PCSK9基因rs2479409位点多态性与认知障碍相关

目的探讨前蛋白转化酶枯草溶菌素9(PCSK9)基因rs2479409位点多态性与认知功能障碍的相关性。方法在中国江苏省如皋县开展的以人群为基础的病例对照研究中,共纳入了1 707例年龄70~84岁的研究对象,使用改良长谷川痴呆量表(HDS-R)评价该人群认知功能,并检测了该人群中PCSK9基因rs2479409位点单核苷酸多态性情况。结果该人群PCSK9基因rs2479409多态性主要以GG和AG基因型存在。认知障碍组和对照组在rs2479409位点的等位基因频率、基因型频率分布有差异(P0.05)。A等位基因为认知障碍保护性因素,GG基因型相对于AA基因型1.66倍增加认知障碍发生风险(OR=1.66,95%CI 1.16~2.36,P0.01),调整相关混杂因素后仍有统计学差异(P0.05)。结论 PCSK9基因rs2479409位点多态性与认知障碍相关。

Association between PCSK9 rs2479409 SNP and cognitive impairment

Objective To investigate the association between single nucleotide polymorphism ( SNP) of proprotein convertase subtilisin/kexin type 9 ( PCSK9 ) rs2479409 and cognitive impairment .Methods In this population-based cohort study conducted in Rugao , Jiangsu province , China , a total of 1707 participants aged 70-84 years old were included.The cognitive impairment was assessed by Revised-Hasegawa Dementia Scale (HDS-R).Their SNPs rs2479409 of PCSK9 were examined.Results According the HDS-R, there were 789 cases in cognitive im-pairment group and 918 cases in control group .GG and AG were major genotype of rs 2479409.The distribution of allele frequency and genotype frequency of rs 2479409 was significantly different between cognitive impairment group and the control group ( P<0.05 ) .A allele was a protective factor for cognitive impairment , and risk of cognitive im-pairment increased by 1.66 folds in GG genotype compared with AA genotype GG genotype ( OR=1.66,95 %CI 1.16-2.36,P<0.01), the significance remained after adjusting for confounders (P<0.05).Conclusions SNP rs2479409 of PCSK9 gene is associated with cognitive impairment .