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rs9896052 多态性与糖尿病病程少于 10 年患者增生性糖尿病视网膜病变的相关性。

Association of the rs9896052 Polymorphism Upstream of with Proliferative Diabetic Retinopathy in Patients with Less than 10 Years of Diabetes.

机构信息

Laboratory of Human Molecular Genetics, Lutheran University of Brazil (ULBRA), Av. Farroupilha 8001, Canoas 92425-900, RS, Brazil.

Endocrine Division, Clinical Hospital of Porto Alegre (HCPA), R. Ramiro Barcelos 2350, Porto Alegre 90035-903, RS, Brazil.

出版信息

Int J Mol Sci. 2024 Sep 24;25(19):10232. doi: 10.3390/ijms251910232.

Abstract

Growth factor receptor-bound protein 2 (GRB2) is a negative regulator of insulin signaling and a positive regulator of angiogenesis. Its expression is increased in a mouse model of retinal neovascularization and in patients with type 2 diabetes mellitus (T2DM). This case-control study aimed to investigate the association between the rs9896052 polymorphism (A>C) upstream of and proliferative diabetic retinopathy (PDR) in patients with T2DM from Southern Brazil, taking into consideration self-reported skin color (white or non-white) and the known duration of diabetes (<10 years or ≥10 years). Genotypes were determined by real-time PCR in 838 patients with T2DM (284 cases with PDR and 554 controls without DR). In the total study group and in the analysis stratified by skin color, the genotype and allele frequencies were similar between cases and controls. However, among patients with less than 10 years of diabetes, the C allele was more frequent in cases than in controls (63.3% versus 51.8%, = 0.032), and the CC genotype was independently associated with an increased risk of PDR (adjusted OR = 2.82, 95% CI 1.17-6.75). In conclusion, our findings support the hypothesis that the rs9896052 polymorphism near is associated with PDR in Brazilian patients with T2DM.

摘要

生长因子受体结合蛋白 2(GRB2)是胰岛素信号的负调节剂和血管生成的正调节剂。它在视网膜新生血管形成的小鼠模型和 2 型糖尿病(T2DM)患者中表达增加。本病例对照研究旨在探讨巴西南部 T2DM 患者中 上游 rs9896052 多态性(A>C)与增殖性糖尿病视网膜病变(PDR)之间的关联,同时考虑到自我报告的肤色(白种人或非白种人)和已知的糖尿病病程(<10 年或≥10 年)。在 838 例 T2DM 患者(284 例 PDR 患者和 554 例无 DR 对照组)中通过实时 PCR 确定基因型。在总研究组和按肤色分层的分析中,病例组和对照组的基因型和等位基因频率相似。然而,在糖尿病病程<10 年的患者中,C 等位基因在病例组中比对照组更常见(63.3%对 51.8%,=0.032),CC 基因型与 PDR 的风险增加独立相关(调整后的 OR=2.82,95%CI1.17-6.75)。总之,我们的研究结果支持这样的假设,即 附近的 rs9896052 多态性与巴西 T2DM 患者的 PDR 相关。

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