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. 2016 Jun:42:217.e5-6.
doi: 10.1016/j.neurobiolaging.2016.02.026. Epub 2016 Mar 3.

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

Chang-He Shi  1 , Hui Wang  2 , Cheng-Yuan Mao  2 , Jing Yang  1 , Bo Song  1 , Yu-Tao Liu  1 , Zhi-Hua Yang  1 , Hai-Yang Luo  2 , Shu-Yu Zhang  2 , Jun Wu  1 , Yu-Ming Xu  3
Affiliations

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

Chang-He Shi et al. Neurobiol Aging. 2016 Jun.

Abstract

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.

Keywords: Association; Chinese population; MC1R; Parkinson's disease; Variant.

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