Low-density lipoprotein receptor-related protein1 (LRP1) and alpha-2-macroglobulin (A2M) are candidate genes for sporadic Alzheimer's disease (SAD). It is not clear whether the LRP1 exon 3 and A2M exon 24 polymorphisms are associated with SAD. In the present study, we used direct sequencing to genotype the LRP1 C766T (rs1799986) polymorphism in exon 3 and the A2M I1000V (rs669) polymorphism in exon 24 in 364 patients with SAD and 291 healthy control subjects from the Northern Chinese Han population. The distributions of LRP1 genotypes (chi-squared [χ(2)]=7.25, degrees of freedom [d.f.]=2, p=0.027) and alleles (χ(2)=8.154, d.f.=1, p=0.004) were significantly different between patients and controls who were apolipoprotein E (APOE) ε4 positive. The T allele and TT+TC genotype were associated with a reduced risk of developing SAD (T allele: odds ratio [OR]=0.541, 95% confidence interval [CI]=0.368-0.859, p=0.005; TT+TC genotype: OR=0.613, 95% CI=0.315-0.725, p=0.012). There was no statistically significant difference in allele and genotype frequencies between patients with SAD and control subjects for the A2M I1000V polymorphism, even after stratification by age of onset, gender, and APOE ε4 status. We found an interaction between LRP1 and APOE genotypes (p=0.001), but no interaction between LRP1 and A2M genotypes. Our results suggest that the T allele of the LRP1 C766T polymorphism is associated with a decreased risk of SAD in APOE ε4 carriers from the Northern Han Chinese population.

译文

低密度脂蛋白受体相关蛋白1(LRP1)和α-2-巨球蛋白(A2M)是偶发性阿尔茨海默氏病(SAD)的候选基因。尚不清楚LRP1外显子3和A2M外显子24多态性是否与SAD相关。在本研究中,我们使用直接测序对364位SAD患者和291位来自中国北方汉族人群的健康对照者中第3外显子LRP1 C766T(rs1799986)多态性和第24外显子A2M I1000V(rs669)基因型进行基因分型。 LRP1基因型(卡方[χ(2)] = 7.25,自由度[df] = 2,p = 0.027)和等位基因(χ(2)= 8.154,df = 1,p = 0.004)的分布为载脂蛋白E(APOE)ε4阳性的患者和对照组之间存在显着差异。 T等位基因和TT TC基因型与SAD发生风险降低相关(T等位基因:优势比[OR] = 0.541,95%置信区间[CI] = 0.368-0.859,p = 0.005; TT TC基因型:OR = 0.613,95%CI = 0.315-0.725,p = 0.012)。即使是按发病年龄,性别和APOEε4状态分层,SAD患者和对照组的A2M I1000V多态性之间的等位基因和基因型频率也没有统计学上的显着差异。我们发现LRP1和APOE基因型之间存在交互作用(p = 0.001),但LRP1和A2M基因型之间没有交互作用。我们的研究结果表明,LRP1 C766T多态性的T等位基因与来自北方汉族的APOEε4携带者的SAD风险降低有关。

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