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Exploratory investigation of genetic associations with basal cell carcinoma risk: genome-wide association study in Jeju Island, Korea
DC Field | Value | Language |
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dc.contributor.author | 이지영 | - |
dc.date.accessioned | 2018-05-10T06:46:27Z | - |
dc.date.available | 2018-05-10T06:46:27Z | - |
dc.date.issued | 2014 | - |
dc.identifier.issn | 1513-7368 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/158607 | - |
dc.description.abstract | AIM: 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.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Asian Pacific Organization for Cancer Prevention | - |
dc.relation.isPartOf | ASIAN PACIFIC JOURNAL OF CANCER PREVENTION | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Asian Continental Ancestry Group/genetics* | - |
dc.subject.MESH | Carcinoma, Basal Cell/genetics* | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Genetic Predisposition to Disease | - |
dc.subject.MESH | Genome-Wide Association Study | - |
dc.subject.MESH | Genotype | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Middle Aged | - |
dc.subject.MESH | Polymorphism, Single Nucleotide | - |
dc.subject.MESH | Republic of Korea | - |
dc.subject.MESH | Skin Neoplasms/genetics* | - |
dc.title | Exploratory investigation of genetic associations with basal cell carcinoma risk: genome-wide association study in Jeju Island, Korea | - |
dc.type | Article | - |
dc.contributor.college | Research Institutes | - |
dc.contributor.department | Yonsei Cardiovascular Research Institute | - |
dc.contributor.googleauthor | Byung Min Yun | - |
dc.contributor.googleauthor | Jung-Kook Song | - |
dc.contributor.googleauthor | Ji-Young Lee | - |
dc.identifier.doi | 10.7314/APJCP.2014.15.17.7443 | - |
dc.contributor.localId | A03201 | - |
dc.relation.journalcode | J00255 | - |
dc.identifier.eissn | 2476-762X | - |
dc.identifier.pmid | 25227856 | - |
dc.contributor.alternativeName | Lee, Ji Young | - |
dc.contributor.affiliatedAuthor | Lee, Ji Young | - |
dc.citation.volume | 15 | - |
dc.citation.number | 17 | - |
dc.citation.startPage | 7443 | - |
dc.citation.endPage | 7447 | - |
dc.identifier.bibliographicCitation | ASIAN PACIFIC JOURNAL OF CANCER PREVENTION, Vol.15(17) : 7443-7447, 2014 | - |
dc.identifier.rimsid | 43186 | - |
dc.type.rims | ART | - |
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