ABSTRACT
<p><b>OBJECTIVE</b>To investigate the possible association of IVS5-5G>A polymorphism, positioned in the upstream region of exon 5 of PINK1 gene with the risk for sporadic late onset Parkinson disease (LOPD) in Chinese.</p><p><b>METHODS</b>Intronic regulatory sequence analysis was performed using the web-based in-silico analysis. The authors performed an association study using a case-control series (comprising 382 LOPD patients and 336 controls, Chinese of Han ancestry). Genotyping was performed by PCR-based denaturing high performance liquid chromatography (DHPLC) combined with sequencing analyses. Allele and genotype frequencies were compared by the Chi-square test.</p><p><b>RESULTS</b>In-silico analysis showed that the intronic IVS5-5G>A polymorphism was located within acceptor site of exon 5 and may be the functional single polymorphism (SNP) in the regulatory region with impact on the splicing of PINK1 gene. Those result yielded statistical significant evidence for the association of PINK1 IVS5-5G>A polymorphism with risk for typical PD in Chinese Han population (OR=1.95, 95%CI: 1.29-2.94, P=0.0012). Homozygote of A allele may have increased risk for LOPD (OR=2.45, 95%CI: 1.27-4.72, P=0.009).</p><p><b>CONCLUSION</b>The authors provide the first evidence that the common genetic variation PINK1 IVS5-5G>A may contribute to the risk of LOPD in Chinese population.</p>
Subject(s)
Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Age Distribution , Age of Onset , Alleles , Asian People , Genetics , Base Sequence , Exons , Genetics , Genetic Predisposition to Disease , Genetics , Genotype , Molecular Sequence Data , Parkinson Disease , Genetics , Polymorphism, Genetic , Protein Kinases , Genetics , Sex DistributionABSTRACT
Recently,more and more attention have been focused on the role of genetics in the pathogenesis of Parkinson disease.DJ1 gene is a newly discovered gene related to Parkinson disease.Here,the structure,tissue location and pathological properties of the DJ-1 Protein are reviewed.The DJ1 mutant protein and its association with early onset and sporadic Parkinson disease are also discussed in the review.
ABSTRACT
OBJECTIVE: To investigate the clinical significance of plasma homocysteine Hcy in patients with coronary atherosclerosis. METHODS Plasma Hcy levels of 85 patients with coronary atherosclerosis and 68 normal controls were determined by fluorescence polarization immunoassay. RESULTS The mean levels of plasma Hcy were (9.31+/-3.80)&mgr;mol/L in normal controls and (13.39+/-6.06)&mgr;mol/L in patients with coronary atherosclerosis. That was (11.36+/-3.86)&mgr;mol/L in the patients with micro-pathological changes of coronary artery, (13.32+/-6.09)&mgr;mol/L with single-vessel disease,(13.39+/-4.92)&mgr;mol/L with double-vessel disease, and (18.23+/-8.98)&mgr;mol/L with three-vessel disease by coronary angiography. Statistically, the mean plasma Hcy concentrations in male and female patients was higher than that in the corresponding control subjects(13.77+/-6.68 compared with 10.50+/-4.07, 11.50+/-3.58 compared with 7.80+/-2.85 &mgr;mol/L,P<0.001 respectively). CONCLUSION The patients with coronary atherosclerosis present hyperhomocysteinemia is very important to determine plasma homocysteine for diagnosis and therapy in the patients with coronary heart disease.