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Exploratory investigation of genetic associations with basal cell carcinoma risk: genome-wide association study in Jeju Island, Korea

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dc.contributor.author이지영-
dc.date.accessioned2018-05-10T06:46:27Z-
dc.date.available2018-05-10T06:46:27Z-
dc.date.issued2014-
dc.identifier.issn1513-7368-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/158607-
dc.description.abstractAIM: Little is known about the genetic associations with Basal cell carcinoma (BCC) risk in non-Caucasian populations, in which BCC is rare, as in Korea. We here conducted a pilot genome-wide association study (GWAS) in 12 patients and 48 standard controls. METHOD: A total of 263,511 SNPs were analyzed with the Illumina HumanOmni1 Quad v1.0 DNA Analysis BeadChip for cases and Korean HapMap 570K for controls. RESULTS: SNP-based analyses, based on the allele genetic model with adjustment for sex and age showed suggestive associations with BCC risk for 6 SNPs with a P-value (P < 0.0005). However, these associations were not statistically significant after Bonferroni correction: rs1040503, rs2216491, rs13407683, rs4751072, rs9891263, and rs1368474. In addition, results from gene-based analyses showed suggestive associations with BCC risk for 33 candidate genes with a P-value (P <0.0005). Consistent with previous GWAS and replication studies in Caucasian populations, PADI6, RHOU and SLC45A2 were identified as having null associations with BCC (P > 0.05), likely due to the smaller sample size. CONCLUSIONS: Although this was a small-scale negative study, to our knowledge, we have conducted the first GWAS for BCC risk in an Asian population. Further large studies in non-Caucasian populations are required to achieve statistical significance and confirm these findings.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherAsian Pacific Organization for Cancer Prevention-
dc.relation.isPartOfASIAN PACIFIC JOURNAL OF CANCER PREVENTION-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAsian Continental Ancestry Group/genetics*-
dc.subject.MESHCarcinoma, Basal Cell/genetics*-
dc.subject.MESHFemale-
dc.subject.MESHGenetic Predisposition to Disease-
dc.subject.MESHGenome-Wide Association Study-
dc.subject.MESHGenotype-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHPolymorphism, Single Nucleotide-
dc.subject.MESHRepublic of Korea-
dc.subject.MESHSkin Neoplasms/genetics*-
dc.titleExploratory investigation of genetic associations with basal cell carcinoma risk: genome-wide association study in Jeju Island, Korea-
dc.typeArticle-
dc.contributor.collegeResearch Institutes-
dc.contributor.departmentYonsei Cardiovascular Research Institute-
dc.contributor.googleauthorByung Min Yun-
dc.contributor.googleauthorJung-Kook Song-
dc.contributor.googleauthorJi-Young Lee-
dc.identifier.doi10.7314/APJCP.2014.15.17.7443-
dc.contributor.localIdA03201-
dc.relation.journalcodeJ00255-
dc.identifier.eissn2476-762X-
dc.identifier.pmid25227856-
dc.contributor.alternativeNameLee, Ji Young-
dc.contributor.affiliatedAuthorLee, Ji Young-
dc.citation.volume15-
dc.citation.number17-
dc.citation.startPage7443-
dc.citation.endPage7447-
dc.identifier.bibliographicCitationASIAN PACIFIC JOURNAL OF CANCER PREVENTION, Vol.15(17) : 7443-7447, 2014-
dc.identifier.rimsid43186-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Research Institute (부설연구소) > 1. Journal Papers

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