title: Hypomethylation of SNCA in blood of patients with sporadic Parkinson's disease.
abstract: SNCA is a pathogenic gene identified in rare familial PD, and over-expression of SNCA was suggested in the pathogenesis of familial and sporadic PD. Rep1 polymorphism of SNCA was associated with susceptibility to sporadic PD and SNCA expression in intro and in vivo. Hypomethylation in SNCA intron-1 was associated with increased SNCA expression and was observed in postmortem brains of patients with sporadic PD. We studied the methylation status of SNCA intron-1, SNCA mRNA levels and Rep1 genotypes in PBMCs of 100 sporadic PD patients and 95 controls and explored the relationship between DNA methylation, mRNA expression and Rep1 genotypes. Hypomethylation of SNCA intron-1 was detected in PBMCs of PD patients, and DNA methylation levels were associated with Rep1 polymorphism. The shorter allele was associated with higher level of SNCA intron-1 methylation, and genotypes carrying the shorter allele showed significantly higher methylation level of SNCA intron-1 than genotypes carrying the longer allele. However, SNCA mRNA levels were not associated with disease status, Rep1 polymorphism or DNA methylation of SNCA intron-1 in our study.
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
authors: San-xi
authors: SX
authors: Ai
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
authors: Qian
authors: Q
authors: Xu
authors: Department of Geriatric Neurology, Xiangya Hospital, Central South University, Changsha, China.
authors: Ya-cen
authors: YC
authors: Hu
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
authors: Cheng-yuan
authors: CY
authors: Song
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; Neurodegenerative Disorders Research Center, Central South University, Changsha, China.
authors: Ji-feng
authors: JF
authors: Guo
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; Neurodegenerative Disorders Research Center, Central South University, Changsha, China.
authors: Lu
authors: L
authors: Shen
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
authors: Chun-rong
authors: CR
authors: Wang
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
authors: Ri-li
authors: RL
authors: Yu
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; Neurodegenerative Disorders Research Center, Central South University, Changsha, China.
authors: Xin-xiang
authors: XX
authors: Yan
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; Neurodegenerative Disorders Research Center, Central South University, Changsha, China; National Laboratory of Medical Genetics of China, Central South University, Changsha, China. Electronic address: bstang7398@163.com.
authors: Bei-sha
authors: BS
authors: Tang
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000368:Aged; D019175:DNA Methylation / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D051844:alpha-Synuclein / Q000097:blood / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human; D012333:RNA, Messenger; D051844:alpha-Synuclein
keywords: Methylation; PBMCs; Parkinson's disease; Rep1; SNCA hypomethylation; SNCA intron 1