Association of genotypes at single-nucleotide polymorphisms in IL-28B, TGF-β1, TP53, MTHFR and GSTP1 gene and their combinations with ischemic stroke: A case-control study

IF 2.9 Q3 NEUROSCIENCES

IBRO Neuroscience Reports Pub Date : 2025-12-01 Epub Date: 2025-11-05 DOI:10.1016/j.ibneur.2025.11.005

Saba Shakoor , Muhammad Latif , Kam-Hong Kam , Ayesha Nasir , Rashid Mehmood , Mehnaz Akhtar , Maryam Akhlaq , Alisha Batool , Meesam Ali , Kasim Sakran Abass , Burhan Pasha , Adil Khan , Chien-Chin Chen , Furhan Iqbal

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Abstract

Objective

Ischemic stroke is a complex pathological condition in which the brain is damaged due to blockage of blood vessel(s) supplying blood to the brain. This study investigates the genotype and allelic frequency at the single-nucleotide polymorphism (SNP) rs8099917 in IL-28B, rs1800470 and rs1800472 in TGF-β1, rs1042522 in TP53, rs180133 in MTHFR and rs1695 in GSTP1 gene and correlates them individually or in various combinations with the incidence of ischemic stroke.

Methods

A total of 156 clinically confirmed ischemic stroke patients and 156 age and sex matched controls were enrolled from Multan District in Pakistan during September 2024 till February 2025. Tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS PCR) approach was used to determine the genotype at the screened SNPs.

Results

Significant associations of polymorphic TT genotype at rs8099917 in IL-28B, wildtype CC genotype at rs1800472 in TGF-β1, polymorphic TT and heterozygous CT genotypes at rs1800472 in TGF-β1, wild genotype GG at rs8099917 in IL-28B, polymorphic CC at rs1042522 in TP53 and wild genotype CC at rs180133 in MTHFR gene were observed with ischemic stroke. Smokers were more prone to the disease. While genotypes at rs1800470 in TGF-β1 and at rs1695 in GSTP1 as well as age and sex of the subject were not associated with the incidence of ischemic stroke.

Conclusion

Our results indicated that genotypes at the analyzed SNPs were associated with ischemic stroke in the screened Pakistani population.

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IL-28B、TGF-β1、TP53、MTHFR和GSTP1基因单核苷酸多态性基因型及其联合与缺血性脑卒中的关系：一项病例对照研究

目的缺血性脑卒中是一种复杂的病理状态，其中大脑因供血血管阻塞而受损。本研究探讨IL-28B中rs8099917、TGF-β1中rs1800470、rs1800472、TP53中rs1042522、MTHFR中rs180133、GSTP1基因中rs1695的单核苷酸多态性（SNP）基因型和等位基因频率，以及它们单独或多种组合与缺血性卒中发病率的相关性。方法于2024年9月至2025年2月在巴基斯坦木尔坦地区招募156例临床确诊的缺血性脑卒中患者和156例年龄和性别匹配的对照组。采用四引物扩增难解突变系统聚合酶链反应（T-ARMS PCR）法对筛选到的snp进行基因型分析。结果IL-28B rs8099917多态性TT基因型、TGF-β1 rs1800472野生型CC基因型、TGF-β1 rs1800472多态性TT和杂合型CT基因型、IL-28B rs8099917野生型GG基因型、TP53 rs1042522多态性CC基因型和MTHFR rs180133野生型CC基因型与缺血性卒中均存在显著相关性。吸烟者更容易得这种病。而TGF-β1中rs1800470位点和GSTP1中rs1695位点的基因型以及受试者的年龄和性别与缺血性卒中的发生率无关。结论我们的研究结果表明，在筛选的巴基斯坦人群中，分析snp的基因型与缺血性卒中相关。

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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