[Association of two polymorphisms in ubiquitin carboxy-terminal hydrolase-L1 gene with Parkinson's disease in Shanghai].
OBJECTIVE
To explore the relationship of polymorphisms in the ubiquitin carboxy-terminal hydrolase-L1 (UCH-L1) gene with Parkinson's disease(PD)in Shanghai Han Nationality.


METHODS
The distribution of a Serine18Tyrosine polymorphism in exon 3(C/A) and a Serine89Phenylalanine polymorphism in exon 4(C/T)of UCH-L1 gene were detected in 164 PD cases and 172 healthy controls, using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method.


RESULTS
(1)The C allelic frequency in exon 3 of UCH-L1 gene in PD patients(62.2%) was significantly higher than that of the healthy controls(51.7%) (OR=1.53, P=0.006), as was the C/C genotype(OR=1.90, P=0.008). (2)There was no significant difference in the distribution of the C/T allele and genotypes in exon 4 between PD patients and healthy controls.


CONCLUSIONS
The C allele in exon 3 of UCH-L1 gene might be one of the risk factors for PD in Shanghai Han Nationality, but the polymorphisms of C/T in exon 4 showed no association with the onset of PD.
Hao
Yi-xin
YX
Department of Laboratory Diagnosis, Changhai Hospital, the Second Military Medical University, Shanghai, 200433 People's Republic of China. hao.yixin@ yahoo.com.cn
Zhang
Jun
J
Fang
Chao-ping
CP
Zhang
Qian
Q
Zhang
Jian-rong
JR
Shen
Qian
Q
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002681:China; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics; D043222:Ubiquitin Thiolesterase / Q000235:genetics*
D043222:Ubiquitin Thiolesterase