Genome-wide association study identifies risk variants for lichen planus in patients with hepatitis C virus infection
Genome-wide association study identifies risk variants for lichen planus in patients with hepatitis C virus infection
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全基因组关联研究确定丙型肝炎病毒感染患者扁平苔藓的风险变异
DOI：
10.1016/j.cgh.2016.12.029
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发表时间：
2017
期刊：
影响因子：
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通讯作者：
Tanaka Y.
中科院分区：
文献类型：
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作者：
Nagao Y;Nishida N;Toyo-Oka L;Kawaguchi A;Amoroso A;Carrozzo M;Sata M;Mizokami M;Tokunaga K;Tanaka Y.
背景与目的扁平苔藓是一种慢性炎症性皮肤黏膜疾病，与丙型肝炎病毒（HCV）感染密切相关。我们进行了一个全基因组关联研究（GWAS），以确定与HCV相关的扁平苔藓的遗传变异。MethodsWe进行了一个GWAS的261例丙型肝炎病毒感染治疗的三级医疗中心在日本从2007年10月至2013年1月，共有71扁平苔藓和190正常口腔粘膜。我们在意大利的一家医疗中心对38例HCV相关扁平苔藓患者和7例正常口腔粘膜HCV感染患者的GWAS中验证了我们的发现。结果NRP 2（rs 884000）和IGFBP 4（rs 538399）的单核苷酸多态性与HCV相关扁平苔藓的风险相关（P< 1 × 10−4）。我们还发现了HLA-DR/DQ基因（rs 9461799）单核苷酸多态性与HCV相关扁平苔藓易感性之间的关联。次要等位基因rs 884000、rs 538399和rs 9461799的优势比为3.25（95%置信区间，1.95-5.41），0.40（95%置信区间，0.25-0.63）和2.15（95%置信区间，1.41-3.28），分别。ConclusionsIn一个GWAS的日本HCV感染患者，我们复制以前报道的HLA II类基因多态性和扁平苔藓的风险之间的关联。我们还发现NRP 2和IGFBP 4基因座的单核苷酸多态性分别增加和减少扁平苔藓的风险。这些遗传变异可用于识别有患扁平苔藓风险的丙型肝炎病毒感染患者。
Background & AimsThere is a close relationship between hepatitis C virus (HCV) infection and lichen planus, a chronic inflammatory mucocutaneous disease. We performed a genome-wide association study (GWAS) to identify genetic variants associated with HCV-related lichen planus.MethodsWe conducted a GWAS of 261 patients with HCV infection treated at a tertiary medical center in Japan from October 2007 through January 2013; a total of 71 had lichen planus and 190 had normal oral mucosa. We validated our findings in a GWAS of 38 patients with HCV-associated lichen planus and 7 HCV-infected patients with normal oral mucosa treated at a medical center in Italy.ResultsSingle-nucleotide polymorphisms inNRP2(rs884000) andIGFBP4(rs538399) were associated with risk of HCV-associated lichen planus (P< 1 × 10−4). We also found an association between a single-nucleotide polymorphism in the HLA-DR/DQ genes (rs9461799) and susceptibility to HCV-associated lichen planus. The odds ratios for the minor alleles of rs884000, rs538399, and rs9461799 were 3.25 (95% confidence interval, 1.95–5.41), 0.40 (95% confidence interval, 0.25–0.63), and 2.15 (95% confidence interval, 1.41–3.28), respectively.ConclusionsIn a GWAS of Japanese patients with HCV infection, we replicated associations between previously reported polymorphisms in HLA class II genes and risk for lichen planus. We also identified single-nucleotide polymorphisms inNRP2andIGFBP4loci that increase and reduce risk of lichen planus, respectively. These genetic variants might be used to identify patients with HCV infection who are at risk for lichen planus.