CAJ | 학술논문

目的探讨中国汉族人群中钙蛋白酶抑制蛋白(CAST)基因座单核苷酸多态性与散发性帕金森病(PD)的晚期发作之间的关联性.方法取370名PD晚发患者和390名无神经系统疾病健康对照,取外周血提取DNA,使用基质辅助激光解析串联飞行时间质谱仪(MALDI-TOF-MS)对CAST基因的24个标签单核苷酸多态性(SNPs)进行基因分型,用x2-检验、logistic回归模型以及以贝叶斯算法(Bayesian algorithm)为基础的PHASE软件进行统计学分析.结果在共显性基因模式中,未发现任何SNP与PD显著相关(P＞0.05)；用年龄和性别校准后,进一步进行Logistic回归分析显示,在显性基因模式和隐性基因模式中均未发现任何CAST的基因多态性与PD有相关性(P＞0.05).连锁不平衡分析发现4个强连锁不平衡区域,未发现任何单倍型与PD发病密切相关(P＞0.05).结论在中国汉族人群中,CAST与散发性PD的晚期发作无显著关联性.
목적 탐토중국한족인군중개단백매억제단백(CAST)기인좌단핵감산다태성여산발성파금삼병(PD)적만기발작지간적관련성.방법 취370명PD만발환자화390명무신경계통질병건강대조,취외주혈제취DNA,사용기질보조격광해석천련비행시간질보의(MALDI-TOF-MS)대CAST기인적24개표첨단핵감산다태성(SNPs)진행기인분형,용x2-검험、logistic회귀모형이급이패협사산법(Bayesian algorithm)위기출적PHASE연건진행통계학분석.결과 재공현성기인모식중,미발현임하SNP여PD현저상관(P＞0.05)；용년령화성별교준후,진일보진행Logistic회귀분석현시,재현성기인모식화은성기인모식중균미발현임하CAST적기인다태성여PD유상관성(P＞0.05).련쇄불평형분석발현4개강련쇄불평형구역,미발현임하단배형여PD발병밀절상관(P＞0.05).결론 재중국한족인군중,CAST여산발성PD적만기발작무현저관련성.
Objective To explore the association between late-onset sporadic Parkinson' s disease (PD) and single nucleotide polymorphisms (SNPs) of Ca2+-dependent protease calpain inhibitor calpastatin (CAST) gene in a Chinese Han population.Methods 370 evaluable patients (221 male,149 female) with PD (mean age 65.2 ± 8.5 years) and 390 neurologically healthy controls (208 male,182 female) matched for gender,ethnicity,and area of residence.PD cases were identified from the PD cohort of the Chinese National Consortium on Neurodegenerative Diseases (www.chinapd.cn).A total of 24 tag-SNPs were genotyped capturing 95％ of the genetic variation across the CAST gene.Results There was no association found between any of the polymorphisms and PD in all models tested (co-dominant,dominant-effect and recessive-effect (P ＞ 0.05)).Similarly,none of the common haplotypes was associated with a risk for PD(P ＞ 0.05).Conclusion Results show no significant association between the CAST gene polymorphisms and late onset sporadic PD in the present population.