A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome- wide association study in Han Chinese is replicated in a Japanese population
A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome- wide association study in Han Chinese is replicated in a Japanese population
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DOI：
10.1038/jhg.2016.50
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发表时间：
2016-09-01
影响因子：
3.5
通讯作者：
Masuzaki, Hideaki
中科院分区：
文献类型：
--
作者：
Miura, Kiyonori;Mishima, Hiroyuki;Masuzaki, Hideaki
本研究在日本人群中调查了中国汉族人群中浸润性宫颈癌与4个宫颈癌易感基因座（4 q12处的rs 13117307、17 q12处的rs 8067378、6p21.32处的rs 4282438和rs 9277952）之间的相关性。人类白细胞抗原（HLA）-DPB 1等位基因也被调查，其与宫颈癌的风险在日本人口。在收到书面知情同意书后，招募了214名无关的日本浸润性宫颈癌女性和288名无癌症的日本女性，并获得了DNA样本（研究方案经长崎大学机构审查委员会批准）。4个单核苷酸多态性中，rs 8067378与浸润性宫颈癌有显著相关性（P=0.0071）。在隐性模型下，rs 8067378的次要等位基因G有助于浸润性宫颈癌的风险（比值比=2.92，95%置信区间= 1.40-6.36; P=0.0021）。在日本人群中，HLA-DPB 1等位基因与宫颈癌风险之间没有相关性。总之，我们第一次表明，据我们所知，中国汉族人群中浸润性宫颈癌风险增加与rs 8067378之间的关联在日本人群中得到了复制。此外，rs 8067378 GG基因型的日本女性是浸润性宫颈癌的候选高危人群。
In this study, associations between invasive cervical cancer and four cervical cancer susceptibility loci (rs13117307 at 4q12, rs8067378 at 17q12, and rs4282438 and rs9277952 at 6p21.32) in the Han Chinese population were investigated in a Japanese population. Human leukocyte antigen (HLA)-DPB1 alleles were also investigated for their association with cervical cancer risk in the Japanese population. After receiving written informed consent, 214 unrelated Japanese women with invasive cervical cancer and 288 cancer-free Japanese women were recruited, and DNA samples were obtained (study protocol approved by Institutional Review Board of Nagasaki University). Of the four single-nucleotide polymorphisms, rs8067378 showed a significant association with invasive cervical cancer (P=0.0071). Under a recessive model, the minor allele G of rs8067378 contributed to the risk of invasive cervical cancer (odds ratio=2.92, 95% confidence interval = 1.40-6.36; P=0.0021). No association was detected between HLA-DPB1 alleles and cervical cancer risk in the Japanese population. In conclusion, we show for the first time, to the best of our knowledge, that an association between increased risk of invasive cervical cancer and rs8067378 in the Han Chinese population is replicated in a Japanese population. In addition, Japanese women with the GG genotype of rs8067378 are a candidate high-risk group for invasive cervical carcinoma.