Novel Genome-Wide Interactions Mediated via BOLL and EDNRA Polymorphisms in Intracranial Aneurysm
DC Field | Value | Language |
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dc.contributor.author | Hong, Eun Pyo | - |
dc.contributor.author | Youn, Dong Hyuk | - |
dc.contributor.author | Kim, Bong Jun | - |
dc.contributor.author | Lee, Jae Jun | - |
dc.contributor.author | Nam, Sehyeon | - |
dc.contributor.author | Yoo, Hyojong | - |
dc.contributor.author | Kim, Heung Cheot | - |
dc.contributor.author | Rhim, Jong Kook | - |
dc.contributor.author | Park, Jeong Jin | - |
dc.contributor.author | Jeon, Jin Pyeong | - |
dc.date.accessioned | 2023-09-04T05:31:34Z | - |
dc.date.available | 2023-09-04T05:31:34Z | - |
dc.date.issued | 2023-07 | - |
dc.identifier.issn | 2005-3711 | - |
dc.identifier.issn | 1598-7876 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/erica/handle/2021.sw.erica/114561 | - |
dc.description.abstract | Objective : The association between boule (BOLL) and endothelin receptor type A (EDNRA) loci and intracranial aneurysm (IA) formation has been reported via genome-wide association studies. We sought to identify genome-wide interactions involving BOLL and EDNRA loci for IA in a Korean adult cohort.Methods : Genome-wide pairwise interaction analyses of BOLL and EDNRA involving 250 patients with IA and 296 controls were performed using the additive effect model after adjusting for confounding factors.Results : Among 512575 single-nucleotide polymorphisms (SNPs), 23 and 11 common SNPs suggested a genome-wide interaction threshold (p<1.25x10-8) involving rs700651 (BOLL) and rs6841581 (EDNRA). Rather than singe SNP effect of BOLL or EDNRA on IA development, they showed a synergistic effect on IA formation via multifactorial pair-wise interactions. The rs1105980 of PTCH1 gene showed the most significant interaction with rs700651 (natural log-transformed odds ratio [lnOR], 1.53; p=6.41x10-11). The rs74585958 of RYK gene interacted strongly with rs6841581 (lnOR,-19.91; p=1.64x10-9). Although, there was no direct interaction between BOLL and EDNRA variants, two EDNRA-interacting gene variants of TNIK (rs11925024 and rs1231) and FTO (rs9302654), and one BOLL-interacting METTL4 gene variant (rs549315) exhibited marginal interaction with BOLL gene.Conclusion : BOLL or EDNRA may have a synergistic effect on IA formation via multifactorial pair-wise interactions. | - |
dc.format.extent | 9 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | 대한신경외과학회 | - |
dc.title | Novel Genome-Wide Interactions Mediated via BOLL and EDNRA Polymorphisms in Intracranial Aneurysm | - |
dc.type | Article | - |
dc.publisher.location | 대한민국 | - |
dc.identifier.doi | 10.3340/jkns.2022.0026 | - |
dc.identifier.scopusid | 2-s2.0-85165662772 | - |
dc.identifier.wosid | 001038266400007 | - |
dc.identifier.bibliographicCitation | Journal of Korean Neurosurgical Society, v.66, no.4, pp 409 - 417 | - |
dc.citation.title | Journal of Korean Neurosurgical Society | - |
dc.citation.volume | 66 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 409 | - |
dc.citation.endPage | 417 | - |
dc.type.docType | Article | - |
dc.identifier.kciid | ART002970819 | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
dc.relation.journalResearchArea | Neurosciences & Neurology | - |
dc.relation.journalResearchArea | Surgery | - |
dc.relation.journalWebOfScienceCategory | Clinical Neurology | - |
dc.relation.journalWebOfScienceCategory | Surgery | - |
dc.subject.keywordPlus | ASSOCIATION | - |
dc.subject.keywordPlus | RISK | - |
dc.subject.keywordPlus | SUSCEPTIBILITY | - |
dc.subject.keywordPlus | GENETICS | - |
dc.subject.keywordPlus | AGE | - |
dc.subject.keywordAuthor | Boule | - |
dc.subject.keywordAuthor | Endothelin receptor type A | - |
dc.subject.keywordAuthor | Genome-wide association study | - |
dc.subject.keywordAuthor | Intracranial aneurysm | - |
dc.identifier.url | https://www.scopus.com/record/display.uri?eid=2-s2.0-85165662772&origin=inward&txGid=2f19fe721addd8535bd4f53d36c2287f#indexed-keywords | - |
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