CAJ | 학술논문

目的探讨与糖尿病、肥胖相关的12个基因中相关位点与颅内动脉瘤(IA)发病的关系.方法选择天津地区共376人作为研究对象,其中119例IA患者为天津医科大学总医院自2013年至2014年收治并确诊的患者;257例对照人群为该院健康体检并自愿参与研究的人员.采用EDTA抗凝管留取2组成员2mL静脉血标本进行DNA提取,对TSLC2A9、TOX等12个基因的16个位点进行分型.采用x2检验计算单核苷酸多态性位点等位基因的突变频率.结果位于SLC2A9基因的rs7660895 (x2=7.330,P=0.007,OR=1.541,95％CI=1.126～2.110)和TOX基因上的rs11777927位点(x2=6.103,P=0.013,OR=1,511,95％CI=1.088～2.098)与IA相关,其余的基因位点与IA无关.排除血缘关系影响后,SFI1 rs2295251位点(P=0.043,OR=0.717,95％CI=0.519～0.990)与IA相关,但可能是因样本量较小或者偏倚导致.结论糖尿病相关基因SLC2A9和TOX的突变与颅内动脉瘤发病相关,其突变可能增加IA发生风险.
목적 탐토여당뇨병、비반상관적12개기인중상관위점여로내동맥류(IA)발병적관계.방법 선택천진지구공376인작위연구대상,기중119례IA환자위천진의과대학총의원자2013년지2014년수치병학진적환자;257례대조인군위해원건강체검병자원삼여연구적인원.채용EDTA항응관류취2조성원2mL정맥혈표본진행DNA제취,대TSLC2A9、TOX등12개기인적16개위점진행분형.채용x2검험계산단핵감산다태성위점등위기인적돌변빈솔.결과 위우SLC2A9기인적rs7660895 (x2=7.330,P=0.007,OR=1.541,95％CI=1.126～2.110)화TOX기인상적rs11777927위점(x2=6.103,P=0.013,OR=1,511,95％CI=1.088～2.098)여IA상관,기여적기인위점여IA무관.배제혈연관계영향후,SFI1 rs2295251위점(P=0.043,OR=0.717,95％CI=0.519～0.990)여IA상관,단가능시인양본량교소혹자편의도치.결론 당뇨병상관기인SLC2A9화TOX적돌변여로내동맥류발병상관,기돌변가능증가IA발생풍험.
Objective Subarachnoid hemorrhage (SAH),caused by rupture of intracranial aneurysms (IAs),is a critical complication of neurosurgery.However,there have been few reports examining the genes related to risk factors that may contribute to IAs.The current study aims to explore the relationship between Chinese IAs patients and 16 gene loci,which have proven to be associated with type 2 diabetes mellitus (T2DM) and obesity.Methods Three hundred and fifty-seven subjects were recruited,including 119 patients with IAs (admitted to our hospital from 2013 to 2014) and 257 healthy volunteers (controls).DNA extraction was performed in the 2 mL venous blood from each subject;and 16 single nucleotide polymorphisms (SNPs) in 12 genes were genotyped in both groups.SNPs genotypes and allele frequencies were analyzed by chi-square test.Results IAs were associated with two SNPs:rs76608951ocusintheTSLC2A9 gene,(x2=7.330,P=0.007,OR=1.541,95％CI=1.126-2.110) and rs11777927 locus in the TOX gene (x2=6.103,P=0.013,OR=1.511,95％CI=1.088-2.098).Subsequent removal of the influence of family relation indicated that rs2295251 locus in SFI1 gene (P=0.043,OR=0.717,95％CI=0.519-0.990) was associated with IAs,which could be a mistake resulting from samll sample or bias.Conclusion TSLC2A9 (rs7660895) and TOX (rs11777927) gene polymorphisms may be associated with formation of IAs,which might increased the risk of IAs.