@article{44e2f26b60494147b138c9a2723b269d,
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, χ2 = 4.906). Our data support the role of the polyglutamine length variants in the MASH1 gene in PD susceptibility.",
keywords = "Parkinson's disease, Polyglutamine length variant, The mammalian achaete-scute homolog 1 gene",
author = "Hao Deng and Huarong Yang and Weidong Le and Xiong Deng and Hongbo Xu and Wei Xiong and Shaihong Zhu and Wenjie Xie and Zhi Song and Joseph Jankovic",
note = "Funding Information: This study was supported by the Fund of Hunan Province for Distinguished Young Scholar (09JJ1005), Sheng Hua Scholars Program and Outstanding Youth Foundation of Central South University, China (H.D.), National Natural Science Foundation of China (30871351, 30971534), Program for New Century Excellent Talents in University of Ministry of Education of PR China (NCET-080563), the Project Sponsored by the Scientific Research Foundation for the Returned Overseas Chinese Scholars, State Education Ministry (H.D.), Aid Program for Science and Technology Innovative Research Team in Higher Educational Institutions of Hunan Province, the Diana Helis Henry Medical Research Foundation (W.L.) and the National Parkinson Foundation to the Baylor College of Medicine Center of Excellence (J.J.). The authors thank the participating patients and the investigators at the Parkinson{\textquoteright}s Disease Center and Movement Disorders Clinic, Baylor College of Medicine, for their cooperation and their efforts in collecting the genetic information and DNA specimens.",
year = "2010",
month = feb,
day = "19",
doi = "10.1016/j.bbrc.2010.01.061",
language = "English (US)",
volume = "392",
pages = "548--550",
journal = "Biochemical and Biophysical Research Communications",
issn = "0006-291X",
publisher = "Academic Press",
number = "4",
}