{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T18:11:09Z","timestamp":1761156669041,"version":"3.37.3"},"reference-count":40,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,4,18]],"date-time":"2019-04-18T00:00:00Z","timestamp":1555545600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81773520","81302491"],"award-info":[{"award-number":["81773520","81302491"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molecular Carcinogenesis"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genetic factors play important roles in colorectal carcinogenesis. This study was aimed to evaluate the effects of gene expression\u2010related copy number variations (CNVs) on the risk of colorectal cancer in Chinese. Expression Quantitative Trait Locus (eQTL) mapping was conducted to explore the most regulatable gene expressions by CNVs among the whole genome based on publicly available data. Then a case\u2010control study was performed to evaluate the associations between copy numbers of the most regulatable genes and colorectal cancer. The influence of the target CNVs on the expression of corresponding gene and protein was verified in colorectal tissue, and the biological effects of these CNVs on cell\u2010cycle arrest and apoptosis of colon cancer cell lines were further detected. The eQTL revealed the most significant association between CNV of HM3_CNP_342 and gene expressions of human leukocyte antigen (<jats:italic>HLA<\/jats:italic>)<jats:italic>\u2010DQA1<\/jats:italic> and <jats:italic>HLA\u2010DQB1<\/jats:italic> among the whole genome. The later case\u2010control study found that amplified <jats:italic>HLA\u2010DQB1<\/jats:italic> was inversely associated with colorectal cancer risk (odds ratio\u2009=\u20090.73; 95% confidence interval: 0.58\u20100.93), especially among those with a family history of cancer. The positive association between amplified <jats:italic>HLA\u2010DQB1<\/jats:italic> and upregulation of gene and protein was validated in colorectal tissue. In addition, overexpression of <jats:italic>HLA\u2010DQB1<\/jats:italic> in dendritic cells promoted cell\u2010cycle arrest and apoptosis of cocultured SW480 and HCT116 cell lines, and vice versa. Our study suggests that the amplified copy number of <jats:italic>HLA\u2010DQB1<\/jats:italic> is associated with lower risk of colorectal cancer and able to induce the apoptosis of colon cancer cells, which implies the potential of <jats:italic>HLA<\/jats:italic> class II in cancer predisposition and immunotherapy.<\/jats:p>","DOI":"10.1002\/mc.23015","type":"journal-article","created":{"date-parts":[[2019,4,19]],"date-time":"2019-04-19T04:04:53Z","timestamp":1555646693000},"page":"1324-1333","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Genome\u2010wide expression profiling\u2010based copy number variations and colorectal cancer risk in Chinese"],"prefix":"10.1002","volume":"58","author":[{"given":"Ke","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Epidemiology and Biostatistics, Ministry of Education Key Laboratory of Environment and Health, School of Public Health, Tongji Medical 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