A single-nucleotide polymorphism of miR-196a-2 and vitiligo: an association study and functional analysis in a Han Chinese population
A single-nucleotide polymorphism of miR-196a-2 and vitiligo: an association study and functional analysis in a Han Chinese population
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miR-196a-2单核苷酸多态性与白癜风：中国汉族人群的关联研究和功能分析
DOI：
10.1111/pcmr.12081
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发表时间：
2013-05-01
影响因子：
4.3
通讯作者：
Li, Chunying
中科院分区：
文献类型：
--
作者：
Huang, Ye;Yi, Xiuli;Li, Chunying
近年来的研究表明，氧化应激和遗传因素在白癜风的发病机制中起重要作用。参与氧化应激的miRNAs中的SNPs可能会影响白癜风的发展。在这项病例对照研究中，我们调查了miR-196 a-2中rs 11614913的功能性SNP与白癜风风险的关系。白癜风风险显著降低与rs 11614913 miR-196 a-2 CC基因型相关（校正OR，0.77; CI，0.600.98）。此外，TYRP 1基因表达被miR-196 a-2中的rs 11614913 C等位基因显著下调，这降低了细胞内活性氧（ROS）的水平，并降低了人类黑素细胞对H2 O2处理的早期凋亡比例。我们的数据表明，miR-196 a-2中的rs 11614913 C等位基因通过调节靶基因TYRP 1对人类黑素细胞的氧化作用具有潜在的保护作用，这可能是本研究人群中白癜风风险降低的原因。
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 casecontrol 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, 0.600.98). 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 H2O2 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.