维生素D受体基因ApaI和TaqI位点多态性与帕金森病的相关性研究

Association of vitamin D receptor gene polymorphisms with Parkinson disease

目的探讨维生素D受体（vitaminDreceptor，VDR）基因ApaI和TaqI位点多态性与帕金森病（Parkinson’sdisease，PD）遗传易感性的相关性。方法采用聚合酶链反应一限制性片段长度多态性技术和基因测序方法，检测285例中国北方汉族散发PD患者与285名正常对照VDR基因ApaI和TaqI位点多态性，并比较两组基因型和等位基因频率的差异。结果A抛I和TaqI位点基因型和等位基因频率在PD组和对照组之间差异均无统计学意义（P〉0．05）。将样本按性别及发病年龄分组后比较，ApaI位点各亚组间基因型频率和等位基因频率差异亦无统计学意义（P〉0．05），而TaqI位点的基因型分布在男性PD组（168例）与男性对照组（160名）之间差异有统计学意义（X2=4．187，P=0．032，OR=2．149，95％cI：1．011～4．567），男性PD组T等位基因频率较男性对照组显著增高（X2=3．867，P=0．036，OR=2．064，95％CI：0．989～4．307）。结论VDR基因A加I位点多态性与PD风险间无相关性，但TaqI可能是男性PD的风险因素。

Objective Vitamin D receptor （VDR） has been proposed as a candidate gene for susceptibility to Parkinson＇s disease （PD）. This study was set to assess the association between VDR gene Apa I and Taq I polymorphisms and PD in a Chinese Han population. Methods Two hundred and eighty- five sporadic PD patients and 285 healthy controls were genotyped for the Apa I and Taq I polymorphisms in VDR gene using polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） method. Results No significant difference was detected in genotype or allele distribution of both Apa I and Taq I polymorphisms between PD patients and controls （P^0.05）. No TT genotype for Taq I was found in the studied population. For Taq I , the distribution of genotype was significantly different between male PD patients and controls （ 2=4.187, P= 0.032, 0R：2.149, 95%CI：1.011-4.567）, and the frequency of T allele was significantly higher in male PD patients than male controls （X2= 3. 867, P=0. 036, OR= 2.064, 95%CI：0. 989-4. 307）. Conclusion VDR gene Apa I polymorphisms are not associated with sporadic Parkinson＇s disease, hut Taq I may be a risk factor for male PD.