title: Examination of the MASH1 gene in patients with Parkinson's disease.
abstract: Several genetic variants in transcription factor genes have been reported to be associated with Parkinson's disease (PD). The mammalian achaete-scute homolog 1 gene (MASH1) controls development of the locus coeruleus. Furthermore, polyglutamine length variation in MASH1 gene appears to confer protective effects against PD, at least in Japanese population. To determine whether genetic variation in the coding region of the MASH1 gene plays a role in the etiology of PD Caucasian patients, we analyzed the whole coding region of the MASH1 gene in PD patients from North America. Case-control analysis showed nominal association between polyglutamine length variation in MASH1 and Caucasian PD, 8% of PD vs 13% of normal controls had 13 CAG repeats (p=0.027, chi2=4.906). Our data support the role of the polyglutamine length variants in the MASH1 gene in PD susceptibility.
authors.affiliation: Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, PR China.
authors.forename: Hao
authors.initials: H
authors.lastname: Deng
authors.forename: Huarong
authors.initials: H
authors.lastname: Yang
authors.forename: Weidong
authors.initials: W
authors.lastname: Le
authors.forename: Xiong
authors.initials: X
authors.lastname: Deng
authors.forename: Hongbo
authors.initials: H
authors.lastname: Xu
authors.forename: Wei
authors.initials: W
authors.lastname: Xiong
authors.forename: Shaihong
authors.initials: S
authors.lastname: Zhu
authors.forename: Wenjie
authors.initials: W
authors.lastname: Xie
authors.forename: Zhi
authors.initials: Z
authors.lastname: Song
authors.forename: Joseph
authors.initials: J
authors.lastname: Jankovic
mesh_terms: D000368:Aged; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D010455:Peptides / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D010455:Peptides; C065500:ASCL1 protein, human; C097188:polyglutamine