LOC105375840基因单核苷酸多态性位点与四川地区汉族人群颅内动脉瘤的关联研究

摘要

目的 探讨LOC105375840基因单核苷酸多态性(SNP)位点与四川地区汉族人群颅内动脉瘤(IA)的关联性.方法 入选279例IA患者和670例正常对照样本,利用病例-对照关联研究的方法,选取LOC105375840基因内含子区2个SNP位点(rs6473928和rs4738837),并采用单碱基延伸法(SNaPshot)进行基因分型,研究这2个SNP位点与颅内动脉瘤发病是否相关.结果 LOC105375840基因rs6473928和rs4738837位点基因型分布均符合哈迪-温伯格平衡(P>0.05).两个位点基因型(rs6473928 P=0.0327,rs4738837 P=0.0277)和等位基因(rs6473928 P=0.0106,rs4738837 P=0.0098)频率在IA组与对照组之间差异具有统计学意义.通过Haploview单倍体型分析显示,rs6473928和rs4738837位于8号染色体同一连锁不平衡区,其中:AG为风险单倍体型,可增加IA患病风险54％(OR=1.54,P=0.0133),而GA则为保护型单倍体型,可降低IA易感性34％(OR=0.66,P=0.0274).结论 LOC105375840基因内含子区SNP位点(rs6473928和rs4738837)与四川地区汉族人群颅内动脉瘤发病相关.%Objective To investigate the association between single nucleotide polymorphisms ( SNPs) in the LOC105375840 gene and intracranial aneurysm ( IA) in a Sichuan Han Chinese population .Methods Genomic DNA samples from 279 patients with IA and 670 normal controls were collected .Two SNPs ( rs6473928 and rs4738837 ) in the intron of LOC105375840 gene were geno-typed by using SNaPshot method .Results All the genotype frequencies of these two SNPs were in Hardy-Weinberg equilibrium ( HWE) ( P>0.05 ) .Significant differences were found in both genotype and allele frequency distribution of these SNPs between IA group and control group (P<0.05).These two SNPs were in the same linkage disequilibrium (LD) block located in Chromosome 8. The risk haplotype AG could increase the susceptibility to IA by 54％( P=0.0133 ) ,and the protective haplotype GA could decrease the susceptibility to IA by 34％( P =0.0274 ) .Conclusion Our results suggest that SNPs in the LOC 105375840 gene were signifi-cantly associated with IA in the Sichuan Han Chinese population .