Authors: Sheng Deng Xiong Deng Zhi Song Xiaofei Xiu Yi Guo Jingjing Xiao Hao Deng
Publish Date: 2015/09/16
Volume: 53, Issue: 7, Pages: 5025-5029
Abstract
To examine the association between the sphingomyelin phosphodiesterase 1 acid lysosomal SMPD1 gene and Parkinson’s disease PD in Han Chinese from Central South part of Mainland China we performed systematic genetic analysis in 502 Chinese Han patients with PD and 637 gender age and ethnicitymatched normal controls from Central South part of the Mainland China We identified 11 single nucleotide variants and LeuAla Val repeat variants in the SMPD1 gene in our large cohort Two novel missense variants c638A C pH213P and c1673T C pL558P and a rare known missense variant c1805G A pR602H rs370129081 were identified in three sporadic PD cases None of these three variants were observed in controls Additionally casecontrol analysis showed association between LeuAla Val repeat variants in SMPD1 and Chinese Han patients with PD P = 0015 χ 2 = 8451 Our data provide supportive evidence that some genetic variants in SMPD1 increase the risk of PD in the Chinese Han populationThis study was supported by the National Natural Science Foundation of China 81271921 81441033 “531” Program of Central South University China HD Grant for the Foster Key Subject of the Third Xiangya Hospital Clinical Laboratory Diagnostics HD and Zhishan Lead Project of the Third Xiangya Hospital HD The authors thank the participating patients and the investigators at the Third Xiangya Hospital Central South University for their cooperation and their efforts in collecting the genetic information and DNA specimens
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