Association of the LRRK2 genetic polymorphisms with leprosy in Han Chinese from Southwest China
文献类型：期刊论文
| 作者 | Wang D1; Xu L1,2; Lv L1,2; Yao YG[*]1; Su LY1,2; Fan Y1,2; Zhang DF1,2; Bi R1,2; Yu D1; Zhang W1 |
| 刊名 | GENES AND IMMUNITY
 |
| 出版日期 | 2015 |
| 卷号 | 16期号:2页码:112-119 |
| 通讯作者 | ygyaozh@gmail.com |
| 合作状况 | 其它 |
| 英文摘要 | Leprosy is a chronic infectious and neurological disease that is caused by infection of Mycobacterium leprae (M. leprae). A recent genome-wide association study indicated a suggestive association of LRRK2 genetic variant rs1873613 with leprosy in Chinese population. To validate this association and further identify potential causal variants of LRRK2 with leprosy, we genotyped 13 LRRK2 variants in 548 leprosy patients and 1078 healthy individuals from Yunnan Province and (re-)analyzed 3225 Han Chinese across China. Variants rs1427267, rs3761863, rs1873613, rs732374 and rs7298930 were significantly associated with leprosy per se and/or paucibacillary leprosy (PB). Haplotype A-G-A-C-A was significantly associated with leprosy per se (P = 0.018) and PB (P = 0.020). Overexpression of the protective allele (Thr2397) of rs3761863 in HEK293 cells led to a significantly increased nuclear factor of activated T-cells' activity compared with allele Met2397 after lipopolysaccharides stimulation. Allele Thr2397 could attenuate 1-methyl-4-phenyl-1, 2, 3, 6-tetrahydropyridine-induced autophagic activity in U251 cells. These data suggest that the protective effect of LRRK2 variant p.M2397T on leprosy might be mediated by increasing immune response and decreasing neurotoxicity after M. leprae loading. Our findings confirm that LRRK2 is a susceptible gene to leprosy in Han Chinese population. |
| 收录类别 | SCI |
| 资助信息 | This study was supported by the National Natural Science Foundation of China (31271346 and 30925021) and the Ministry of Science and Technology of China (2011CB910902). |
| 语种 | 英语 |
| WOS记录号 | WOS:000350736100002 |
| 公开日期 | 2015-05-08 |
| 源URL | [http://159.226.149.42:8088/handle/152453/8323]  |
| 专题 | 昆明动物研究所_重大疾病机理的遗传学 昆明动物研究所_动物模型与人类重大疾病机理重点实验室 |
| 作者单位 | 1.Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China 2.Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan, China 3.Yuxi City Center for Disease Control and Prevention, Yuxi, Yunnan, China 4.Department of Dermatology, the First Affiliated Hospital of Kunming Medical College, Kunming, Yunnan, China |
| 推荐引用方式 GB/T 7714 | Wang D,Xu L,Lv L,et al. Association of the LRRK2 genetic polymorphisms with leprosy in Han Chinese from Southwest China[J]. GENES AND IMMUNITY,2015,16(2):112-119. |
| APA | Wang D.,Xu L.,Lv L.,Yao YG[*].,Su LY.,...&Li YY.(2015).Association of the LRRK2 genetic polymorphisms with leprosy in Han Chinese from Southwest China.GENES AND IMMUNITY,16(2),112-119. |
| MLA | Wang D,et al."Association of the LRRK2 genetic polymorphisms with leprosy in Han Chinese from Southwest China".GENES AND IMMUNITY 16.2(2015):112-119. |
入库方式： OAI收割
来源：昆明动物研究所
浏览0
下载0
收藏0
其他版本
除非特别说明，本系统中所有内容都受版权保护，并保留所有权利。