Are vitamin D receptor gene rs731236, rs2228570 and NOS3 gene rs3138808 polymorphisms associated with diabetic retinopathy?

IF 1 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2025-10-01 Epub Date: 2025-05-04 DOI:10.1080/13816810.2025.2495947

Emre Taşkın, Mehmet Coşkun

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引用次数: 0

Abstract

Introduction: Despite efforts to date, little is known about the genetic background of diabetic retinopathy (DR). Pathogenesis of DR involves processes like inflammation, proliferation and angiogenesis that vitamin D receptor (VDR) and endothelial nitric oxide (NOS3) genes are involved. Investigation of associations between VDR gene rs731236, rs2228570 and NOS3 gene rs3138808 polymorphisms and diabetic retinopathy was aimed.

Methods: 260 participants were divided into three groups: controls (n = 83), non-proliferative diabetic retinopathy (NPDR) (n = 101) and proliferative diabetic retinopathy (PDR) (n = 46). PCR-RFLP assay was used for genotyping. Genotype and allele frequencies as well as basic characteristics were compared both between groups and intragroup.

Results: Mean FPG (p = 0.003), mean HbA1c (%) (p = 0.007) and mean HbA1c (p = 0.003) were significantly different between groups. Mean FPG of NPDR patients in rs731236 polymorphism was significantly different between genotypes under additive model (p = 0.018). Under dominant model, mean FPG of NPDR patients in rs731236 was significantly different between TT and TC+CC genotypes (p = 0.009). Under dominant model regarding rs2228570, mean BUN level of homozygous wild-type genotype was significantly higher than that of polymorphic allele carriers of NPDR group (p = 0.022). Regarding rs2228570 polymorphism, plasma creatine level of polymorphic genotypes was significantly lower than that of wild type genotype in control group (p = 0.040). Allele and genotype frequencies among groups were not significantly different (p > 0.05). Binary regression analysis didn't indicate any significant influence on having DR (p > 0.05, all).

Discussion: In the studied population, this study is the first to investigate and demonstrate that VDR gene polymorphisms rs731236 and rs2228570 and NOS3 gene polymorphism rs3138808 are not associated with diabetic retinopathy.

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维生素D受体基因rs731236、rs2228570和NOS3基因rs3138808多态性与糖尿病视网膜病变相关吗？

导读：尽管迄今为止做出了努力，但对糖尿病视网膜病变（DR）的遗传背景知之甚少。DR的发病机制涉及维生素D受体（VDR）和内皮型一氧化氮（NOS3）基因参与的炎症、增殖和血管生成等过程。目的探讨VDR基因rs731236、rs2228570和NOS3基因rs3138808多态性与糖尿病视网膜病变的关系。方法：260名受试者分为3组：对照组（n = 83）、非增殖性糖尿病视网膜病变组（n = 101）和增殖性糖尿病视网膜病变组（n = 46）。采用PCR-RFLP法进行基因分型。比较各组间和组内基因型、等位基因频率及基本性状。结果：两组间平均FPG （p = 0.003）、平均HbA1c (%) （p = 0.007）、平均HbA1c （p = 0.003）差异均有统计学意义。在加性模型下，rs731236多态性NPDR患者的平均FPG在基因型间差异有统计学意义（p = 0.018）。优势模型下，TT和TC+CC基因型rs731236 NPDR患者的平均FPG差异有统计学意义（p = 0.009）。在优势模型下，rs2228570纯合子野生型基因型的平均BUN水平显著高于NPDR组多态等位基因携带者（p = 0.022）。rs2228570多态性方面，多态基因型血浆肌酸水平显著低于野生型基因型对照组（p = 0.040）。各组间等位基因和基因型频率差异无统计学意义（p < 0.05）。二元回归分析未发现对DR有显著影响（p < 0.05）。讨论：在研究人群中，本研究首次调查并证明了VDR基因多态性rs731236和rs2228570以及NOS3基因多态性rs3138808与糖尿病视网膜病变无关。

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来源期刊

Ophthalmic Genetics 医学-眼科学

CiteScore

2.40

自引率

8.30%

发文量

126

审稿时长

>12 weeks

期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.