Alpha synuclein promoter and risk of Parkinson's disease: microsatellite and allelic size variability

• Published in: Neuroscience letters Vol. 336; no. 1; pp. 70 - 72
• Main Authors: Tan, Eng-King, Tan, Christopher, Shen, Hui, Chai, Anthea, Lum, Sau-Ying, Teoh, Mei-Lin, Yih, Yuan, Wong, Meng-Cheong, Zhao, Yi
• Format: Journal Article
• Language: English
• Published: Shannon Elsevier Ireland Ltd 09-01-2003; Elsevier
• Subjects: Adult; Age of Onset; Aged; Aged, 80 and over; Alleles; Alpha synuclein; Biological and medical sciences; Case-Control Studies; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Dinucleotide Repeats - genetics; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Medical sciences; Microsatellite; Microsatellite Repeats - genetics; Middle Aged; Nerve Tissue Proteins - genetics; Neurology; Parkinson Disease - genetics; Parkinson's disease; Polymerase Chain Reaction - methods; Polymorphism; Polymorphism, Genetic; Promoter Regions, Genetic; Risk Factors; Synucleins; Microsatellite; Alpha synuclein; Parkinson's disease; Polymorphism; Human; Nervous system diseases; Transcription promoter; Parkinson disease; Synuclein; Cerebral disorder; Microsatellite DNA; Central nervous system disease; Degenerative disease; Extrapyramidal syndrome
• ISSN: 0304-3940; 1872-7972
• DOI: 10.1016/S0304-3940(02)01178-3

Polymorphism of the alpha synuclein promoter region (non-amyloid component of plaques (NACP)-Rep1) is associated with an increased risk of Parkinson's disease (PD) in three separate studies. We studied NACP-Rep1 polymorphism in two independent case control studies in our population. In study one, 104 PD and 104 age, gender and race matched controls; and in study two, 102 PD and 102 age, gender and race matched controls were examined separately. The results of both studies were analyzed independent of one another. We found three polymorphic alleles (designated 0, 1, 2). In study one, the frequency of allele 2 was significantly higher in PD patients as compared to healthy controls (0.37 versus 0.23,
P=0.01,
X
2=9.98). In study two, the frequency of allele 2 was similar between PD and controls (0.31 versus 0.33,
P=1.00,
X
2=0.30). There was a non-significant higher allele 2 frequency in PD when both studies were analyzed together (0.34 versus 0.28,
P=0.20,
X
2=3.4). No significant differences of the various genotypes between PD and controls were found. However there were differences of the mixed dinucleotide repeats sequences for similar homozygous genotypes. Variability of the microsatellite region and potential interacting factors that could affect alpha synuclein gene transcription should be further examined.