【摘要】 目的阿尔茨海默病(AD)作为老年痴呆的一种主要类型,其特征为进行性认知功能障碍和记忆损害。本文旨在探索ZNF224基因(rs2061332,rs4508518)与中国北方人群阿尔茨海默病患病风险的关联。方法本研究采用病例-对照,在来自中国北方人群的48例散发性AD患者和48例对照者中,对ZNF224基因(rs2061332,rs4508518)进行两组间的等位基因及基因型遗传模型差异分析,ZNF224基因使用聚合酶连反应-高分辨率溶解曲线(PCR-HRM)方法分型并对其分型结果进行测序验证。结果①ZNF224基因(rs2061332,rs4508518)风险等位基因和基因型的频率在病例组和对照间组间的分布无显著性差异(P>0.05);②ZNF224基因(rs2061332,rs4508518)在临床变量痴呆程度上其病例组内等位基因与基因型也无统计学差异。结论研究显示ZNF224基因(rs2061332,rs4508518)可能与中国北方人群AD患病风险无关联。更多还原

【Abstract】 Objective Alzheimer’s disease( AD) as a type of senile dementia,and was characterized by progressive cognitive dysfunction and memory impairment. The purpose of this paper is to explore ZNF224 gene( rs2061332 rs4508518) associated with Alzheimer’s disease risk in North Chinese population. Methods 48 AD cases and 48 age-matched non-demented controls from the North Chinese population were used in this study,and their blood samples were collected for genotyping. SNPs( rs2061332 rs4508518) in ZNF224 were determined by PCR-HRM( High Resolution Melting) analysis and sequencing. Results The rs2061332 and rs4508518 polymorphisms in ZNF224 gene were not identified to be associated with AD in the North Chinese population: ①ZNF224 gene( rs2061332 rs4508518) risk alleles and genotype frequencies between cases and controls were no significant difference( P > 0. 05); ②ZNF224 gene( rs2061332 rs4508518) varies alleles and genotypes within the case group had no statistical difference in clinical variables dementia degree. Conclusion The study shows that ZNF224 gene( rs2061332 rs4508518) were no associated with AD risk in the North China population.更多还原