MC1R variants in Chinese Han patients with sporadic Parkinson's disease

被引：4

作者：

Shi, Chang-he ^{[1
]}

Wang, Hui ^{[1
,2
]}

Mao, Cheng-yuan ^{[1
,2
]}

Yang, Jing ^{[1
]}

Song, Bo ^{[1
]}

Liu, Yu-tao ^{[1
]}

Yang, Zhi-hua ^{[1
]}

Luo, Hai-yang ^{[1
,2
]}

Zhang, Shu-yu ^{[1
,2
]}

Wu, Jun ^{[1
]}

Xu, Yu-ming ^{[1
]}

机构：

[1] Zhengzhou Univ, Affiliated Hosp 1, Dept Neurol, 1 Jian She East Rd, Zhengzhou 450000, Henan, Peoples R China

[2] Zhengzhou Univ, Affiliated Hosp 1, Inst Clin Med, Zhengzhou 450000, Henan, Peoples R China

来源：

NEUROBIOLOGY OF AGING | 2016年 / 42卷

关键词：

Parkinson's disease; MC1R; Association; Variant; Chinese population; RISK;

D O I：

10.1016/j.neurobiolaging.2016.02.026

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Recently, a variant p.R160W in the MC1R gene was identified that increased the risk of Parkinson's disease (PD) in Spanish population. To explore whether the MC1R gene variants are associated with sporadic PD in Chinese population, we performed a case-control comparison study for comprehensive MC1R variant screening in 510 Chinese Han patients and 495 healthy controls as ethnically matched controls. We identify 5 nonsynonymous variants, including rs34090186 (p.R67Q), rs2228479 (p.V92M), rs33932559 (p.I120T), rs885479 (p.R163Q), and rs372152373 (p.R223W). However, variants mentioned previously did not show association with PD. Our results suggest that variants in MC1R do not play a major role in PD in the Chinese population. (C) 2016 Elsevier Inc. All rights reserved.

引用

页码：217.e5 / 217.e6

页数：2

共 3 条

[1] Nonsynonymous variants in MC1R are rare in Chinese Parkinson disease cases [J].

Foo, Jia Nee ;

Zhao, Yi ;

Liu, Jianjun ;

Tan, Eng-King .

ANNALS OF NEUROLOGY, 2015, 78 (01) :152-153

[2] Genetic Determinants of Hair Color and Parkinson's Disease Risk [J].

Gao, Xiang ;

Simon, Kelly C. ;

Han, Jiali ;

Schwarzschild, Michael A. ;

Ascherio, Alberto .

ANNALS OF NEUROLOGY, 2009, 65 (01) :76-82

[3] The MC1R Melanoma Risk Variant p.R160W Is Associated with Parkinson Disease [J].

Tell-Marti, Gemma ;

Anton Puig-Butille, Joan ;

Potrony, Miriam ;

Badenas, Celia ;

Mila, Montserrat ;

Malvehy, Josep ;

Jose Marti, Maria ;

Ezquerra, Mario ;

Fernandez-Santiago, Ruben ;

Puig, Susana .

ANNALS OF NEUROLOGY, 2015, 77 (05) :889-894

← 1 →