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Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk

DC Field Value Language
dc.contributor.author지선하-
dc.contributor.author정금지-
dc.date.accessioned2017-10-26T08:01:19Z-
dc.date.available2017-10-26T08:01:19Z-
dc.date.issued2016-
dc.identifier.issn0016-5085-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/152831-
dc.description.abstractBACKGROUND & AIMS: Known genetic factors explain only a small fraction of genetic variation in colorectal cancer (CRC). We conducted a genome-wide association study to identify risk loci for CRC. METHODS: This discovery stage included 8027 cases and 22,577 controls of East-Asian ancestry. Promising variants were evaluated in studies including as many as 11,044 cases and 12,047 controls. Tumor-adjacent normal tissues from 188 patients were analyzed to evaluate correlations of risk variants with expression levels of nearby genes. Potential functionality of risk variants were evaluated using public genomic and epigenomic databases. RESULTS: We identified 4 loci associated with CRC risk; P values for the most significant variant in each locus ranged from 3.92 × 10(-8) to 1.24 × 10(-12): 6p21.1 (rs4711689), 8q23.3 (rs2450115, rs6469656), 10q24.3 (rs4919687), and 12p13.3 (rs11064437). We also identified 2 risk variants at loci previously associated with CRC: 10q25.2 (rs10506868) and 20q13.3 (rs6061231). These risk variants, conferring an approximate 10%-18% increase in risk per allele, are located either inside or near protein-coding genes that include transcription factor EB (lysosome biogenesis and autophagy), eukaryotic translation initiation factor 3, subunit H (initiation of translation), cytochrome P450, family 17, subfamily A, polypeptide 1 (steroidogenesis), splA/ryanodine receptor domain and SOCS box containing 2 (proteasome degradation), and ribosomal protein S2 (ribosome biogenesis). Gene expression analyses showed a significant association (P < .05) for rs4711689 with transcription factor EB, rs6469656 with eukaryotic translation initiation factor 3, subunit H, rs11064437 with splA/ryanodine receptor domain and SOCS box containing 2, and rs6061231 with ribosomal protein S2. CONCLUSIONS: We identified susceptibility loci and genes associated with CRC risk, linking CRC predisposition to steroid hormone, protein synthesis and degradation, and autophagy pathways and providing added insight into the mechanism of CRC pathogenesis.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherW.B. Saunders-
dc.relation.isPartOfGASTROENTEROLOGY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdult-
dc.subject.MESHAged-
dc.subject.MESHAsian Continental Ancestry Group/genetics*-
dc.subject.MESHBasic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics-
dc.subject.MESHCase-Control Studies-
dc.subject.MESHColorectal Neoplasms/genetics*-
dc.subject.MESHEukaryotic Initiation Factor-3/genetics-
dc.subject.MESHFemale-
dc.subject.MESHGenetic Loci*-
dc.subject.MESHGenetic Predisposition to Disease*-
dc.subject.MESHGenome-Wide Association Study-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHPolymorphism, Single Nucleotide-
dc.subject.MESHQb-SNARE Proteins/genetics-
dc.subject.MESHRibosomal Proteins/genetics-
dc.subject.MESHRisk Factors-
dc.subject.MESHSteroid 17-alpha-Hydroxylase/genetics-
dc.subject.MESHSuppressor of Cytokine Signaling Proteins/genetics-
dc.subject.MESHYoung Adult-
dc.titleIdentification of Susceptibility Loci and Genes for Colorectal Cancer Risk-
