Jalal Mohammed M, Mir Rashid, Hamadi Abdullah, Altayar Malik A, Elfaki Imadeldin, Barnawi Jameel, Alkayyal Almohanad A, Amr Mouminah, Hadeel Jabali, Moawadh Mamdoh S, Alsaedi Basim S O, Alhelali Marwan H, Yousif Aadil
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk 71491, Saudi Arabia.
Prince Fahad Bin Sultan Chair for Biomedical Research, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk 71491, Saudi Arabia.
Life (Basel). 2023 May 17;13(5):1200. doi: 10.3390/life13051200.
Stroke is a key cerebrovascular disease and important cause of death and disability worldwide, including in the kingdom of Saudi Arabia (KSA). It has a large economic burden and serious socioeconomic impacts on patients, their families and the community. The incidence of ischemic stroke is probably increased by the interaction of GSTT1 and GSTM1 null genotypes with high blood pressure, diabetes and cigarette smoking. The roles of VWF, GSTs and TNF-alpha gene variations in the induction of stroke are still uncertain and require further examination. In the current study, we studied the associations of SNPs in the genes VWF, GSTs and TNF-alpha with stroke in the Saudi population. Genotyping was performed using the ARMS -PCR for TNF-alpha, AS-PCR for VWF and multiplex PCR for GSTs. The study included 210 study subjects: 100 stroke cases and 110 healthy controls. We obtained significant distributions of VWF rs61748511 T > C, TNF-alpha rs1800629 G > A and GST rs4025935 and rs71748309 genotypes between stroke cases and the healthy controls ( < 0.05). The results also indicated that the TNF-alpha A allele was associated with risk of stroke with odd ratio (OR) = 2.22 and risk ratio = RR 2.47, < 0.05. Similarly, the VWF-TC genotype and C allele were strongly linked with stroke with OR = 8.12 and RR 4.7, < 0.05. In addition, GSTT1 and GSTT1 null genotype was strongly associated with stroke predisposition with OR = 8.30 and RR = 2.25, < 0.0001. We conclude that there is a possible strong association between the VWF-T > C, TNF-alpha G > A, GSTT1 gene variants and ischemic stroke susceptibility in the Saudi population. However, future well-designed and large-scale case-control studies on protein-protein interactions and protein functional studies are required to verify these findings and examine the effects of these SNPs on these proteins.
中风是一种关键的脑血管疾病，也是全球范围内（包括沙特阿拉伯王国）死亡和残疾的重要原因。它给患者、其家庭和社区带来巨大的经济负担和严重的社会经济影响。缺血性中风的发病率可能因谷胱甘肽S-转移酶T1（GSTT1）和谷胱甘肽S-转移酶M1（GSTM1）缺失基因型与高血压、糖尿病和吸烟之间的相互作用而增加。血管性血友病因子（VWF）、谷胱甘肽S-转移酶（GSTs）和肿瘤坏死因子-α（TNF-α）基因变异在中风诱发中的作用仍不确定，需要进一步研究。在本研究中，我们研究了VWF、GSTs和TNF-α基因中的单核苷酸多态性（SNPs）与沙特人群中风的关联。使用针对TNF-α的扩增阻滞突变系统聚合酶链反应（ARMS-PCR）、针对VWF的等位基因特异性PCR（AS-PCR）和针对GSTs的多重PCR进行基因分型。该研究包括210名研究对象：100例中风病例和110名健康对照。我们在中风病例和健康对照之间获得了VWF rs61748511 T>C、TNF-α rs1800629 G>A以及GST rs4025935和rs71748309基因型的显著分布（P<0.05）。结果还表明，TNF-α A等位基因与中风风险相关，优势比（OR）=2.22，风险比=RR 2.47，P<0.05。同样，VWF-TC基因型和C等位基因与中风密切相关，OR=8.12，RR=4.7，P<0.05。此外，GSTT1和GSTT1缺失基因型与中风易感性密切相关，OR=8.30，RR=2.25，P<0.0001。我们得出结论，在沙特人群中，VWF-T>C、TNF-α G>A、GSTT1基因变异与缺血性中风易感性之间可能存在强关联。然而，未来需要设计良好的大规模病例对照研究来验证这些发现，并研究这些SNPs对这些蛋白质的影响。
