CAJ | 학술논문

目的：探讨LRRK2基因多态性同散发性阿尔茨海默病（SAD）的相关性。方法采集216例中国东南部福建地区汉族SAD患者和433例健康者的周围血液标本并提取DNA ，应用聚合酶链反应（PCR）-限制性酶切方法（RFLP）进行LRRK2基因R1628P和G2385R多态位点的基因型检测，变异者进行直接测序验证。结果R1628P检测中，SAD组C等位基因频率显著低于对照组（0．5％ vs 2．1％，χ2＝4．959，P＜0．05）；SAD组GC基因型频率也显著低于对照组（0．9％ vs 4．2％，χ2＝5．037，P＜0．05）。Logistic回归分析校正年龄、性别等因素的影响后，发现携带R1628P多态者比未携带者AD发病风险降低88％（OR：0．217，95％ CI：0．050～0．945，P＜0．05）。G2385R检测中，SAD组A等位基因频率及GA基因型频率分别同对照组比较，差别无统计学意义（A等位基因：2．1％ vs 1．4％，χ2＝0．881，P＞0．05；GA基因型：4．2％ vs 2．8％，χ2＝0．896，P＞0．05）。结论 LRRK2基因R1628P多态可能是SAD发病中的一个保护性因子，而G2385R多态同SAD发病没有相关性。
목적：탐토LRRK2기인다태성동산발성아이자해묵병（SAD）적상관성。방법채집216례중국동남부복건지구한족SAD환자화433례건강자적주위혈액표본병제취DNA ，응용취합매련반응（PCR）-한제성매절방법（RFLP）진행LRRK2기인R1628P화G2385R다태위점적기인형검측，변이자진행직접측서험증。결과R1628P검측중，SAD조C등위기인빈솔현저저우대조조（0．5％ vs 2．1％，χ2＝4．959，P＜0．05）；SAD조GC기인형빈솔야현저저우대조조（0．9％ vs 4．2％，χ2＝5．037，P＜0．05）。Logistic회귀분석교정년령、성별등인소적영향후，발현휴대R1628P다태자비미휴대자AD발병풍험강저88％（OR：0．217，95％ CI：0．050～0．945，P＜0．05）。G2385R검측중，SAD조A등위기인빈솔급GA기인형빈솔분별동대조조비교，차별무통계학의의（A등위기인：2．1％ vs 1．4％，χ2＝0．881，P＞0．05；GA기인형：4．2％ vs 2．8％，χ2＝0．896，P＞0．05）。결론 LRRK2기인R1628P다태가능시SAD발병중적일개보호성인자，이G2385R다태동SAD발병몰유상관성。
Objective To investigate the relationship between the polymorphisms of leucine-rich repeat kinase 2 (LRRK2) gene and sporadic Alzheimer’s disease(SAD) . Methods A total of 649 sub-jects from Han Chinese population in Fujian in south-eastern China were enrolled ,including 433 control in-dividuals and 216 patients with SAD . Genotyping of R1628P and G2385R variants were performed by PCR-restriction fragment length polymorphism analysis ,and All variant samples were sequenced for fur-ther confirmation . Results The R1628P genotype frequency distributions were significantly different be-tween patients and control individuals , with fewer GC genotypes in SAD patients (0 .9% vs 4 .2% ,χ2 =5 .037 ,P<0 .05) . The C allele is less frequent in SAD patients than in controls (0 .5% vs 2 .1% ,χ2 =4 .959 ,P<0 .05) . Multivariate logistic regression analysis after adjusting for gender and age of dis-ease onset indicated that R1628P was a potential protective factor for SAD with 88% lower risk in patients than controls (OR:0 .217 ,95% CI:0 .050~0 .945 ,P<0 .05) . However ,there was no significant differ-ence in G2385R genotype or allele frequency between cases and controls (GA genotype:4 .2% vs 2 .8% ,χ2 =0 .896 ,P>0 .05;A allele :2 .1% vs 1 .4% ,χ2 =0 .881 ,P>0 .05) . Conclusion The R1628P polymor-phism of the LRRK2 gene may be a protective factor for SAD ,but there is no association of the G 2385R polymorphism with SAD .