Dieter Cristine, Canani Luís Henrique, Assmann Taís Silveira, Crispim Daisy

机构信息

Hospital de Clínicas de Porto Alegre, Serviço de Endocrinologia e Metabologia, Porto Alegre, RS, Brazil.

Universidade Federal do Rio Grande do Sul, Faculdade de Medicina, Departamento de Medicina Interna, Programa de Pós-Graduação em Ciências Médicas: Endocrinologia, Porto Alegre, RS, Brazil.

出版信息

Genet Mol Biol. 2023 Jul 7;46(3):e20220247. doi: 10.1590/1678-4685-GMB-2022-0247. eCollection 2023.

DOI:10.1590/1678-4685-GMB-2022-0247

PMID:37418683

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10328150/

Abstract

The transforming growth factor beta 1 (TGFB1) is a pro-inflammatory cytokine that plays a key role in the mechanisms of angiogenesis and breakdown of the blood-retina barrier, which are implicated in the pathogenesis of diabetic retinopathy (DR). Polymorphisms in the TGFB1 gene have been associated with DR; however, results are still contradictory. Therefore, the aim of this study was to investigate the potential association between two TGFB1 polymorphisms and DR. This study included 992 patients with diabetes mellitus (DM): 546 patients with DR (cases) and 446 patients without DR and with ≥10 years of DM (controls). The TGFB1 rs1800469 and rs1800470 polymorphisms were genotyped by real-time PCR. Frequency of rs1800469 T/T genotype was higher in controls compared to DR cases (18.3% vs. 12.7%, P= 0.022). This genotype remained associated with protection for DR, adjusting for covariables (OR= 0.604; 95% CI 0.395 - 0.923; P= 0.020, recessive model). The rs1800470 C/C genotype was observed in 25.4% of the controls and 18.0% of the cases (P= 0.015); thus, being associated with protection against DR under the recessive model (OR= 0.589; 95% CI 0.405 - 0.857; P= 0.006), adjusting for covariables. In conclusion, the TGFB1 rs1800469 and rs1800470 polymorphisms are associated with protection against DR in DM patients from Southern Brazil.

摘要

转化生长因子β1（TGFB1）是一种促炎细胞因子，在血管生成和血视网膜屏障破坏机制中起关键作用，而这些机制与糖尿病视网膜病变（DR）的发病机制有关。TGFB1基因多态性与DR相关；然而，结果仍存在矛盾。因此，本研究的目的是调查两种TGFB1多态性与DR之间的潜在关联。本研究纳入了992例糖尿病（DM）患者：546例DR患者（病例组）和446例无DR且DM病程≥10年的患者（对照组）。通过实时PCR对TGFB1 rs1800469和rs1800470多态性进行基因分型。与DR病例组相比，对照组中rs1800469 T/T基因型的频率更高（18.3%对12.7%，P = 0.022）。在调整协变量后，该基因型仍与DR的保护作用相关（OR = 0.604；95%CI 0.395 - 0.923；P = 0.020，隐性模型）。在25.4%的对照组和18.0%的病例组中观察到rs1800470 C/C基因型（P = 0.015）；因此，在隐性模型下与DR的保护作用相关（OR = 0.589；95%CI 0.405 - 0.857；P = 0.006），调整协变量。总之，TGFB1 rs1800469和rs1800470多态性与巴西南部DM患者DR的保护作用相关。