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Polygenic risk score model for renal cell carcinoma in the Korean population and relationship with lifestyle-associated factors
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Hong, Joo Young | - |
dc.contributor.author | Han, Jang Hee | - |
dc.contributor.author | Jeong, Seung Hwan | - |
dc.contributor.author | Kwak, Cheol | - |
dc.contributor.author | Kim, Hyeon Hoe | - |
dc.contributor.author | Jeong, Chang wook | - |
dc.date.accessioned | 2024-01-15T00:34:16Z | - |
dc.date.available | 2024-01-15T09:34:59Z | - |
dc.date.issued | 2024-01-10 | - |
dc.identifier.citation | BMC Genomics, Vol.25, no.46 | ko_KR |
dc.identifier.issn | 1471-2164 | - |
dc.identifier.uri | https://hdl.handle.net/10371/198867 | - |
dc.description.abstract | Background 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.sponsorship | This 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.iso | en | ko_KR |
dc.publisher | BMC | ko_KR |
dc.subject | Polygenic risk score | - |
dc.subject | Genome-wide association study | - |
dc.subject | Renal cell carcinoma | - |
dc.subject | Korean population | - |
dc.subject | Non-coding variant | - |
dc.subject | Epigenetics | - |
dc.subject | Lifestyle-associated factor | - |
dc.title | Polygenic risk score model for renal cell carcinoma in the Korean population and relationship with lifestyle-associated factors | ko_KR |
dc.type | Article | ko_KR |
dc.identifier.doi | 10.1186/s12864-024-09974-w | ko_KR |
dc.citation.journaltitle | BMC Genomics | ko_KR |
dc.language.rfc3066 | en | - |
dc.rights.holder | The Author(s) | - |
dc.date.updated | 2024-01-14T04:12:18Z | - |
dc.citation.endpage | 11 | ko_KR |
dc.citation.number | 46 | ko_KR |
dc.citation.startpage | 1 | ko_KR |
dc.citation.volume | 25 | ko_KR |
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