Evidence map›Paper›PMID 38486201›Full record

ArticleBMC medicine2024

Polygenic risk score-based phenome-wide association study of head and neck cancer across two large biobanks.

Young Chan Lee, Sang-Hyuk Jung, Manu Shivakumar, Soojin Cha, Woong-Yang Park, Hong-Hee Won, Young-Gyu Eun, Penn Medicine Biobank, Dokyoon Kim

Open access · goldAbstract readClinical Study
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
3.5field-weighted citation impact, top 8% 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

6 citing papers in PubMed, 7 citations in OpenAlex.

  1. Associations of combined lifestyle and genetic risk with incident head and neck cancer: a prospective study in the UK Biobank.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026
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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

9 authors at 5 institutions in 2 countries.

Young Chan Lee *Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Sang-Hyuk Jung *Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Manu ShivakumarDepartment of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Soojin ChaHanyang University Institute for Rheumatology Research, Seoul, Republic of Korea.
Woong-Yang ParkSamsung Genome Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Hong-Hee WonSamsung Genome Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Young-Gyu EunDepartment of Otolaryngology-Head and Neck Surgery, School of Medicine, Kyung Hee University, Seoul, Republic of Korea.
Penn Medicine BiobankInstitute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Dokyoon KimDepartment of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. dokyoon.kim@pennmedicine.upenn.edu.ORCID 0000-0002-4592-9564
University of Pennsylvania · USKyung Hee University · KRSamsung Medical Center · KRHanyang University · KRTranslational Therapeutics (United States) · US

Funding

Unravelling genetic basis of comorbidity using EHR-linked biobank dataR01GM138597 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI KIM, DOKYOON · 2020 to 2023
$2.2M
NIGMS NIH HHS R01 GM138597
6 · The paper itself

Abstract

backgroundNumerous observational studies have highlighted associations of genetic predisposition of head and neck squamous cell carcinoma (HNSCC) with diverse risk factors, but these findings are constrained by design limitations of observational studies. In this study, we utilized a phenome-wide association study (PheWAS) approach, incorporating a polygenic risk score (PRS) derived from a wide array of genomic variants, to systematically investigate phenotypes associated with genetic predisposition to HNSCC. Furthermore, we validated our findings across heterogeneous cohorts, enhancing the robustness and generalizability of our results.

methodsWe derived PRSs for HNSCC and its subgroups, oropharyngeal cancer and oral cancer, using large-scale genome-wide association study summary statistics from the Genetic Associations and Mechanisms in Oncology Network. We conducted a comprehensive investigation, leveraging genotyping data and electronic health records from 308,492 individuals in the UK Biobank and 38,401 individuals in the Penn Medicine Biobank (PMBB), and subsequently performed PheWAS to elucidate the associations between PRS and a wide spectrum of phenotypes.

resultsWe revealed the HNSCC PRS showed significant association with phenotypes related to tobacco use disorder (OR, 1.06; 95% CI, 1.05-1.08; P = 3.50 × 10

conclusionsThe study demonstrated the potential of PRS-based PheWAS in revealing associations between genetic risk factors for HNSCC and various phenotypic traits. The findings emphasized the importance of considering genetic susceptibility in understanding HNSCC and highlighted shared genetic bases between HNSCC and other health conditions and lifestyles.

Indexed as

Genome-Wide Association StudyHead and Neck NeoplasmsBiological Specimen BanksGenetic Predisposition to DiseaseGenetic Risk ScoreHumansSquamous Cell Carcinoma of Head and NeckAlcohol consumptionHead and neck cancerHuman papillomavirusPhenome-wide association studyPolygenic risk scoreSmoking

Identifiers

PMID38486201
PMCPMC10941505
OpenAlexW4392817901

What Socratic 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 Socratic graph.