rs1800624和rs80096349 SNP与糖尿病视网膜病变的关系:一项试验研究。

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY Ophthalmic Genetics Pub Date : 2024-11-13 DOI:10.1080/13816810.2024.2428783
Haider Ali Alnaji, Aizhar H Hasan, Rabab Omran, Mohammed Qasim Al Nuwaini
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引用次数: 0

摘要

背景:糖尿病视网膜病变(DR)是可能损害视力的疾病之一,对于长期患有糖尿病且血糖控制不佳的患者来说,DR 可能会缓慢而稳定地发生。.目的建立位于 AGER 基因中的 rs1800624 SNP 和 rs80096349 SNP 的不同基因型与 DR 患者之间的联系。.方法:目前的病例对照研究调查了 134 名确诊为 2 型糖尿病的患者和 36 名未患糖尿病的健康人。这些样本来自伊拉克纳杰夫的一家私立医院 Amir Al-Muminin。利用四引物 ARMS-PCR 方法确定 AGER 基因 rs1800624 SNP 的基因型:结果:发现患者的基因型(AA、AG 和 GG)与 DR 亚组(NPDR 和 PDR)之间存在明显关联(p = 0.001)。rs1800624 SNP 的 AG 基因型与 NPDR 的发病风险降低有关(对照组和 NPDR 之间的 OR = 0.30;95% CI = 0.12-0.74;p = 0.009;NDR 和 NPDR 之间的 OR = 0.36;95% CI = 0.14-0.90;p = 0.029)。HRM 分析证实样本中只存在两种基因型:野生型(GG)和杂合突变型(GA)。然而,在比较 DR 状态与对照组和 NDR 时,观察到基因型之间存在明显关联(p = 0.031):结论:AGER 基因的 rs1800624 SNP 与 T2DM 患者罹患 NPDR 和 PDR 的风险有关,而 rs80096349 的多态性可能与伊拉克人群的视网膜病变有关。
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Association between the rs1800624 and rs80096349 SNPs and diabetic retinopathy: a pilot study.

Background: One of the conditions that might harm your eyesight is diabetic retinopathy (DR), DR may set in slowly but surely for those with long-term diabetes and poor glucose control. ‎.

Objective: To establish a connection between the various genotypes of the rs1800624 SNP and the rs80096349 SNP located in the AGER gene and DR patients. ‎.

Methods: The current case-control research examined one hundred thirty-four individuals diagnosed with type 2 diabetes and thirty-six healthy individuals who did not have DM. These samples were obtained from Amir Al-Muminin, a private hospital in Najaf, Iraq. The tetra primers ARMS-PCR method was utilized to determine the genotype of rs1800624 SNP of the AGER gene.

Results: A significant association was found between genotypes (AA, AG, and GG) and DR subgroups (NPDR & PDR) in patients (p = 0.001). The AG genotype of rs1800624 SNP is associated with a lowering the risk of developing NPDR (OR = 0.30; 95% CI = 0.12-0.74; p = 0.009 between controls and NPDR, OR = 0.36; 95% CI = 0.14-0.90; p = 0.029 between NDR and NPDR). HRM analysis verified the presence of only two genotypes in the samples: wild type (GG) and a heterozygous mutant (GA). However, a significant association between genotypes was observed when comparing DR status with controls and NDR (p = 0.031).

Conclusion: The rs1800624 SNP of the AGER gene is associated with the risk of NPDR and PDR in T2DM, and the polymorphism of the rs80096349 may be associated with retinopathy in the Iraqi population.

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来源期刊
Ophthalmic Genetics
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.
期刊最新文献
Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report. Stem cell-based therapies for retinal diseases: focus on clinical trials and future prospects. Association between the rs1800624 and rs80096349 SNPs and diabetic retinopathy: a pilot study. Bilateral cataracts in a three-year-old with deficiency of adenosine deaminase 2 (DADA2), hyperferritinemia, and prolonged steroid use. Clinical and genetic characteristics of simple central serous chorioretinopathy according to age.
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