SOCS3基因多态性与急性脑梗死遗传易感性及进展的关系

Relationship between SOCS3 gene polymorphism and genetic susceptibility and progression of acute cerebral infarction

目的:分析急性脑梗死(ACI)病人的SOCS3基因多态性,并探讨其与疾病进展的关系。方法:根据入院时美国国家卒中量表(NIHSS),将310例ACI病人分为轻度和中重度。根据入院后7 d的NIHSS评分将病人进一步分为进展组和非进展组。根据SOCS3基因rs8064821的测序结果,检测到CC、CA和AA三种基因型,分析各基因型的分布差异及其对疾病进展的预测价值。结果:ACI病人SOCS3基因rs8064821位点的基因型分布为CC(161例)、CA(127例)和AA(22例),频率分别为51.93%、40.97%和7.10%。中重度组病人的CC基因型比例低于轻度组,CA、AA基因型比例高于轻度组(P<0.01)。与非进展组相比,进展为神经功能缺损的病人CC基因型比例较低,CA和AA基因型比例较高(P<0.01)。结论:CA和AA基因型是皖北地区ACI病人SOCS3基因rs8064821位点的主要基因型,携带CA和AA基因型的病人更易出现神经功能障碍。

Objective:To investigate the SOCS3 gene polymorphism of patients with acute cerebral infarction(ACI),and analyze its relationship with disease progression.Methods:According to the National Institute of Health stroke scale(NIHSS)at admission,310 patients with ACI were divided into the mild group and moderate to severe group.The patients were further divided into the progressive group and non-progressive group according to NIHSS score after 7 days of admission.According to the sequencing results of SOCS3 gene rs8064821,three genotypes of CC,CA and AA were detected,and the distribution difference of each genotype and its predictive value for disease progression were analyzed.Results:The distribution of SOCS3 genotype at rs8064821 in patients with ACI was CC(161 cases),CA(127 cases),and AA(22 cases),and the frequencies were 51.93%,40.97%,and 7.10%,respectively.Compared with the mild group,the proportion of CC genotype was lower,while the proportion of CA and AA genotypes were higher in moderate to severe group(P<0.01).Compared with the non-progressive group,the proportion of CC genotype was lower,and the proportion of CA and AA genotype were higher in patients with neurological deficit(P<0.01).Conclusions:The CA and AA genotypes are the main genotypes of SOCS3 in patients with ACI in northern Anhui of China.The patients with CA and AA are more likely to develop neurological deficits.