Common variants of OPA1 conferring genetic susceptibility to leprosy in Han Chinese from Southwest China

CORC > 昆明动物研究所 > 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 > 重大疾病机理的遗传学

	Common variants of OPA1 conferring genetic susceptibility to leprosy in Han Chinese from Southwest China
	Xiang YL 1,2; Zhang DF 2,3; Wang D 2; Li YY[]1; Yao YG[]2,3
刊名	JOURNAL OF DERMATOLOGICAL SCIENCE
	2015
卷号	80 期号:2 页码:133–141
关键词	Expression Genetic variants Leprosy Mitochondria OPA1 Susceptibility
通讯作者	yyeli2000@126.com ; yaoyg@mail.kiz.ac.cn
合作状况	其它
英文摘要	Background: Leprosy is an ancient chronic infection caused by Mycobacterium leprae. Onset of leprosy was highly affected by host nutritional condition and energy production, (partially) due to genomic loss and parasitic life style of M. leprae. The optic atrophy 1 (OPA1) gene plays an essential role in mitochondria, which function in cellular energy supply and innate immunity. Objective: To investigate the potential involvement of OPA1 in leprosy. Methods: We analyzed 7 common genetic variants of OPA1 in 1110 Han Chinese subjects with and without leprosy, followed by mRNA expression profiling and protein-protein interaction (PPI) network analysis. Results: We observed positive associations between OPA1 variants rs9838374 (P-genotypic = 0.003) and rs414237 (P-genotypic = 0.002) with lepromatous leprosy. expression quantitative trait loci (eQTL) analysis showed that the leprosy-related risk allele C of rs414237 is correlated with lower OPA1 mRNA expression level. Indeed, we identified a decrease of OPA1 mRNA expression in both with patients and cellular model of leprosy. In addition, the PPI analysis showed that OPA1 protein was actively involved in the interaction network of M. leprae induced differentially expressed genes. Conclusion: Our results indicated that OPA1 variants confer risk of leprosy and may affect OPA1 expression, mitochondrial function and antimicrobial pathways.
收录类别	SCI
资助信息	This work was supported by the National Natural Science Foundation of China(31271346 and 81260237) and Yunnan Province (2011CI046).
语种	英语
内容类型	期刊论文
源URL	[http://159.226.149.26:8080/handle/152453/9438]
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.Department of Dermatology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China 2.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 3.Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan, 650201, China
推荐引用方式 GB/T 7714	Xiang YL,Zhang DF,Wang D,et al. Common variants of OPA1 conferring genetic susceptibility to leprosy in Han Chinese from Southwest China[J]. JOURNAL OF DERMATOLOGICAL SCIENCE,2015,80(2):133–141.
APA	Xiang YL,Zhang DF,Wang D,Li YY[],&Yao YG[].(2015).Common variants of OPA1 conferring genetic susceptibility to leprosy in Han Chinese from Southwest China.JOURNAL OF DERMATOLOGICAL SCIENCE,80(2),133–141.
MLA	Xiang YL,et al."Common variants of OPA1 conferring genetic susceptibility to leprosy in Han Chinese from Southwest China".JOURNAL OF DERMATOLOGICAL SCIENCE 80.2(2015):133–141.