Phenome-wide association study using research participants' self-reported data provides insight into the Th17 and IL-17 pathway
A phenome-wide association study of variants in genes in the Th17 and IL-17 pathway was performed using self-reported phenotypes and genetic data from 521,000 research participants of 23andMe. Results replicated known associations with similar effect sizes for autoimmune traits illustrating self-rep...
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| creator | Ehm, Margaret G Aponte, Jennifer L Chiano, Mathias N Yerges-Armstrong, Laura M Johnson, Toby Barker, Jonathan N Cook, Suzanne F Gupta, Akanksha Hinds, David A Li, Li Nelson, Matthew R Simpson, Michael A Tian, Chao McCarthy, Linda C Rajpal, Deepak K Waterworth, Dawn M |
| description | A phenome-wide association study of variants in genes in the Th17 and IL-17 pathway was performed using self-reported phenotypes and genetic data from 521,000 research participants of 23andMe. Results replicated known associations with similar effect sizes for autoimmune traits illustrating self-reported traits can be a surrogate for clinically assessed conditions. Novel associations controlling for a false discovery rate of 5% included the association of the variant encoding p.Ile684Ser in TYK2 with increased risk of tonsillectomy, strep throat occurrences and teen acne, the variant encoding p.Arg381Gln in IL23R with a decrease in dandruff frequency, the variant encoding p.Asp10Asn in TRAF3IP2 with risk of male-pattern balding, and the RORC regulatory variant (rs4845604) with protection from allergies. This approach enabled rapid assessment of association with a wide variety of traits and investigation of traits with limited reported associations to overlay meaningful phenotypic context on the range of conditions being considered for drugs targeting this pathway. |
| doi_str_mv | 10.1371/journal.pone.0186405 |
| format | Article |
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Results replicated known associations with similar effect sizes for autoimmune traits illustrating self-reported traits can be a surrogate for clinically assessed conditions. Novel associations controlling for a false discovery rate of 5% included the association of the variant encoding p.Ile684Ser in TYK2 with increased risk of tonsillectomy, strep throat occurrences and teen acne, the variant encoding p.Arg381Gln in IL23R with a decrease in dandruff frequency, the variant encoding p.Asp10Asn in TRAF3IP2 with risk of male-pattern balding, and the RORC regulatory variant (rs4845604) with protection from allergies. 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This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 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A</au><au>Tian, Chao</au><au>McCarthy, Linda C</au><au>Rajpal, Deepak K</au><au>Waterworth, Dawn M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Phenome-wide association study using research participants' self-reported data provides insight into the Th17 and IL-17 pathway</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2017-11-01</date><risdate>2017</risdate><volume>12</volume><issue>11</issue><spage>e0186405</spage><epage>e0186405</epage><pages>e0186405-e0186405</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>A phenome-wide association study of variants in genes in the Th17 and IL-17 pathway was performed using self-reported phenotypes and genetic data from 521,000 research participants of 23andMe. Results replicated known associations with similar effect sizes for autoimmune traits illustrating self-reported traits can be a surrogate for clinically assessed conditions. Novel associations controlling for a false discovery rate of 5% included the association of the variant encoding p.Ile684Ser in TYK2 with increased risk of tonsillectomy, strep throat occurrences and teen acne, the variant encoding p.Arg381Gln in IL23R with a decrease in dandruff frequency, the variant encoding p.Asp10Asn in TRAF3IP2 with risk of male-pattern balding, and the RORC regulatory variant (rs4845604) with protection from allergies. This approach enabled rapid assessment of association with a wide variety of traits and investigation of traits with limited reported associations to overlay meaningful phenotypic context on the range of conditions being considered for drugs targeting this pathway.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>29091937</pmid><doi>10.1371/journal.pone.0186405</doi><tpages>e0186405</tpages><orcidid>https://orcid.org/0000-0001-5032-5637</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2017-11, Vol.12 (11), p.e0186405-e0186405 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_1958608078 |
| source | MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Free Full-Text Journals in Chemistry; Public Library of Science (PLoS) |
| subjects | Acne Allergies Analysis Arthritis Assessments Autoimmune diseases Biology and Life Sciences Care and treatment Crohn's disease Dermatology Diagnosis Disease Drug delivery Drugs Electronic health records Gene loci Genetic Predisposition to Disease Genetics Genome-Wide Association Study Genomes Genomics Helper cells Humans Interleukin 17 Interleukin-17 - genetics Interleukin-17 - immunology Life sciences Lymphocytes T Medical records Medicine Medicine and Health Sciences Pharynx Phenotype Psoriasis R&D Research & development Self Report Self-rated health Studies Th17 Cells - immunology Tonsillectomy Tyk2 protein |
| title | Phenome-wide association study using research participants' self-reported data provides insight into the Th17 and IL-17 pathway |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-05T08%3A22%3A40IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Phenome-wide%20association%20study%20using%20research%20participants'%20self-reported%20data%20provides%20insight%20into%20the%20Th17%20and%20IL-17%20pathway&rft.jtitle=PloS%20one&rft.au=Ehm,%20Margaret%20G&rft.date=2017-11-01&rft.volume=12&rft.issue=11&rft.spage=e0186405&rft.epage=e0186405&rft.pages=e0186405-e0186405&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0186405&rft_dat=%3Cgale_plos_%3EA512699666%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1958608078&rft_id=info:pmid/29091937&rft_galeid=A512699666&rft_doaj_id=oai_doaj_org_article_6497a762f65945019b80ef4fc6c25ce7&rfr_iscdi=true |