MAPT as a predisposing gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population
Pu Fang
Wenyuan Xu
Chengsi Wu
Min Zhu
Xiaobing Li
Daojun Hong
摘要：A previous study of European Caucasian patients with sporadic amyotrophic lateral sclerosis demonstrated that a polymorphism in the microtubule-associated protein Tau (MAPT) gene was significantly associated with sporadic amyotrophic lateral sclerosis pathogenesis. Here, we tested this association in 107 sporadic amyotrophic lateral sclerosis patients and 100 healthy controls from the Chinese Han population. We screened the mutation-susceptible regions of MAPT-the 3′and 5′untranslated regions as wel as introns 9, 10, 11, and 12-by direct sequencing, and identified 33 genetic variations. Two of these, 105788 A>G in intron 9 and 123972 T>A in intron 11, were not present in the control group. The age of onset in patients with the 105788 A>G and/or the 123972 T>A variant was younger than that in patients without either genetic variation. Moreover, the pa-tients with a genetic variation were more prone to bulbar palsy and breathing difficulties than those with the wild-type genotype. This led to a shorter survival period in patients with a MAPT genetic variant. Our study suggests that the MAPT gene is a potential risk gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population.
机标关键词：Chinese Han populationamyotrophic lateral sclerosisgenetic variationdirect sequencing
资助基金：This project was funded by the National Natural Science Foundation of China, (No.30560042 and 81260194)Jiangxi Provincial Health Bureau of Science and Technology Program, (No.20111028)
论文发表日期：2013-01-01
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：8( 3116-3123 )
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