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Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.

DC Field Value Language
dc.contributor.author지선하-
dc.date.accessioned2015-12-28T11:10:03Z-
dc.date.available2015-12-28T11:10:03Z-
dc.date.issued2014-
dc.identifier.issn0020-7136-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/138840-
dc.description.abstractGenome-wide association studies (GWAS) of colorectal cancer (CRC) have been conducted primarily in European descendants. In a GWAS conducted in East Asians, we first analyzed approximately 1.7 million single-nucleotide polymorphisms (SNPs) in four studies with 1,773 CRC cases and 2,642 controls. We then selected 66 promising SNPs for replication and genotyped them in three independent studies with 3,612 cases and 3,523 controls. Five SNPs were further evaluated using data from four additional studies including up to 3,290 cases and 4,339 controls. SNP rs7229639 in the SMAD7 gene was found to be associated with CRC risk with an odds ratio (95% confidence interval) associated with the minor allele (A) of 1.22 (1.15-1.29) in the combined analysis of all 11 studies (p = 2.93 × 10(-11) ). SNP rs7229639 is 2,487 bp upstream from rs4939827, a risk variant identified previously in a European-ancestry GWAS in relation to CRC risk. However, these two SNPs are not correlated in East Asians (r(2)  = 0.008) nor in Europeans (r(2)  = 0.146). The CRC association with rs7229639 remained statistically significant after adjusting for rs4939827 as well as three additional CRC risk variants (rs58920878, rs12953717 and rs4464148) reported previously in this region. SNPs rs7229639 and rs4939827 explained approximately 1% of the familial relative risk of CRC in East Asians. This study identifies a new CRC risk variant in the SMAD7 gene, further highlighting the significant role of this gene in the etiology of CRC.-
dc.description.statementOfResponsibilityopen-
dc.format.extent948~955-
dc.relation.isPartOfINTERNATIONAL JOURNAL OF CANCER-
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.MESHAlleles-
dc.subject.MESHAsian Continental Ancestry Group/genetics-
dc.subject.MESHCase-Control Studies-
dc.subject.MESHChina-
dc.subject.MESHColorectal Neoplasms/ethnology*-
dc.subject.MESHColorectal Neoplasms/genetics*-
dc.subject.MESHFemale-
dc.subject.MESHGenetic Predisposition to Disease-
dc.subject.MESHGenome-Wide Association Study*-
dc.subject.MESHGenotype-
dc.subject.MESHHumans-
dc.subject.MESHJapan-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHOdds Ratio-
dc.subject.MESHPolymorphism, Single Nucleotide-
dc.subject.MESHPrincipal Component Analysis-
dc.subject.MESHRepublic of Korea-
dc.subject.MESHRisk-
dc.subject.MESHSingapore-
dc.subject.MESHSmad7 Protein/genetics*-
dc.titleGenome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.-
dc.typeArticle-
dc.contributor.collegeGraduate School of Public Health (보건대학원)-
dc.contributor.departmentGraduate School of Public Health (보건대학원)-
dc.contributor.googleauthorBen Zhang-
dc.contributor.googleauthorWei Hua Jia-
dc.contributor.googleauthorKeitaro Matsuo-
dc.contributor.googleauthorAesun Shin-
dc.contributor.googleauthorYong Bing Xiang-
dc.contributor.googleauthorKoichi Matsuda-
dc.contributor.googleauthorSun Ha Jee-
dc.contributor.googleauthorDong Hyun Kim-
dc.contributor.googleauthorPeh Yean Cheah-
dc.contributor.googleauthorZefang Ren-
dc.contributor.googleauthorQiuyin Cai-
dc.contributor.googleauthorJirong Long-
dc.contributor.googleauthorJiajun Shi-
dc.contributor.googleauthorWanqing Wen-
dc.contributor.googleauthorGong Yang-
dc.contributor.googleauthorBu Tian Ji-
dc.contributor.googleauthorZhi Zhong Pan-
dc.contributor.googleauthorFumihiko Matsuda-
dc.contributor.googleauthorYu Tang Gao-
dc.contributor.googleauthorJae Hwan Oh-
dc.contributor.googleauthorYoon Ok Ahn-
dc.contributor.googleauthorMichiaki Kubo-
dc.contributor.googleauthorLai Fun Thean-
dc.contributor.googleauthorEun Jung Park-
dc.contributor.googleauthorHong Lan Li-
dc.contributor.googleauthorJi Won Park-
dc.contributor.googleauthorJaeseong Jo-
dc.contributor.googleauthorJin Young Jeong-
dc.contributor.googleauthorSatoyo Hosono-
dc.contributor.googleauthorYusuke Nakamura-
dc.contributor.googleauthorXiao Ou Shu-
dc.contributor.googleauthorYi Xin Zeng-
dc.contributor.googleauthorWei Zheng-
dc.identifier.doi10.1002/ijc.28733-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA03965-
dc.relation.journalcodeJ01092-
dc.identifier.eissn1097-0215-
dc.identifier.pmid24448986-
dc.subject.keywordGWAS-
dc.subject.keywordGenome-wide association study-
dc.subject.keywordSMAD7-
dc.subject.keywordcolorectal cancer-
dc.subject.keywordepidemiology-
dc.subject.keywordgenetic susceptibility-
dc.subject.keywordsingle-nucleotide polymorphisms-
dc.contributor.alternativeNameJee, Sun Ha-
dc.contributor.affiliatedAuthorJee, Sun Ha-
dc.citation.volume135-
dc.citation.number4-
dc.citation.startPage948-
dc.citation.endPage955-
dc.identifier.bibliographicCitationINTERNATIONAL JOURNAL OF CANCER, Vol.135(4) : 948-955, 2014-
dc.identifier.rimsid54957-
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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