中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2013年
1期
13-16
,共4页
刘洪欣%韩珣%郑雪萍%栗永生%谢安木
劉洪訢%韓珣%鄭雪萍%慄永生%謝安木
류홍흔%한순%정설평%률영생%사안목
维生素D受体%帕金森病%单核苷酸多态性
維生素D受體%帕金森病%單覈苷痠多態性
유생소D수체%파금삼병%단핵감산다태성
Vitamin D receptor%Parkinson's disease%Single nucleotide polymorphisms
目的 探讨维生素D受体(vitamin D receptor,VDR)基因ApaⅠ和Taq Ⅰ位点多态性与帕金森病(Parkinson's disease,PD)遗传易感性的相关性.方法 采用聚合酶链反应-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 ApaⅠ和Taq Ⅰ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(1 60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ApaⅠ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.
目的 探討維生素D受體(vitamin D receptor,VDR)基因ApaⅠ和Taq Ⅰ位點多態性與帕金森病(Parkinson's disease,PD)遺傳易感性的相關性.方法 採用聚閤酶鏈反應-限製性片段長度多態性技術和基因測序方法,檢測285例中國北方漢族散髮PD患者與285名正常對照VDR基因ApaⅠ和TaqⅠ位點多態性,併比較兩組基因型和等位基因頻率的差異.結果 ApaⅠ和Taq Ⅰ位點基因型和等位基因頻率在PD組和對照組之間差異均無統計學意義(P＞0.05).將樣本按性彆及髮病年齡分組後比較,ApaⅠ位點各亞組間基因型頻率和等位基因頻率差異亦無統計學意義(P＞0.05),而TaqⅠ位點的基因型分佈在男性PD組(168例)與男性對照組(1 60名)之間差異有統計學意義(x2=4.187,P=0.032,OR=2.149,95％CI:1.011～4.567),男性PD組T等位基因頻率較男性對照組顯著增高(x2=3.867,P=0.036,OR=2.064,95％CI:0.989～4.307).結論 VDR基因ApaⅠ位點多態性與PD風險間無相關性,但TaqⅠ可能是男性PD的風險因素.
목적 탐토유생소D수체(vitamin D receptor,VDR)기인ApaⅠ화Taq Ⅰ위점다태성여파금삼병(Parkinson's disease,PD)유전역감성적상관성.방법 채용취합매련반응-한제성편단장도다태성기술화기인측서방법,검측285례중국북방한족산발PD환자여285명정상대조VDR기인ApaⅠ화TaqⅠ위점다태성,병비교량조기인형화등위기인빈솔적차이.결과 ApaⅠ화Taq Ⅰ위점기인형화등위기인빈솔재PD조화대조조지간차이균무통계학의의(P＞0.05).장양본안성별급발병년령분조후비교,ApaⅠ위점각아조간기인형빈솔화등위기인빈솔차이역무통계학의의(P＞0.05),이TaqⅠ위점적기인형분포재남성PD조(168례)여남성대조조(1 60명)지간차이유통계학의의(x2=4.187,P=0.032,OR=2.149,95％CI:1.011～4.567),남성PD조T등위기인빈솔교남성대조조현저증고(x2=3.867,P=0.036,OR=2.064,95％CI:0.989～4.307).결론 VDR기인ApaⅠ위점다태성여PD풍험간무상관성,단TaqⅠ가능시남성PD적풍험인소.
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 (x2 =4.187,P=0.032,OR=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,but Taq Ⅰ may be a risk factor for male PD.
