ICAM-1 K469E gene polymorphism, genotype-phenotype correlation, and retinopathy in Type 2 diabetes mellitus patients.

IF 1 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2025-04-01 Epub Date: 2025-01-06 DOI:10.1080/13816810.2024.2447498

Sanjana B Singh, Sudha Ramalingam, Ramalingam Sankaran, Merlin Veronika, Jeevamala Mercy Janaki

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引用次数: 0

Abstract

Context: The role of genetic factors in the development of diabetic retinopathy is evident from the fact that only 50% of patients with the non-proliferative type of diabetic retinopathy progress to proliferative diabetic retinopathy. Though the K469E polymorphism of the ICAM-1 (Intercellular Adhesion Molecule-1) gene is known to increase the risk of developing Diabetic Retinopathy (DR) among Type 2 diabetic patients, its role in the development of severe DR has not been extensively studied.

Aim: Hence, we aimed to determine the risk due to association of K469E polymorphism of ICAM-1 gene and sight threatening diabetic retinopathy.

Methods: Two ml of blood collected from the patients was analyzed with PCR RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) to detect K469E (rs5498) polymorphism of the ICAM-1 gene.

Statistical analysis: Data were analyzed using IBM SPSS (Statistical Package for the Social Sciences) package, standard methods like Chi-square, T test, and multivariate logistic regression was used for comparing the variables.

Results: The frequencies of three different genotypes among the patients with STDR (Sight-threatening Diabetic Retinopathy) are 26.9% AA, 53.8% AG, and 19.3% GG. The risk of developing STDR increased among the GG genotype with raised HbA1C levels (OR = 1.960, 95% CI 1.076 to 3.570 and p = 0.028) and raised fasting blood sugar (OR = 1.016, 95% CI 1.000 to 1.034 and p = 0.056). AG genotype with extra-retinal ocular complications of diabetes showed a greater risk of developing STDR (OR = 5.143, 95% CI 1.388 to 19.052 and p = 0.014).

Conclusion: No association was observed between any of the genotypes of ICAM-1 K469E polymorphism and the development of STDR. GG genotype is associated with the development of STDR in the presence of elevated glycosylated hemoglobin levels and elevated fasting blood sugar levels. AG genotype with extra-retinal diabetic ocular complications has a greater chance of developing STDR. However, there was no difference between the three genotypes of ICAM-1 K469E polymorphism in predisposing to the development of STDR.

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ICAM-1 K469E基因多态性、基因型表型相关性与2型糖尿病患者视网膜病变的关系

背景：遗传因素在糖尿病视网膜病变发展中的作用是显而易见的，因为只有50%的非增生性糖尿病视网膜病变患者进展为增生性糖尿病视网膜病变。虽然已知ICAM-1（细胞间粘附分子-1）基因的K469E多态性可增加2型糖尿病患者发生糖尿病视网膜病变（DR）的风险，但其在严重DR发展中的作用尚未得到广泛研究。目的：因此，我们旨在确定ICAM-1基因K469E多态性与视力威胁型糖尿病视网膜病变的相关性。方法：采用PCR - RFLP （Polymerase Chain Reaction-Restriction Fragment Length Polymorphism，聚合酶链反应限制性片段长度多态性）检测患者2 ml血液中ICAM-1基因K469E （rs5498）多态性。统计分析：使用IBM SPSS （Statistical Package for the Social Sciences）软件包对数据进行分析，采用卡方检验、T检验、多元逻辑回归等标准方法进行变量比较。结果：三种不同基因型在STDR（视力威胁型糖尿病视网膜病变）患者中的发生率分别为：AA型26.9%、AG型53.8%、GG型19.3%，其中GG基因型HbA1C水平升高（OR = 1.960, 95% CI 1.076 ~ 3.570, p = 0.028）、空腹血糖升高（OR = 1.016, 95% CI 1.000 ~ 1.034, p = 0.056）会增加STDR的发生风险。AG基因型合并糖尿病视网膜外眼部并发症的患者发生STDR的风险更高（OR = 5.143, 95% CI 1.388 ~ 19.052, p = 0.014）。结论：ICAM-1 K469E基因型与STDR的发生均无相关性。在糖化血红蛋白水平升高和空腹血糖水平升高的情况下，GG基因型与STDR的发生有关。伴有视网膜外糖尿病性眼部并发症的AG基因型患者发生STDR的机会较大。然而，ICAM-1 K469E多态性在三种基因型之间对STDR的易感性没有差异。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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.