title: A single-nucleotide polymorphism of miR-196a-2 and vitiligo: an association study and functional analysis in a Han Chinese population.
abstract: Recent evidence indicates that oxidative stress and genetic factors play an important role in the pathogenesis of vitiligo. SNPs in miRNAs involved in oxidative stress could potentially influence the development of vitiligo. In this case-control study, we investigated the association of a functional SNP of rs11614913 in miR-196a-2 with risk of vitiligo. A significantly lower risk of vitiligo was associated with the rs11614913 miR-196a-2 CC genotype (adjusted OR, 0.77; CI, 0.60-0.98). In addition, TYRP1 gene expression was considerably down-regulated by the rs11614913 C allele in miR-196a-2, which lowered the levels of intracellular reactive oxygen species (ROS) and reduced the proportion of early apoptosis in human melanocytes in response to H2 O2 treatment. Our data suggest that the rs11614913 C allele in miR-196a-2 confers potential protection against oxidative effects on human melanocytes through the modulation of the target gene, TYRP1, which may account for the decreased risk of vitiligo in this study population.
authors: Department of Dermatology Xijing Hospital, Fourth Military Medical University, Xi'an, China.
authors: Ye
authors: Y
authors: Huang
authors: Xiuli
authors: X
authors: Yi
authors: Zhe
authors: Z
authors: Jian
authors: Chao
authors: C
authors: Wei
authors: Shuli
authors: S
authors: Li
authors: Chuan
authors: C
authors: Cai
authors: Ping
authors: P
authors: Zhang
authors: Kai
authors: K
authors: Li
authors: Sen
authors: S
authors: Guo
authors: Ling
authors: L
authors: Liu
authors: Qiong
authors: Q
authors: Shi
authors: Tianwen
authors: T
authors: Gao
authors: Chunying
authors: C
authors: Li
mesh_terms: D000328:Adult; D017209:Apoptosis / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002470:Cell Survival / Q000235:genetics; D002681:China; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D042541:Intracellular Space / Q000378:metabolism; D008297:Male; D008544:Melanocytes / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D008562:Membrane Glycoproteins / Q000378:metabolism; D035683:MicroRNAs / Q000235:genetics*; D008957:Models, Genetic; D010088:Oxidoreductases / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017382:Reactive Oxygen Species / Q000378:metabolism; D014820:Vitiligo / Q000235:genetics*
chemical_list: C542543:MIRN196 microRNA, human; D008562:Membrane Glycoproteins; D035683:MicroRNAs; D017382:Reactive Oxygen Species; D010088:Oxidoreductases; C489799:TYRP1 protein, human