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Asian-specific 3'UTR variant in CDKN2B associated with risk of pituitary adenoma
DC Field | Value | Language |
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dc.contributor.author | 김선호 | - |
dc.contributor.author | 김세훈 | - |
dc.contributor.author | 김의현 | - |
dc.contributor.author | 장종희 | - |
dc.contributor.author | 윤선진 | - |
dc.date.accessioned | 2022-12-22T05:12:26Z | - |
dc.date.available | 2022-12-22T05:12:26Z | - |
dc.date.issued | 2022-11 | - |
dc.identifier.issn | 0301-4851 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/192331 | - |
dc.description.abstract | Background: Previous genomewide association studies (GWASs), single nucleotide polymorphisms (SNPs) on cyclin-dependent kinase inhibitor 2 A (CDKN2A), cyclin-dependent kinase inhibitor 2B (CDKN2B), and cyclin-dependent kinase inhibitor 2B antisense RNA1 (CDKN2B-AS1) were reported as risk loci for glioma, a subgroup of the brain tumor. To further characterize this association with the risk of brain tumors in a Korean population, we performed a fine-mapping association study of CDKN2A, CDKN2B, and CDKN2B-AS1. Methods and results: A total of 17 SNPs were selected and genotyped in 1,439 subjects which were comprised of 959 patients (pituitary adenoma 335; glioma 324; meningioma 300) and 480 population controls (PCs). We discovered that a 3'untranslated region (3'UTR) variant, rs181031884 of CDKN2B (Asian-specific variant), had significant association with the risk of pituitary adenoma (PA) (Odds ratio = 0.58, P = 0.00003). Also, rs181031884 appeared as an independent causal variant among the significant variants in CDKN2A and CDKN2B, and showed dose-dependent effects on PA. Conclusions: Although further studies are needed to verify the impact of this variant on PA susceptibility, our results may help to understand CDKN2B polymorphism and the risk of PA. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Reidel | - |
dc.relation.isPartOf | MOLECULAR BIOLOGY REPORTS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | 3' Untranslated Regions / genetics | - |
dc.subject.MESH | Cyclin-Dependent Kinase Inhibitor p15 / genetics | - |
dc.subject.MESH | Cyclin-Dependent Kinase Inhibitor p16 / genetics | - |
dc.subject.MESH | Genetic Predisposition to Disease | - |
dc.subject.MESH | Glioma* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Pituitary Neoplasms* / genetics | - |
dc.subject.MESH | Polymorphism, Single Nucleotide / genetics | - |
dc.subject.MESH | RNA, Long Noncoding* / genetics | - |
dc.title | Asian-specific 3'UTR variant in CDKN2B associated with risk of pituitary adenoma | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurosurgery (신경외과학교실) | - |
dc.contributor.googleauthor | Byeong Ju Youn | - |
dc.contributor.googleauthor | Hyun Sub Cheong | - |
dc.contributor.googleauthor | Suhg Namgoong | - |
dc.contributor.googleauthor | Lyoung Hyo Kim | - |
dc.contributor.googleauthor | In Ki Baek | - |
dc.contributor.googleauthor | Jeong-Hyun Kim | - |
dc.contributor.googleauthor | Seon-Jin Yoon | - |
dc.contributor.googleauthor | Eui Hyun Kim | - |
dc.contributor.googleauthor | Se Hoon Kim | - |
dc.contributor.googleauthor | Jong Hee Chang | - |
dc.contributor.googleauthor | Sun Ho Kim | - |
dc.contributor.googleauthor | Hyoung Doo Shin | - |
dc.identifier.doi | 10.1007/s11033-022-07796-1 | - |
dc.contributor.localId | A00560 | - |
dc.contributor.localId | A00610 | - |
dc.contributor.localId | A00837 | - |
dc.contributor.localId | A03470 | - |
dc.relation.journalcode | J02249 | - |
dc.identifier.eissn | 1573-4978 | - |
dc.identifier.pmid | 36097105 | - |
dc.identifier.url | https://link.springer.com/article/10.1007/s11033-022-07796-1 | - |
dc.subject.keyword | Cyclin-dependent kinase inhibitor 2B (CDKN2B) | - |
dc.subject.keyword | Korean population | - |
dc.subject.keyword | Pituitary adenoma (PA) | - |
dc.subject.keyword | Single nucleotide polymorphism (SNP) | - |
dc.contributor.alternativeName | Kim, Sun Ho | - |
dc.contributor.affiliatedAuthor | 김선호 | - |
dc.contributor.affiliatedAuthor | 김세훈 | - |
dc.contributor.affiliatedAuthor | 김의현 | - |
dc.contributor.affiliatedAuthor | 장종희 | - |
dc.citation.volume | 49 | - |
dc.citation.number | 11 | - |
dc.citation.startPage | 10339 | - |
dc.citation.endPage | 10346 | - |
dc.identifier.bibliographicCitation | MOLECULAR BIOLOGY REPORTS, Vol.49(11) : 10339-10346, 2022-11 | - |
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