title: Association study of human MTH1 Ile45Thr polymorphism with sporadic Parkinson's disease.
abstract: Human MTH1, an oxidized purine nucleoside triphosphatase, hydrolyzes 8-oxo-dGTP thereby preventing its misincorporation into DNA. The present study was designed to investigate a possible link between the MTH1 Ile45Thr polymorphism and the development of sporadic Parkinson disease (PD). This case-control study consisted of 106 PD patients and 135 unrelated controls. MTH1 polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The results showed that Ile45/Thr45 heterozygote and Thr45 allele tended to be more frequent in sporadic PD, although statistically not significant (0.085 vs. 0.044, corrected p = 0.591 and 0.052 vs. 0.022, p = 0.080, respectively). Stratification analysis by gender showed that Ile45/Thr45 heterozygote tended to be more frequent in male PD patients than in male controls (0.113 vs. 0.038, corrected p = 0.480). The male PD patients exhibited a borderline statistically significant higher frequency of the Thr45 allele than the controls (0.073 vs. 0.019, corrected p = 0.050). These results suggested to us that the Thr45 allele of MTH1 might be associated with sporadic PD in the Chinese male population.
authors.affiliation: Faculty of Preventive Medicine, Medical College, Wuhan University of Science and Technology, Wuhan, PR China. jianggaofeng@yahoo.com.cn
authors.forename: Gaofeng
authors.initials: G
authors.lastname: Jiang
authors.forename: Lei
authors.initials: L
authors.lastname: Xu
authors.forename: Lin
authors.initials: L
authors.lastname: Wang
authors.forename: Shizhen
authors.initials: S
authors.lastname: Song
authors.forename: Changcai
authors.initials: C
authors.lastname: Zhu
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016009:Chi-Square Distribution; D002681:China / Q000208:ethnology; D045643:DNA Repair Enzymes / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007532:Isoleucine / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D011110:Polymorphism, Genetic; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D012737:Sex Factors; D013912:Threonine / Q000235:genetics*
chemical_list: D007532:Isoleucine; D013912:Threonine; D010744:Phosphoric Monoester Hydrolases; C078207:8-oxodGTPase; D045643:DNA Repair Enzymes