【摘要】 目的探讨中国新疆维吾尔族老年人维生素D受体(VDR)基因Apa I(rs7975232)位点及亚甲基四氢叶酸还原酶(MTHFR)基因C677T(rs1801133)位点单核苷酸多态性与轻度认知功能障碍(MCI)的关联,以及两基因间可能存在的交互作用。方法在流行病学调查的基础上,采用美国精神病学会的精神障碍诊断和统计手册第4修订版(DSM-Ⅳ)中MCI的诊断标准,入选MCI患者124例(MCI组);另选择同一调查地,一般情况与MCI组匹配的健康者124名(对照组)。应用PCR扩增及SNa P shot SNP分型技术检测VDR基因和MTHFR基因的单核苷酸多态性。结果 1VDR基因Apa I(rs7975232)位点AA基因型及A等位基因频率在MCI组中分布较高(P<0.05);2MTHFR基因C677T(rs1801133)位点C/T多态性在两组中分布差异无统计学意义(P>0.05);3MTHFR基因CC基因型合并VDR基因AA、CA基因型及A等位基因者基因频率在MCI组中分布较高(P<0.05)。结论 VDR基因Apa I(rs7975232)C/A多态性可能与中国新疆维吾尔族MCI发病相关;未发现MTHFR基因C677T(rs1801133)C/T多态性与维吾尔族MCI相关;MTHFR基因可能增加VDR基因MCI的发病风险。更多还原

【Abstract】 Aim To investigate the relationship of the polymorphism of vitamin D receptor(VDR) gene and methylene tetrahydrofolate reductase(MTHFR) gene and mild cognitive impairment(MCI) in Uygurs in Xinjiang, China. And to investigate the association between these two genes. Methods The case-control anlaysis was adopted. According to DSM- Ⅳ criteria, 124 cases and 124 controls were chosen from the epidemiology investigation of MCI in Xinjiang, China. The polymorphisms of the VDR gene Apa I(rs7975232) and MTHFR gene C677T(rs1801133) in the two groups were analyzed by SNa P shottechnique. χ~2 test was used to access the differences of genotypes and alleles of VDR gene and MTHFR gene between the cases and the controls, and P values below 0.05 were considered signifi cantly. Results(1)The frequencies of AA and A of the VDR gene ApaI(rs7975232) were higher that in MCI group(P<0.05).(2) The frequencies of genotypes and alleles of the MTHFR gene C677T(rs1801133) were not signifi cantly different in MCI group and the control group(P>0.05).(3) The frequencies of AA, CA and A of the VDR gene Apa I(rs7975232) with CC of the MTHFR gene C677T(rs1801133) were signifi cantly different in MCI group(P<0.05). Conclusion The polymorphism of the VDR gene Apa I(rs7975232) is related to MCI in Uygurs, and it might increase the risk rate of MCI in Uygurs. The polymorphism of the MTHFR gene C677T(rs1801133) isn’t related to MCI in Uygurs. MTHFR gene might increase the VDR gene’s risk of being taken MCI in Uygurs.更多还原