Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China
文献类型：期刊论文
| 作者 | Wang D1; Zhang DF1; Yu XF5; Long H5; Li YY2; Yao YG[*]1,3; Feng JQ1,2; Li GD1,3; Li XA4 |
| 刊名 | Scientific Reports
 |
| 出版日期 | 2016 |
| 卷号 | 6期号:X页码:e37086 |
| 通讯作者 | yaoyg@mail.kiz.ac.cn |
| 英文摘要 | Leprosy is a chronic infectious and neurological disease caused by Mycobacterium leprae, an unculturable pathogen with massive genomic decay and dependence on host metabolism. We hypothesized that mitochondrial genes PARL and PINK1 would confer risk to leprosy. Thirteen tag SNPs of PARL and PINK1 were analyzed in 3620 individuals with or without leprosy from China. We also sequenced the entire exons of PARL, PINK1 and PARK2 in 80 patients with a family history of leprosy by using the next generation sequencing technology (NGS). We found that PARL SNP rs12631031 conferred a risk to leprosy (Padjusted = 0.019) and multibacillary leprosy (MB, Padjusted = 0.020) at the allelic level. rs12631031 and rs7653061 in PARL were associated with leprosy and MB (dominant model, Padjusted < 0.05) at the genotypic level. PINK1 SNP rs4704 was associated with leprosy at the genotypic level (Padjusted = 0.004). We confirmed that common variants in PARL and PINK1 were associated with leprosy in patients underwent NGS. Furthermore, PARL and PINK1 could physically interact with each other and were involved in the highly connected network formed by reported leprosy susceptibility genes. Together, our results showed that PARL and PINK1 genetic variants are associated with leprosy. |
| 收录类别 | SCI |
| 资助信息 | This study was supported by the National Natural Science Foundation of China (31271346, 81573034) and Yunnan Province (2014FB177). |
| 语种 | 英语 |
| 源URL | [http://159.226.149.26:8080/handle/152453/10674]  |
| 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 & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, 650223, China 2.Department of Dermatology, the First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, 650032, China 3.Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan 650201, China 4.Yuxi City Center for Disease Control and Prevention, Yuxi, Yunnan, 653100, China 5.Wenshan Institute of Dermatology, Wenshan, Yunnan, 663000, China |
| 推荐引用方式 GB/T 7714 | Wang D,Zhang DF,Yu XF,et al. Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China[J]. Scientific Reports,2016,6(X):e37086. |
| APA | Wang D.,Zhang DF.,Yu XF.,Long H.,Li YY.,...&Li XA.(2016).Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China.Scientific Reports,6(X),e37086. |
| MLA | Wang D,et al."Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China".Scientific Reports 6.X(2016):e37086. |
入库方式： OAI收割
来源：昆明动物研究所
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