Parkinson＇s disease （PD） is the second most common neurodegenerative disorder and has an elusive etiology. It is likely multifactorial, and genetic defects contribute to its pathogenesis. At least 25 genetic loci a...Parkinson＇s disease （PD） is the second most common neurodegenerative disorder and has an elusive etiology. It is likely multifactorial, and genetic defects contribute to its pathogenesis. At least 25 genetic loci and 20 monogenic genes have been identified in monogenic PD. Recessive F-box protein 7 gene （FBX07） mutations reportedly cause hereditary parkinsonism. To explore the roles of four paralogs （FBX02, FBX06, FBX012, and FBX041） in PD development, their variants （rs9614, rs28924120, rs6442117, and rs61733550, respectively） were analyzed in 502 Han Chinese patients with PD and 556 age, gender, and ethnicity-matched normal participants in China's Mainland. Statistically significant differences in genotypic and allelic frequencies were detected only in the FBX02 variant rs9614 （P = 0.001 and 0.023, respectively; odds ratio 0.819, 95% confidence interval 0.690-0.973） between patients and controls. These results suggest that the FBX02 variant rs9614 C allele may decrease the PD risk in mainland Han Chinese and may be a biomarker for PD.展开更多
基金supported by the National Key Research and Development Program of China (2016YFC1306604)the National Basic Research Development Program of China (2014CB542400)+5 种基金the National Natural Science Foundation of China (81271921 and 81670216)the Natural Science Foundation of Hunan Province, China (2015JJ4088 and 2016JJ2166)the Construction Fund for Key Subjects of the Third Xiangya Hospital of Central South University (Clinical Laboratory Diagnostics)the New Xiangya Talent Project of the Third Xiangya Hospital of Central South University (20150301)Mittal Students' Innovative Project of Central South University (15MX50 and 15MX53)the National-level College Students' Innovative Training Plan Program of China (201610533288, 201610533290 and 201610533292)
文摘Parkinson＇s disease （PD） is the second most common neurodegenerative disorder and has an elusive etiology. It is likely multifactorial, and genetic defects contribute to its pathogenesis. At least 25 genetic loci and 20 monogenic genes have been identified in monogenic PD. Recessive F-box protein 7 gene （FBX07） mutations reportedly cause hereditary parkinsonism. To explore the roles of four paralogs （FBX02, FBX06, FBX012, and FBX041） in PD development, their variants （rs9614, rs28924120, rs6442117, and rs61733550, respectively） were analyzed in 502 Han Chinese patients with PD and 556 age, gender, and ethnicity-matched normal participants in China's Mainland. Statistically significant differences in genotypic and allelic frequencies were detected only in the FBX02 variant rs9614 （P = 0.001 and 0.023, respectively; odds ratio 0.819, 95% confidence interval 0.690-0.973） between patients and controls. These results suggest that the FBX02 variant rs9614 C allele may decrease the PD risk in mainland Han Chinese and may be a biomarker for PD.
