title: Variant in the 3' region of SNCA associated with Parkinson's disease and serum α-synuclein levels.
abstract: Parkinson's disease (PD) is the second most common neurodegenerative disorder. The presence of Lewy bodies is a major pathological change of PD. α-synuclein is the main component of Lewy bodies and is encoded by the SNCA gene. Mutations in the SNCA gene mainly result in rare familial forms of PD, while genetic variability in the SNCA gene modulates susceptibility to sporadic PD. Recent studies have suggested that levels of α-synuclein in extracellular biological fluid are associated with PD and implicated α-synuclein as a potential biomarker for PD diagnosis and severity. We studied serum α-synuclein concentration and two polymorphic variants of SNCA (Rep1 and rs11931074) in 110 sporadic PD patients and 136 controls. We further explored the influence of the two polymorphisms on the expression levels of serum α-synuclein. Soluble α-synuclein was detected in serum in all subjects, with no statistically significant difference between PD patients and controls (p = 0.611). Different Rep1 alleles and genotypes did not influence the expression of serum α-synuclein. The frequency of allele T of rs11931074 was significantly elevated in PD patients (p = 0.041), and was correlated with decreased serum α-synuclein in both dominant (p = 0.011) and additive (p = 0.008) models of association.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
authors.forename: Yacen
authors.initials: Y
authors.lastname: Hu
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.forename: Jifeng
authors.initials: J
authors.lastname: Guo
authors.forename: Xintian
authors.initials: X
authors.lastname: Wu
authors.forename: Qiying
authors.initials: Q
authors.lastname: Sun
authors.forename: Changhe
authors.initials: C
authors.lastname: Shi
authors.forename: Liang
authors.initials: L
authors.lastname: Hu
authors.forename: Chunyu
authors.initials: C
authors.lastname: Wang
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
authors.forename: Liming
authors.initials: L
authors.lastname: Tan
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.forename: Xinxiang
authors.initials: X
authors.lastname: Yan
authors.forename: Hainan
authors.initials: H
authors.lastname: Zhang
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016631:Lewy Bodies / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000097:blood* / Q000235:genetics*; D018709:Statistics, Nonparametric; D051844:alpha-Synuclein / Q000097:blood* / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; C497604:SNCA protein, human; D051844:alpha-Synuclein