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目的探讨NOTCH3基因外显子区rs3815188单核苷酸多态性与中国徐州地区汉族人群缺血性脑卒中的关系。分析NOTCH3基因rs3815188位点基因多态性对缺血性脑卒中(TOAST分型)发病的影响。方法采用病例-对照研究方法,入选缺血性脑卒中445例(脑卒中组)和同期门诊体检者200例(对照组)。应用PCR-RFLP方法进行NOTCH3基因分型。比较各基因型和等位基因频率分布与缺血性脑卒中及其亚型的关系。结果脑卒中组按TOAST分型,其中大动脉粥样硬化性脑卒中(LAA)214例、小动脉闭塞性脑卒中(SAO)203例。脑卒中组AA及AG基因型频率均低于对照组(χ2=8.158,P=0.017),A等位基因频率显著低于对照组(χ2=4.897,P=0.027,O R=0.7 6 5,95%CI:0.604~0.970)。LAA亚组与对照组比较,AA、AG及GG基因型差异无统计学意义;SAO亚组A等位基因频率显著低于对照组(χ2=5.986,P=0.014,OR=0.707,95%CI:0.535~0.934)。多变量Logistic回归分析显示A等位基因是缺血性脑卒中及SAO亚型的独立保护性因素(P=0.011,OR=0.634,95%CI:0.457~0.905;P=0.007,OR=0.564,95%CI:0.372~0.854);高血压病、糖尿病、冠心病等是缺血性脑卒中发生的独立危险因素。结论中国徐州地区汉族人群中,NOTCH3基因外显子区rs3815188位点单核苷酸多态性可能与缺血性脑卒中发生风险相关;携带A等位基因可能是缺血性脑卒中的独立保护因素,尤其在SAO。
Objective To investigate the relationship between rs3815188 SNP in exon of NOTCH3 gene and ischemic stroke in Han population in Xuzhou area of China. To analyze the effect of rs3815188 gene of NOTCH3 gene on the incidence of ischemic stroke (TOAST). Methods A case-control study was conducted in 445 ischemic stroke patients (stroke group) and 200 clinic patients in the same period (control group). NOTCH3 genotyping was performed using the PCR-RFLP method. To compare the frequency distribution of each genotype and allele with ischemic stroke and its subtypes. Results The stroke group was classified according to TOAST, including 214 cases of aortic atherosclerosis (LAA) and 203 cases of arteriovenous stroke (SAO) of arterioles. The frequency of AA and AG genotype in stroke group was lower than that in control group (χ2 = 8.158, P = 0.017), and the frequency of allele A was significantly lower than that in control group (χ2 = 4.897, P = 0.027, OR = 0.765,95 % CI: 0.604 ~ 0.970). There was no significant difference in genotypes of AA, AG and GG between LAA subgroup and control group. The frequency of allele A in SAO subgroup was significantly lower than that in control group (χ2 = 5.986, P = 0.014, OR = 0.707, 95% CI : 0.535 ~ 0.934). Multivariate Logistic regression analysis showed that the A allele was an independent protective factor for ischemic stroke and SAO subtypes (P = 0.011, OR = 0.634, 95% CI: 0.457-0.905; P = 0.007, OR = 0.564, 95% CI: 0.372-0.854). Hypertension, diabetes and coronary heart disease were independent risk factors of ischemic stroke. Conclusions Single nucleotide polymorphisms of rs3815188 in exon of NOTCH3 gene may be associated with the risk of ischemic stroke in Chinese Han population in Xuzhou, China. Carrying A allele may be an independent protection for ischemic stroke Factors, especially in SAO.