Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population

Authors

  • Qi-Ying Sun MD,

    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
    Search for more papers by this author
    • The first two authors contributed equally to this work.

  • Ji-Feng Guo MD,

    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
    2. Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China
    Search for more papers by this author
    • The first two authors contributed equally to this work.

  • Lei Wang MD,

    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
    Search for more papers by this author
  • Ren-He Yu PhD,

    1. School of Public Health, Central South University, Changsha, Hunan, People's Republic of China
    Search for more papers by this author
  • Xing Zuo MD,

    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
    Search for more papers by this author
  • Ling-Yan Yao MD,

    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
    Search for more papers by this author
  • Qian Pan PhD,

    1. National Lab of Medical Genetics of China, Changsha, Hunan, People's Republic of China
    Search for more papers by this author
  • Kun Xia PhD,

    1. National Lab of Medical Genetics of China, Changsha, Hunan, People's Republic of China
    Search for more papers by this author
  • Bei-Sha Tang MD

    Corresponding author
    1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China
    2. Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China
    3. National Lab of Medical Genetics of China, Changsha, Hunan, People's Republic of China
    • Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People's Republic of China
    Search for more papers by this author

  • Potential conflict of interest: Nothing to report.

Abstract

An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common GBA mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age- and sex-matched controls. In the PD cohort, 11 patients were found carrying a heterozygous GBA mutation and all of them had the L444P mutation. Heterozygous GBA mutations were detected none in controls. The GBA gene L444P mutation was detected at a significantly higher frequency among PD patients (11/402 = 2.74%), when compared with the control group (0/413): P = 0.0007. To evaluate the possible role of the GBA gene L444P mutation in PD in Ashkenazi Jewish and non-Jewish populations, we conducted a meta-analysis on the topic. In the Chinese population, the GBA gene L444P mutation was detected at a significantly higher frequency among PD patients, when compared with the control group: Z = 3.83, P = 0.0001, OR = 8.42, confidence interval = 95%, 2.83–25.06. In the non-Jewish populations, the difference was obviously significant: Z = 5.76, P < 0.00001, OR = 8.82, confidence interval = 95%, 4.21–18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population. © 2010 Movement Disorder Society

Ancillary