ELMO1基因rs741301多态性的C等位基因与2型糖尿病患者糖尿病视网膜病变的风险增加有关。

IF 1.6 4区医学 Q4 ENDOCRINOLOGY & METABOLISM

Archives of Endocrinology Metabolism Pub Date : 2025-04-11 DOI:10.20945/2359-4292-2024-0283

Luciane Moretto, Letícia de Almeida Brondani, Eliandra Girardi, Anna Carolina Meireles Vieira, Natália Emerim Lemos, Marilu Fiegenbaum, Luís Henrique Canani, Daisy Crispim, Cristine Dieter

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引用次数: 0

摘要

目的：探讨ELMO1基因rs741301多态性与2型糖尿病（T2DM）患者糖尿病视网膜病变（DR）的关系。材料和方法：本研究分析了350例t2dm合并DR患者（病例）和234例无此并发症但糖尿病10年以上的t2dm患者（对照组）。通过间接眼底镜检查诊断DR。采用等位基因识别实时PCR进行基因分型。结果：ELMO1基因rs741301多态性的C/C基因型在病例和对照组中分别为26.9%和17.9% （P = 0.011）。调整协变量后，C/C基因型与DR风险增加相关[比值比(OR) = 1.805, 95%CI 1.101-2.961；P = 0.019]。在对相同变量进行调整后，这种关联在显性遗传模型和加性遗传模型中仍然显著[OR = 1.597, 95%CI 1.089-2.343；P = 0.017；OR = 1.818, 95%CI 1.099 ~ 3.007；P = 0.020]。结论：本研究表明，巴西南部T2DM患者ELMO1 rs741301多态性C等位基因的存在与DR风险增加之间存在关联。

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The C allele of the rs741301 polymorphism in the ELMO1 gene is associated with increased risk of diabetic retinopathy in patients with type 2 diabetes mellitus.

Objective: To investigate the association of the rs741301 polymorphism in the ELMO1 gene with diabetic retinopathy (DR) in patients with type 2 diabetes mellitus (T2DM).

Materials and methods: This study analyzed 350 patients withT2DM and DR (cases) and 234 patients withT2DM without this complication but with more than 10 years of diabetes mellitus (DM) (controls). DR was diagnosed by indirect fundoscopy. Genotyping was performed by allelic discrimination real-time PCR.

Results: The frequency of the C/C genotype of the rs741301 polymorphism in the ELMO1 gene was 26.9% in cases and 17.9% in controls (P = 0.011). After adjustment for covariables, the C/C genotype was associated with an increased risk of DR [odds ratio (OR) = 1.805, 95%CI 1.101-2.961; P = 0.019]. This association remained significant in dominant and additive inheritance models after adjustment for the same variables [OR = 1.597, 95%CI 1.089-2.343; P = 0.017; and OR = 1.818, 95%CI 1.099-3.007; P = 0.020].

Conclusion: This study demonstrated an association between the presence of the C allele of the ELMO1 rs741301 polymorphism and an increased risk of DR in patients with T2DM from Southern Brazil.

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来源期刊

Archives of Endocrinology Metabolism Medicine-Endocrinology, Diabetes and Metabolism

CiteScore

2.90

自引率

5.90%

发文量

107

审稿时长

7 weeks

期刊介绍： The Archives of Endocrinology and Metabolism - AE&M – is the official journal of the Brazilian Society of Endocrinology and Metabolism - SBEM, which is affiliated with the Brazilian Medical Association. Edited since 1951, the AE&M aims at publishing articles on scientific themes in the basic translational and clinical area of Endocrinology and Metabolism. The printed version AE&M is published in 6 issues/year. The full electronic issue is open access in the SciELO - Scientific Electronic Library Online e at the AE&M site: www.aem-sbem.com. From volume 59 on, the name was changed to Archives of Endocrinology and Metabolism, and it became mandatory for manuscripts to be submitted in English for the online issue. However, for the printed issue it is still optional for the articles to be sent in English or Portuguese. The journal is published six times a year, with one issue every two months.