dc.typeArticle-
dc.publisher.locationUnited States-
dc.contributor.collegeGraduate School of Public Health-
dc.contributor.departmentGraduate School of Public Health-
dc.contributor.googleauthorChenjie Zeng-
dc.contributor.googleauthorKoichi Matsuda-
dc.contributor.googleauthorWei-Hua Jia-
dc.contributor.googleauthorJiang Chang-
dc.contributor.googleauthorSun-Seog Kweon-
dc.contributor.googleauthorYong-Bing Xiang-
dc.contributor.googleauthorAesun Shin-
dc.contributor.googleauthorSun Ha Jee-
dc.contributor.googleauthorDong-Hyun Kim-
dc.contributor.googleauthorBen Zhang-
dc.contributor.googleauthorQiuyin Cai-
dc.contributor.googleauthorXingyi Guo-
dc.contributor.googleauthorJirong Long-
dc.contributor.googleauthorNan Wang-
dc.contributor.googleauthorRegina Courtney-
dc.contributor.googleauthorZhi-Zhong Pan-
dc.contributor.googleauthorChen Wu-
dc.contributor.googleauthorAtsushi Takahashi-
dc.contributor.googleauthorMin-Ho Shin-
dc.contributor.googleauthorKeitaro Matsuo-
dc.contributor.googleauthorFumihiko Matsuda-
dc.contributor.googleauthorYu-Tang Gao-
dc.contributor.googleauthorJae Hwan Oh-
dc.contributor.googleauthorSoriul Kim-
dc.contributor.googleauthorKeum Ji Jung-
dc.contributor.googleauthorYoon-Ok Ahn-
dc.contributor.googleauthorZefang Ren-
dc.contributor.googleauthorHong-Lan Li-
dc.contributor.googleauthorJie Wu-
dc.contributor.googleauthorJiajun Shi-
dc.contributor.googleauthorWanqing Wen-
dc.contributor.googleauthorGong Yang-
dc.contributor.googleauthorBingshan Li-
dc.contributor.googleauthorBu-Tian Ji-
dc.contributor.googleauthorGenetics and Epidemiology of Colorectal Cancer Consortium (GECCO)-
dc.contributor.googleauthorHermann Brenner-
dc.contributor.googleauthorRobert E. Schoen-
dc.contributor.googleauthorS?bastien K?ry-
dc.contributor.googleauthorColorectal Transdisciplinary (CORECT) Study-
dc.contributor.googleauthorStephen B. Gruber-
dc.contributor.googleauthorFredrick R. Schumacher-
dc.contributor.googleauthorStephanie L. Stenzel-
dc.contributor.googleauthorColon Cancer Family Registry (CCFR)-
dc.contributor.googleauthorGraham Casey-
dc.contributor.googleauthorJohn L. Hopper-
dc.contributor.googleauthorMark A. Jenkins-
dc.contributor.googleauthorHyeong-Rok Kim-
dc.contributor.googleauthorJin-Young Jeong-
dc.contributor.googleauthorJi Won Park-
dc.contributor.googleauthorKazuo Tajima-
dc.contributor.googleauthorSang-Hee Cho-
dc.contributor.googleauthorMichiaki Kubo-
dc.contributor.googleauthorXiao-Ou Shu-
dc.contributor.googleauthorDongxin Lin-
dc.contributor.googleauthorYi-Xin Zeng-
dc.contributor.googleauthorWei Zheng-
dc.identifier.doi10.1053/j.gastro.2016.02.076-
dc.contributor.localIdA03965-
dc.contributor.localIdA03580-
dc.relation.journalcodeJ00917-
dc.identifier.eissn1528-0012-
dc.identifier.pmid26965516-
dc.subject.keywordColon Cancer-
dc.subject.keywordEpidemiology-
dc.subject.keywordSingle Nucleotide Polymorphisms-
dc.subject.keywordeQTL-
dc.contributor.alternativeNameJee, Sun Ha-
dc.contributor.affiliatedAuthorJee, Sun Ha-
dc.citation.volume150-
dc.citation.number7-
dc.citation.startPage1633-
dc.citation.endPage1645-
dc.identifier.bibliographicCitationGASTROENTEROLOGY, Vol.150(7) : 1633-1645, 2016-
dc.date.modified2017-10-24-
dc.identifier.rimsid40461-
dc.type.rimsART-
Appears in Collections:
4. Graduate School of Public Health (보건대학원) > Graduate School of Public Health (보건대학원) > 1. Journal Papers

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