Novel Genome-Wide Interactions Mediated via BOLL and EDNRA Polymorphisms in Intracranial Aneurysmopen access
- Authors
- Hong, Eun Pyo; Youn, Dong Hyuk; Kim, Bong Jun; Lee, Jae Jun; Nam, Sehyeon; Yoo, Hyojong; Kim, Heung Cheot; Rhim, Jong Kook; Park, Jeong Jin; Jeon, Jin Pyeong
- Issue Date
- Jul-2023
- Publisher
- 대한신경외과학회
- Keywords
- Boule; Endothelin receptor type A; Genome-wide association study; Intracranial aneurysm
- Citation
- Journal of Korean Neurosurgical Society, v.66, no.4, pp 409 - 417
- Pages
- 9
- Indexed
- SCIE
SCOPUS
KCI
- Journal Title
- Journal of Korean Neurosurgical Society
- Volume
- 66
- Number
- 4
- Start Page
- 409
- End Page
- 417
- URI
- https://scholarworks.bwise.kr/erica/handle/2021.sw.erica/114561
- DOI
- 10.3340/jkns.2022.0026
- ISSN
- 2005-3711
1598-7876
- 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.
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