CAJ | 학술논문

目的了解DJ-1基因3个多态位点(g.168-185del;SNP405,refSNPID:rs3766606;293G/A)的频率以及与帕金森病的相关性.方法采用病例-对照研究,应用聚合酶链反应-限制性片段长度多态性及DNA测序等技术对192例帕金森病患者和198名对照者的3个位点进行基因型的检测.结果在g.168-185del位点,研究人群中Ins/Ins基因型较普遍,等位基因Del的频率很低(0.38%);在所检测的人群中未发现293G/A的多态性.上述结果与欧美国家的报道不一致.在SNP405 G/T多态位点中,在发病年龄小于40岁的帕金森患者群中G/T基因型频率显著高于对照组(18.75%vs5.54%,P=0.004,OR=6.30,95%CI:1.96～20.18).结论 g.168-185del和293G/A两多态性位点的频率在中国人群与欧美人群间可能存在差异;非翻译区SNP405 G/T多态性可能增加早发帕金森病的发病风险.
목적 료해DJ-1기인3개다태위점(g.168-185del;SNP405,refSNPID:rs3766606;293G/A)적빈솔이급여파금삼병적상관성.방법 채용병례-대조연구,응용취합매련반응-한제성편단장도다태성급DNA측서등기술대192례파금삼병환자화198명대조자적3개위점진행기인형적검측.결과 재g.168-185del위점,연구인군중Ins/Ins기인형교보편,등위기인Del적빈솔흔저(0.38%);재소검측적인군중미발현293G/A적다태성.상술결과여구미국가적보도불일치.재SNP405 G/T다태위점중,재발병년령소우40세적파금삼환자군중G/T기인형빈솔현저고우대조조(18.75%vs5.54%,P=0.004,OR=6.30,95%CI:1.96～20.18).결론 g.168-185del화293G/A량다태성위점적빈솔재중국인군여구미인군간가능존재차이;비번역구SNP405 G/T다태성가능증가조발파금삼병적발병풍험.
Objective To investigate the frequencies of three polymorphisms in DJ-1 (g.168-185de 1;SNP 405, refSNP ID:rs 3766606 and 293 G/A) and their association with sporadic Parkinson's disease. Methods An association study was performed to determine the genotype of each subject using polymerase chain reaction, restriction fragment length polymorphism and sequence analysis in 192 patients with sporadic Parkinson's disease and 198 healthy controls. Results In the g.168-185 del locus, the Ins/Ins genotype was common and the frequency of Del allele was very low (0.38%). The SNP of 293G/A was not detected in both groups. In the SNP405 G/T site, the GT genotype frequency was significantly higher in patients with age of onset before40 years than in controls (18.75 % vs5.54%, P =0.004, OR =6.3095 % CI :1.96～20.18). ConclusionThe results suggest that the frequencies of the g.168185 del and 293 G/A polymorphisms might be different between Chinese and European. The SNP405 GT genotype might be a risk factor for sporadic Parkinson' s disease with early age of onset in Sichuan Han population.