Neprilysin基因单核苷酸多态性与散发性阿尔茨海默病的关联

Single nucleotide polymorphism of neprilysin gene is associated with Alzheimer′s disease

目的探讨汉族人群中neprilysin基因单核苷酸多态性与散发性阿尔茨海默病(SAD)的关联。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术扩增neprilysin基因核苷酸多态性片段,并通过2%的琼脂糖凝胶电泳对PCR扩增产物进行多态性分型鉴定,比较111例SAD组与102名健康对照组ne-prilysin基因型和等位基因分布频率。结果 SAD组与对照组基因型频率(χ2=11.423、P=0.002)和等位基因的分布频率(χ2=14.120、P=0.000)差异有统计学意义,SAD组TT基因型和T等位基因分布频率高于对照组。结论汉族人群neprilysin基因rs3736187位点为T等位基因型可能增加散发性SAD的发病风险。

Objective To study the association between polymorphisms of neprilysin gene with Alzheimer disease（SAD） in Chinese Han population. Methods To examine the rs3736187 locus in neprilysin genotypes and alleles in SAD patients and healthy controls with PCR and restriction fragment length polymorphisms （RFLPs） technique. Results Our results evidenced a significantly higher percentage of rs3736187 TT genotyped and T allele carriers in SAD subjects with respect to healthy controls. We found that this allele significantly raised the risk of developing SAD. Then SAD and control groups were stratified by sex, no association was observed. Conclusion Our data suggests that the T allele of neprilysin gene may be associated with SAD.