Evidence map›Paper›PMID 34912076›Full record

ArticleBritish journal of cancer2022

Phenome-wide association study (PheWAS) of colorectal cancer risk SNP effects on health outcomes in UK Biobank.

Xiaomeng Zhang, Xue Li, Yazhou He, Philip J Law, Susan M Farrington, Harry Campbell, Ian P M Tomlinson, Richard S Houlston, Malcolm G Dunlop, Maria Timofeeva and 1 more

Open access · hybridAbstract read
In one paragraph

Article in British journal of cancer, 2022. 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
0.6field-weighted citation impact, top 28% 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, 10 citations in OpenAlex.

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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

11 authors at 6 institutions in 4 countries.

Xiaomeng ZhangCentre for Global Health, Usher Institute, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0003-4097-7548
Xue LiCentre for Global Health, Usher Institute, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0001-6880-2577
Yazhou HeColon Cancer Genetics Group, Cancer Research UK Edinburgh Centre and Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0003-2358-0143
Philip J LawDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Susan M FarringtonColon Cancer Genetics Group, Cancer Research UK Edinburgh Centre and Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Harry CampbellCentre for Global Health, Usher Institute, University of Edinburgh, Edinburgh, UK.
Ian P M TomlinsonCancer Research UK Edinburgh Centre, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Richard S HoulstonDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.ORCID http://orcid.org/0000-0002-5268-0242
Malcolm G DunlopColon Cancer Genetics Group, Cancer Research UK Edinburgh Centre and Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Maria TimofeevaColon Cancer Genetics Group, Cancer Research UK Edinburgh Centre and Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK. mtimofeeva@health.sdu.dk.ORCID http://orcid.org/0000-0002-2503-4253
Evropi TheodoratouCentre for Global Health, Usher Institute, University of Edinburgh, Edinburgh, UK. e.theodoratou@ed.ac.uk.ORCID http://orcid.org/0000-0001-5887-9132
Edinburgh Cancer Research · GBInstitute of Cancer Research · GBUniversity of Edinburgh · GBSecond Affiliated Hospital of Zhejiang University · CNSichuan University · CNUniversity of Southern Denmark · DK

Funding

Cancer Research UK 12076Cancer Research UK 18927Cancer Research UK 22804Cancer Research UK 25514Medical Research Council MC_PC_17228Medical Research Council MC_PC_U127527198Medical Research Council MC_QA137853Medical Research Council MC_U127527198Medical Research Council MC_UU_00007/1Medical Research Council MR/K018647/1
6 · The paper itself

Abstract

backgroundAssociations between colorectal cancer (CRC) and other health outcomes have been reported, but these may be subject to biases, or due to limitations of observational studies.

methodsWe set out to determine whether genetic predisposition to CRC is also associated with the risk of other phenotypes. Under the phenome-wide association study (PheWAS) and tree-structured phenotypic model (TreeWAS), we studied 334,385 unrelated White British individuals (excluding CRC patients) from the UK Biobank cohort. We generated a polygenic risk score (PRS) from CRC genome-wide association studies as a measure of CRC risk. We performed sensitivity analyses to test the robustness of the results and searched the Danish Disease Trajectory Browser (DTB) to replicate the observed associations.

resultsEight PheWAS phenotypes and 21 TreeWAS nodes were associated with CRC genetic predisposition by PheWAS and TreeWAS, respectively. The PheWAS detected associations were from neoplasms and digestive system disease group (e.g. benign neoplasm of colon, anal and rectal polyp and diverticular disease). The results from the TreeWAS corroborated the results from the PheWAS. These results were replicated in the observational data within the DTB.

conclusionsWe show that benign colorectal neoplasms share genetic aetiology with CRC using PheWAS and TreeWAS methods. Additionally, CRC genetic predisposition is associated with diverticular disease.

Indexed as

Polymorphism, Single NucleotideAdultAgedBiological Specimen BanksColorectal NeoplasmsFemaleGenome-Wide Association StudyHumansMaleMiddle AgedPhenomicsPhenotypeUnited Kingdom

Identifiers

PMID34912076
PMCPMC8888597
OpenAlexW4200219593

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.