Analysis of the BTBD9 and HTR2C variants in Chinese Han patients with Tourette syndrome.
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.