新疆维吾尔族、汉族阿尔茨海默病LRP基因766C/T多态性关联分析

目的 探讨新疆地区维吾尔族、汉族低密度脂蛋白受体相关蛋白基因(low density lipoproteinreceptor-related protein gene,LRP)766C/T多态性与阿尔茨海默病(Alzheimer's disease AD)的关系.方法 对新疆地区维吾尔族、汉族≥50岁8284名人群进行AD流行病学调查,参照ADRDA-NINCDS的标准,选取AD患者209例与正常对照220名,应用聚合酶链反应-限制性片段长度多态技术检测LRP基因766C/T多态性,采用病例-对照的关联分析方法进行基因型和等位基因频率分析.结果 (1)新疆维吾尔族、汉族之间LRP基因的基因型和等位基因分布频率差异有统计学意义(P<0.05).(2)汉族病例组与对照组间基因型和等位基因频率分布差异有统计学意义(P<0.05).(3)在年龄≥65岁的病例组与对照组间基因型和等位基因频率分布差异有统计学意义(P<0.05),且此年龄组携带C等位基因的个体发生AD的危险性显著增加(OR=1.98,P<0.05).(4)在女性病例组中C/C基因型分布频率和C等位基因频率显著高于对照组(P<0.05),女性携带C等位基因的个体发生AD的危险性显著增加(OR=2.927,P<0.05).结论 新疆维吾尔族和汉族之间LRP,基因766C/T多态性存在差异,并发现在汉族、年龄≥65岁及女性人群中LRP基因766C/T多态性与AD的发病风险存在关联.

Association of the low density lipoprotein receptor-related protein gene 766C/T polymorphism with Alzheimer's disease in Xinjiang Uygurs and Hans

OBJECTIVE: To investigate the relationship between the low density lipoprotein receptor-related protein gene (LRP) 766C/T polymorphisms and Alzheimer's disease (AD) in Xinjiang Uygurs and Hans populations. METHODS: Those included in the study were >/= 50 years of age and of either Xinjiang Uygur or Han descents. Two hundred and nine individuals had AD and 220 were healthy controls. They were recruited according to ADRDA-NINCDS criteria?The polymorphisms of the LRP gene were determined by the PCR-restriction fragment length polymorphism technique. The case-control analysis was adopted to analyze the frequencies of genotypes and alleles. RESULTS: (1) The distribution of genotypes or alleles of LRP gene had significant differences between the AD group and the control group in both the Xinjiang Uygurs and Hans populations (P < 0.05). (2) The frequencies of genotypes and alleles were significantly different between the Han AD and Han control group (P < 0.05). (3) The frequencies of genotypes and alleles in those >/= 65 years were significantly different from that in others (P < 0.05). There was a significant increase of AD in the C allele carriers (OR=1.98, P < 0.05). (4) The frequencies of the CC genotype and C allele in female AD patients were higher than that in female controls (P < 0.05), and the C allele carriers had significant increase of AD (OR=2.927, P < 0.05). CONCLUSION: The LRP 766C/T polymorphisms were significantly different between the Chinese Xinjiang Uygur and Han populations. The LRP 766C/T polymorphisms might be associated with AD in the Han population, in females and those of >/= 65 years old.