Publications

Detailed Information

Polygenic risk score model for renal cell carcinoma in the Korean population and relationship with lifestyle-associated factors

DC Field Value Language
dc.contributor.authorHong, Joo Young-
dc.contributor.authorHan, Jang Hee-
dc.contributor.authorJeong, Seung Hwan-
dc.contributor.authorKwak, Cheol-
dc.contributor.authorKim, Hyeon Hoe-
dc.contributor.authorJeong, Chang wook-
dc.date.accessioned2024-01-15T00:34:16Z-
dc.date.available2024-01-15T09:34:59Z-
dc.date.issued2024-01-10-
dc.identifier.citationBMC Genomics, Vol.25, no.46ko_KR
dc.identifier.issn1471-2164-
dc.identifier.urihttps://hdl.handle.net/10371/198867-
dc.description.abstractBackground The polygenic risk score (PRS) is used to predict the risk of developing common complex diseases
or cancers using genetic markers. Although PRS is used in clinical practice to predict breast cancer risk, it is more
accurate for Europeans than for non-Europeans because of the sample size of training genome-wide association
studies (GWAS). To address this disparity, we constructed a PRS model for predicting the risk of renal cell carcinoma
(RCC) in the Korean population.
Results Using GWAS analysis, we identified 43 Korean-specific variants and calculated the PRS. Subsequent to
plotting receiver operating characteristic (ROC) curves, we selected the 31 best-performing variants to construct an
optimal PRS model. The resultant PRS model with 31 variants demonstrated a prediction rate of 77.4%. The pathway
analysis indicated that the identified non-coding variants are involved in regulating the expression of genes related to
cancer initiation and progression. Notably, favorable lifestyle habits, such as avoiding tobacco and alcohol, mitigated
the risk of RCC across PRS strata expressing genetic risk.
Conclusion A Korean-specific PRS model was established to predict the risk of RCC in the underrepresented Korean
population. Our findings suggest that lifestyle-associated factors influencing RCC risk are associated with acquired risk
factors indirectly through epigenetic modification, even among individuals in the higher PRS category.
Keywords Polygenic risk score, Genome-wide association study, Renal cell carcinoma, Korean population, Noncoding variant, Epigenetics, Lifestyle-associated factor
ko_KR
dc.description.sponsorshipThis study was supported by a grant from the National R&D Program for
Cancer Control, Ministry of Health and Welfare, Republic of Korea (HA17C0039)
and the Cooperative Research Program of Basic Medical Science and Clinical
Science from Seoul National University College of Medicine (800-20220315).
ko_KR
dc.language.isoenko_KR
dc.publisherBMCko_KR
dc.subjectPolygenic risk score-
dc.subjectGenome-wide association study-
dc.subjectRenal cell carcinoma-
dc.subjectKorean population-
dc.subjectNon-coding variant-
dc.subjectEpigenetics-
dc.subjectLifestyle-associated factor-
dc.titlePolygenic risk score model for renal cell carcinoma in the Korean population and relationship with lifestyle-associated factorsko_KR
dc.typeArticleko_KR
dc.identifier.doi10.1186/s12864-024-09974-wko_KR
dc.citation.journaltitleBMC Genomicsko_KR
dc.language.rfc3066en-
dc.rights.holderThe Author(s)-
dc.date.updated2024-01-14T04:12:18Z-
dc.citation.endpage11ko_KR
dc.citation.number46ko_KR
dc.citation.startpage1ko_KR
dc.citation.volume25ko_KR
Appears in Collections:
Files in This Item:

Altmetrics

Item View & Download Count

  • mendeley

Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.

Share