Huang Guoni, Cheng Jing, Liu Wenfeng, Yang Tong, Ye Tao, Zhang Qian, Chen Qi, Xu Yuzhong
Department of Laboratory Medicine, People's Hospital of Shenzhen Baoan District, Shenzhen, P. R. China.
State Key Laboratory of Respiratory Disease, Guangdong Provincial Key Laboratory of Protein Modification and Degradation, School of Basic Medical Sciences, Guangzhou Medical University, Guangzhou, P. R. China.
PLoS One. 2025 Jan 27;20(1):e0318134. doi: 10.1371/journal.pone.0318134. eCollection 2025.
This case-control study aims to clarify the impact of single nucleotide polymorphisms (SNPs) within the P2X7 gene on susceptibility to type 2 diabetes mellitus (T2DM) and to evaluate their association with diabetic complications.
This study is comprised with 200 T2DM cases and 200 healthy controls. Seven candidate SNP loci were screened, and TaqMan-MGB real-time PCR technology was used to determine the polymorphic variants of P2X7. Different genotype and allele frequencies were compared by Pearson's χ2 tests and logistic regression analysis.
Three P2X7 SNPs were found to be associated with T2DM risk. Specifically, rs7958311 GA (OR = 1.323, p = 0.002), rs7958311 AA (OR = 1.508, p = 0.038), rs208294 CC (OR = 1.854, p = 0.042) showed a higher susceptibility to T2DM, whilst rs11065464 CA (OR = 0.614, p = 0.022) was associated with a reduced risk. Logistic regression analysis indicated that rs7958311 was linked to an increased risk for nephropathy (OR = 1.833, p = 0.022), but with a decreased risk for peripheral artery disease (OR = 0.550, p = 0.042). Additionally, rs208294 was identified as a risk factor for peripheral neuropathy (OR = 2.101, p = 0.016).
We found that P2X7 polymorphisms are significantly associated with the risk of T2DM and its complications, suggesting that targeting P2X7 may offer a novel therapeutic strategy for the prevention and personal treatment of T2DM.
本病例对照研究旨在阐明P2X7基因内单核苷酸多态性(SNP)对2型糖尿病(T2DM)易感性的影响,并评估其与糖尿病并发症的关联。
本研究包括200例T2DM患者和200名健康对照。筛选了7个候选SNP位点,采用TaqMan-MGB实时荧光定量PCR技术检测P2X7的多态性变异。通过Pearson卡方检验和逻辑回归分析比较不同基因型和等位基因频率。
发现3个P2X7 SNP与T2DM风险相关。具体而言,rs7958311 GA(OR = 1.323,p = 0.002)、rs7958311 AA(OR = 1.508,p = 0.038)、rs208294 CC(OR = 1.854,p = 0.042)显示出对T2DM更高的易感性,而rs11065464 CA(OR = 0.614,p = 0.022)与降低风险相关。逻辑回归分析表明,rs7958311与肾病风险增加相关(OR = 1.833,p = 0.022),但与外周动脉疾病风险降低相关(OR = 0.550,p = 0.042)。此外,rs208294被确定为外周神经病变的危险因素(OR = 2.101,p = 0.016)。
我们发现P2X7多态性与T2DM及其并发症的风险显著相关,这表明靶向P2X7可能为T2DM的预防和个体化治疗提供一种新的治疗策略。