SOD2 单核苷酸多态性与 2 型糖尿病患者糖尿病肾病易感性的关联：沙特人群研究。
Association of a single nucleotide polymorphism in SOD2 with susceptibility for the development of diabetic nephropathy in patients with type 2 diabetes: A Saudi population study.
机构信息
Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
King Abdulaziz Medical City, National Guard Hospital, Jeddah, Saudi Arabia.
出版信息
Endocrinol Diabetes Metab. 2023 Nov;6(6):e449. doi: 10.1002/edm2.449. Epub 2023 Sep 12.
INTRODUCTION
One of the complications of diabetes mellitus (DM) is diabetic nephropathy (DN), which plays a significant role in the progression of end-stage renal disease. Oxidative stress is implicated in DN pathogenesis, and genetic variations in antioxidant enzymes such as superoxide dismutase 2 (SOD2) and catalase (CAT) may contribute to the susceptibility. This study aimed to investigate the potential association between single nucleotide polymorphisms (SNPs) in antioxidant enzymes, specifically SOD2 rs4880 and CAT rs769217, and the risk of T2D and susceptibility to DN within the Saudi population.
METHODS
This case-control study included 150 participants, comprising 50 patients with T2D without DN (group 1), 50 patients with T2D with DN (group 2), and 50 healthy participants (group 3). The samples were genotyped using real-time PCR for SOD2 rs4880 and CAT rs769217 SNPs. Sanger sequencing was used for validation. Statistical analyses were performed to explore associations between these SNPs and T2D with or without DN.
RESULTS
No significant difference was observed in CAT rs769217 expression between the groups. However, a significant difference was observed in SOD2 rs4880 expression between the healthy controls and patients with T2D with DN (p = .028). Furthermore, SOD2 rs4880 was associated with approximately threefold increased risk of DN in patients with T2D compared to that in healthy participants (odds ratio [OR] = 2.99 [1.31-6.83]). Validation through Sanger sequencing further confirmed these findings.
CONCLUSIONS
The findings of this study provide evidence that SOD2 rs4880 SNP may contribute to inadequate defence by the antioxidant enzyme, SOD2, against DM-induced oxidative stress and thus cause DN in Saudi patients with T2D. Therefore, SOD2 rs4880 may serve as a predictive marker to prevent the development and progression of DN in patients with T2D.
介绍
糖尿病（DM）的并发症之一是糖尿病肾病（DN），它在终末期肾病的进展中起着重要作用。氧化应激与 DN 的发病机制有关，抗氧化酶如超氧化物歧化酶 2（SOD2）和过氧化氢酶（CAT）的遗传变异可能导致易感性。本研究旨在探讨抗氧化酶单核苷酸多态性（SNP），特别是 SOD2 rs4880 和 CAT rs769217，与沙特人群 2 型糖尿病（T2D）风险和 DN 易感性之间的潜在关联。
方法
本病例对照研究纳入了 150 名参与者，包括 50 名无 DN 的 T2D 患者（第 1 组）、50 名有 DN 的 T2D 患者（第 2 组）和 50 名健康参与者（第 3 组）。使用实时 PCR 对 SOD2 rs4880 和 CAT rs769217 SNP 进行基因分型。使用 Sanger 测序进行验证。对这些 SNP 与有或无 DN 的 T2D 之间的关联进行统计分析。
结果
各组之间 CAT rs769217 的表达无显著差异。然而，健康对照组和有 DN 的 T2D 患者之间 SOD2 rs4880 的表达存在显著差异（p=0.028）。此外，与健康参与者相比，SOD2 rs4880 使 T2D 患者发生 DN 的风险增加约三倍（比值比[OR]为 2.99[1.31-6.83]）。Sanger 测序的验证进一步证实了这些发现。
结论
本研究结果表明，SOD2 rs4880 SNP 可能导致抗氧化酶 SOD2 对 DM 诱导的氧化应激的防御不足，从而导致沙特 T2D 患者发生 DN。因此，SOD2 rs4880 可作为预测标志物，预防 T2D 患者 DN 的发生和进展。
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