Evidence map›Paper›PMID 38200428›Full record

ArticleBMC genomics2024

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

Joo Young Hong, Jang Hee Han, Seung Hwan Jeong, Cheol Kwak, Hyeon Hoe Kim, Chang Wook Jeong

Open access · goldAbstract read
In one paragraph

Article in BMC genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.7field-weighted citation impact, top 33% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 2 countries.

Joo Young HongBiomedical Research Institute, Seoul National University Hospital, Seoul, Republic of Korea.
Jang Hee HanDepartment of Urology, Seoul National University Hospital, Seoul, Republic of Korea.
Seung Hwan JeongDepartment of Urology, Seoul National University Hospital, Seoul, Republic of Korea.
Cheol KwakDepartment of Urology, Seoul National University Hospital, Seoul, Republic of Korea.
Hyeon Hoe KimDepartment of Urology, Seoul National University Hospital, Seoul, Republic of Korea.
Chang Wook JeongDepartment of Urology, Seoul National University Hospital, Seoul, Republic of Korea. drboss@snu.ac.kr.
Seoul National University · KRSeoul National University Hospital · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe 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.

resultsUsing 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.

conclusionA 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.

Indexed as

Carcinoma, Renal CellKidney NeoplasmsGenetic Risk ScoreGenome-Wide Association StudyHumansLife StyleRepublic of KoreaEpigeneticsGenome-wide association studyKorean populationLifestyle-associated factorNon-coding variantPolygenic risk scoreRenal cell carcinoma

Identifiers

PMID38200428
PMCPMC10777500
OpenAlexW4390696940

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.