SNP rs7684318 of the alpha-synuclein gene is associated with Parkinson's disease in the Han Chinese population.

Mutations in the alpha-synuclein (SNCA) gene have been shown to be responsible for a rare familial form of Parkinson's disease (PD). Furthermore, polymorphic variants in multiple regions of the gene have been associated with susceptibility to idiopathic PD in different populations. Previous studies in Japanese have found a strong association between idiopathic PD and the single-nucleotide polymorphism (SNP) rs7684318, which is located within an intron of the SNCA gene. Our aim was to verify these findings and to further explore the nature of the association in a subset of Han Chinese PD patients. A case-control study of the SNP rs7684318, comprising 332 PD patients and 300 healthy controls, was carried out in Han Chinese populations from two centers in mainland China. The rs7684318 polymorphism was determined by PCR-restriction fragment length polymorphism (PCR-RFLP) analysis. The SNP rs7684318 of the SNCA gene showed a strong association with PD (P<0.01). Among our PD patients, mean age at disease onset and gender did not differ significantly between rs7684318 carriers and non-carriers. Our findings suggested that the SNP rs7684318 (T>C) transition of the SNCA gene contributes to PD susceptibility in Chinese Han population, which is consistent with the earlier study form Japan.

Yu L ，Xu P ，He X ，Hu F ，Lin Z ，Zhu M ，Liu Z ，He L ，Xu Y ... -  《-》

Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease.

Mizuta I ，Satake W ，Nakabayashi Y ，Ito C ，Suzuki S ，Momose Y ，Nagai Y ，Oka A ，Inoko H ，Fukae J ，Saito Y ，Sawabe M ，Murayama S ，Yamamoto M ，Hattori N ，Murata M ，Toda T ... -  《HUMAN MOLECULAR GENETICS》

alpha-Synuclein and Parkinson disease susceptibility.

Winkler S ，Hagenah J ，Lincoln S ，Heckman M ，Haugarvoll K ，Lohmann-Hedrich K ，Kostic V ，Farrer M ，Klein C ... -  《-》

Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population.

Myhre R ，Toft M ，Kachergus J ，Hulihan MM ，Aasly JO ，Klungland H ，Farrer MJ ... -  《-》

Identification of a risk haplotype of the alpha-synuclein gene in Japanese with sporadic Parkinson's disease.

alpha-Synuclein is one of the main components of Lewy bodies, a pathological marker of Parkinson's disease (PD). Certain missense mutations of the alpha-synuclein gene cause familial PD, but the role of the gene in sporadic PD is still controversial. We scrutinized polymorphisms of the alpha-synuclein gene in a Japanese population and investigated their associations with sporadic cases of PD. The 5' flanking region to intron 2 of the alpha-synuclein gene (3.8 kb) and two polymorphisms in intron 4 previously reported in Caucasian sporadic cases of PD were analyzed in 185 sporadic PD and 191 controls. Five novel single nucleotide polymorphisms (SNPs), 16 reported SNPs, and one reported polynucleotide polymorphism (PNP) were found. Most of the polymorphisms examined were in linkage disequilibrium. Significant associations with PD were found in 15 of 21 SNPs, especially in intron 1 (IVS1+155 TmAn PNP and the IVS1+719 C>T SNP, P < 0.0001). Haplotype analysis showed that T10A7-A-A and T11A6-G-G haplotypes at three loci (IVS1+155 - IVS1+273 - IVS1+608) were strongly negative and positive risk factors of sporadic PD, respectively (odds ratios were 0.23 [95% confidence interval, 0.16-0.32] and 1.51 [95% confidence interval, 1.29-1.75]). In conclusion, our findings indicate that genetic variations of the alpha-synuclein gene affect the development of sporadic PD.

Kobayashi H ，Ujike H ，Hasegawa J ，Yamamoto M ，Kanzaki A ，Sora I ... -  《MOVEMENT DISORDERS》