SOX17基因单核苷酸多态性与安徽地区散发颅内动脉瘤的相关性研究

Correlations of SOX17 gene single nucleotide polymorphisms with sporadic intracranial aneurysm in patients from Anhui province

目的探讨SOX17基因rs1072737、rs9298506和rs10958409位点多态性与安徽地区人群散发颅内动脉瘤(IA)的相关性。方法选择自2017年1月至2020年12月安徽理工大学第一附属医院收治的162例散发IA患者(病例组)及182例同期住院患者或健康体检者(对照组)进入研究。分析并比较2组成员SOX17基因rs1072737、rs10958409和rs9298506位点基因型及等位基因频率,明确不同基因型及等位基因对IA的影响;同时进一步按性别、动脉瘤破裂情况将2组成员进行分层,明确细分人群中IA的危险因素或保护因素。结果2组成员rs10958409基因型分布差异无统计学意义(P>0.05)。多因素Logistic回归分析结果提示rs1072737位点的GG+GT基因型(OR=0.913,95%CI:0.845~0.990,P=0.031)及等位基因G(OR=0.805,95%CI:0.718~0.932,P=0.029)是IA的独立保护因素,rs9298506位点GG+AG基因型(OR=1.043,95%CI:1.008~1.084,P=0.011)及等位基因G(OR=1.003,95%CI:1.001~1.007,P=0.023)是IA的独立危险因素。按性别分层后,rs1072737位点GG+GT基因型及G等位基因仍然是男性及女性IA的独立危险因素(P<0.05),rs9298506位点GG+AG基因型及G等位基因仍然是男性及女性IA的独立保护因素(P<0.05)。按动脉瘤破裂情况分层后结果显示,破裂组和未破裂组IA患者rs1072737位点与rs9298506位点基因型分布差异无统计学意义(P>0.05)。结论安徽地区人群中SOX17基因rs1072737位点GG+GT基因型人群(等位基因G携带者)IA发病风险相对降低,rs9298506位点GG+AG基因型人群(等位基因G携带者)IA发病风险相对升高;rs1072737位点、rs9298506位点多态性与IA破裂与否无相关性。

Objective To investigate the correlations of SOX17 gene polymorphisms at the rs1072737,rs9298506 and rs10958409 loci with sporadic intracranial aneurysm(IA)in patients from Anhui province.Methods A case-control study was performed on 162 patients with sporadic ruptured IA admitted to our hospital from January 2017 to December 2020 and 182 age-matched controls from Inpatient or physical examination center at the same time-period.The genotype and allele frequencies of SOX17 gene at the rs1072737,rs9298506 and rs10958409 loci between the 2 groups were analyzed and compared to determine the influence of different genotypes and alleles in IA.According to gender,the subjects were divided into male and female subgroups;according to rupture of IA,the subjects were divided into ruptured and un-ruptured subgroups;the risk factors and protective factors for IA in these subgroups were verified.Results There was no significant difference in genotype distributions at rs10958409 locus between the two groups(P>0.05).The results of multivariate Logistic regression analysis indicated that GG+GT genotype(OR=0.913,95%CI:0.845-0.990,P=0.031)and allele G(OR=0.805,95%CI:0.718-0.932,P=0.029)at rs1072737 locus were independent protective factors for IA,and GG+AG genotype(OR=1.043,95%CI:1.008-1.084,P=0.011)and allele G(OR=1.003,95%CI:1.001-1.007,P=0.023)at rs9298506 locus were independent risk factors for IA.GG+GT genotype and G allele at rs1072737 locus were still risk factors for IA in both males and females(P<0.05),while GG+AG genotype and G allele at rs9298506 locus were still protective factors for IA in both males and females(P<0.05).There was no significant difference in in genotype distributions at rs1072737 and rs9298506 loci between ruptured subgroup and un-ruptured subgroup(P>0.05).Conclusions In Anhui province,GG+GT genotype(allele G)carriers in SOX17 gene at rs1072737 locus have a relatively low risk of IA,while GG+AG genotype(allele G)carriers in SOX17 gene at rs9298506 locus have a relatively high risk of IA.There is no correlation of SOX17 gene polymorphisms at rs1072737 and RS9298506 loci with rupture of IA.