Pooled analysis of genome-wide association studies of cervical intraepithelial neoplasia 3 (cin3) identifies a new susceptibility locus
文献类型:期刊论文
作者 | Chen, Dan1,2,3; Enroth, Stefan3; Liu, Han1,2; Sun, Yang4; Wang, Huibo5; Yu, Min4; Deng, Lian6; Xu, Shuhua6,7,8,9; Gyllensten, Ulf3 |
刊名 | Oncotarget
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出版日期 | 2016-07-05 |
卷号 | 7期号:27页码:42216-42224 |
关键词 | Cervical intraepithelial neoplasia 3 Genome-wide association study Genetic variants Expression quantitative trait locus Human leukocyte antigen |
ISSN号 | 1949-2553 |
DOI | 10.18632/oncotarget.9916 |
通讯作者 | Chen, dan(simpledandan1981@163.com) |
英文摘要 | Recent genome-wide association studies (gwass) in subjects of european descent have identified associations between cervical cancer risk and three independent loci as well as multiple classical human leukocyte antigen (hla) alleles at 6p21.3. to search for novel loci associated with development of cervical cancer, we performed a pooled analysis of data from two gwass by imputing over 10 million genetic variants and 424 classical hla alleles, for 1,553 intraepithelial neoplasia 3 (cin3), 81 cervical cancer and 4,442 controls from the swedish population. notable findings were validated in an independent study of 961 patients (827 with cin3 and 123 with cervical cancer) and 1,725 controls. our data provided increased support for previously identified loci at 6p21.3 (rs9271898, p = 1.2 x 10(-24); rs2516448, 1.1 x 10(-15); and rs3130196, 2.3 x 10(-9), respectively) and also confirmed associations with reported classical hla alleles including hla-b*07:02, -b*15:01, -drb1*13:01, -drb1*15:01, -dqa1*01:03, -dqb1*06:03 and -dqb1*06:02. in addition, we identified and subsequently replicated an independent signal at rs73730372 at 6p21.3 (odds ratio = 0.60, 95% confidence interval = 0.54-0.67, p = 3.0 x 10(-19)), which was found to be an expression quantitative trait locus (eqtl) of both hla-dqa1 and hla-dqb1. this is one of the strongest common genetic protective variants identified so far for cin3. we also found hla-c*07:02 to be associated with risk of cin3. the present study provides new insights into pathogenesis of cin3. |
WOS关键词 | HUMAN-PAPILLOMAVIRUS ; IMMUNE-RESPONSES ; CANCER ; POPULATION ; HLA ; CARCINOGENESIS ; INFECTION ; DISEASE ; GENE |
WOS研究方向 | Oncology ; Cell Biology |
WOS类目 | Oncology ; Cell Biology |
语种 | 英语 |
WOS记录号 | WOS:000380942600099 |
出版者 | IMPACT JOURNALS LLC |
URI标识 | http://www.irgrid.ac.cn/handle/1471x/2376242 |
专题 | 中国科学院大学 |
通讯作者 | Chen, Dan |
作者单位 | 1.Shanghai Jiao Tong Univ, Sch Med, Xin Hua Hosp, Minist Educ, Shanghai, Peoples R China 2.Shanghai Jiao Tong Univ, Sch Med, Xin Hua Hosp, Shanghai Key Lab Childrens Environm Hlth, Shanghai, Peoples R China 3.Uppsala Univ, Dept Immunol Genet & Pathol, Sci Life Lab Uppsala, Uppsala, Sweden 4.Yunnan Univ, Sch Life Sci, Lab Biochem & Mol Biol, Kunming, Peoples R China 5.Nanjing Med Univ, Dept Neurosurg, Affiliated Hosp 1, Nanjing, Jiangsu, Peoples R China 6.Chinese Acad Sci, Key Lab Computat Biol, Max Planck Independent Res Grp Populat Genom, CAS MPG Partner Inst Computat Biol PICB,Shanghai, Shanghai, Peoples R China 7.Univ Chinese Acad Sci, Beijing, Peoples R China 8.Shanghai Tech Univ, Sch Life Sci & Technol, Shanghai, Peoples R China 9.Collaborat Innovat Ctr Genet & Dev, Shanghai, Peoples R China |
推荐引用方式 GB/T 7714 | Chen, Dan,Enroth, Stefan,Liu, Han,et al. Pooled analysis of genome-wide association studies of cervical intraepithelial neoplasia 3 (cin3) identifies a new susceptibility locus[J]. Oncotarget,2016,7(27):42216-42224. |
APA | Chen, Dan.,Enroth, Stefan.,Liu, Han.,Sun, Yang.,Wang, Huibo.,...&Gyllensten, Ulf.(2016).Pooled analysis of genome-wide association studies of cervical intraepithelial neoplasia 3 (cin3) identifies a new susceptibility locus.Oncotarget,7(27),42216-42224. |
MLA | Chen, Dan,et al."Pooled analysis of genome-wide association studies of cervical intraepithelial neoplasia 3 (cin3) identifies a new susceptibility locus".Oncotarget 7.27(2016):42216-42224. |
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来源:中国科学院大学
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