Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.
J Thromb Thrombolysis. 2013 Oct;36(3):307-13. doi: 10.1007/s11239-012-0849-9.
Tumor necrosis factor superfamily member 4 (TNFSF4) plays a key role in the process of atherosclerosis, a common risk factor for both myocardial and cerebral infarctions. Recent studies indicate that the single nucleotide polymorphism (SNP) rs3850641 in TNFSF4 is associated with higher risk of myocardial infarction, but little is known about the association between TNFSF4 variation and cerebral infarction (CI). A case-control study involving 385 CI patients and 385 age-matched, sex-matched non-CI controls was conducted in a Chinese population, only the most common subtype, atherosclerosis CI, was recruited. Two SNPs of TNFSF4, rs3850641 and rs3861950, were genotyped by the TaqMan SNP genotyping method, and verified partly by genomic DNA sequencing. The results revealed a significant allelic association between rs3861950 and CI (Odds ration = 1.733, 95 % confidence interval = 1.333-2.254, P = 0.000). Genotypic association analysis demonstrated that the CC genotype of rs3861950 confers susceptibility to CI (Odds ration = 2.896, 95 % confidence interval = 1.368-6.132), and it was associated with a significantly higher risk of ischemic stroke (Odds ration = 3.520, 95 % confidence interval = 1.546-8.015, P = 0.003) after adjusting for the other confirmed risk factors such as the history of hypertension, diabetes, CAD, smoking and alcohol drinking. While the odds ratio of the T allele to the C allele was 1.733 (95 % confidence interval: 1.333-2.254). However, there was no significant association between rs3850641 and CI (Odds ration = 1.288, 95 % confidence interval = 0.993-1.670, P = 0.056). TNFSF4 gene polymorphism rs3861950, but not rs3850641, is associated with the risk of atherosclerosis CI in a Chinese population.
肿瘤坏死因子超家族成员 4（TNFSF4）在动脉粥样硬化过程中起着关键作用，动脉粥样硬化是心肌梗死和脑梗死的共同危险因素。最近的研究表明，TNFSF4 中的单核苷酸多态性（SNP）rs3850641 与心肌梗死的风险增加有关，但关于 TNFSF4 变异与脑梗死（CI）之间的关系知之甚少。在中国人群中进行了一项涉及 385 例 CI 患者和 385 名年龄匹配、性别匹配的非 CI 对照的病例对照研究，仅招募了最常见的亚型，即动脉粥样硬化性 CI。使用 TaqMan SNP 基因分型方法对 TNFSF4 的两个 SNP，rs3850641 和 rs3861950 进行了基因分型，并部分通过基因组 DNA 测序进行了验证。结果显示 rs3861950 与 CI 之间存在显著的等位基因关联（比值比=1.733，95%置信区间=1.333-2.254，P=0.000）。基因型关联分析表明，rs3861950 的 CC 基因型易患 CI（比值比=2.896，95%置信区间=1.368-6.132），并且与缺血性脑卒中的风险显著增加相关（比值比=3.520，95%置信区间=1.546-8.015，P=0.003），在调整高血压、糖尿病、CAD、吸烟和饮酒等其他已确认的危险因素后。然而，T 等位基因与 C 等位基因的比值比为 1.733（95%置信区间：1.333-2.254）。然而，rs3850641 与 CI 之间没有显著关联（比值比=1.288，95%置信区间=0.993-1.670，P=0.056）。TNFSF4 基因多态性 rs3861950 与中国人群动脉粥样硬化性 CI 的风险相关，但 rs3850641 与 CI 无关。
