Risk Assessment for Hip and Knee Osteoarthritis Using Polygenic Risk Scores
Objective Polygenic risk scores (PRS) allow risk stratification using common single‐nucleotide polymorphisms (SNPs), and clinical applications are currently explored for several diseases. This study was undertaken to assess the risk of hip and knee osteoarthritis (OA) using PRS. Methods We analyzed...
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| Veröffentlicht in: | Arthritis & rheumatology (Hoboken, N.J.) N.J.), 2022-09, Vol.74 (9), p.1488-1496 |
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| creator | Sedaghati‐Khayat, Bahar Boer, Cindy G. Runhaar, Jos Bierma‐Zeinstra, Sita M. A. Broer, Linda Ikram, M. Arfan Zeggini, Eleftheria Uitterlinden, André G. Rooij, Jeroen G. J. Meurs, Joyce B. J. |
| description | Objective
Polygenic risk scores (PRS) allow risk stratification using common single‐nucleotide polymorphisms (SNPs), and clinical applications are currently explored for several diseases. This study was undertaken to assess the risk of hip and knee osteoarthritis (OA) using PRS.
Methods
We analyzed 12,732 individuals from a population‐based cohort from the Rotterdam Study (n = 11,496), a clinical cohort (Cohort Hip and Cohort Knee [CHECK] study; n = 908), and a high‐risk cohort of overweight women (Prevention of Knee OA in Overweight Females [PROOF] study; n = 328), for the association of the PRS with prevalence/incidence of radiographic OA, of clinical OA, and of total hip replacement (THR) or total knee replacement (TKR). The hip PRS and knee PRS contained 44 and 24 independent SNPs, respectively, and were derived from a recent genome‐wide association study meta‐analysis. Standardized PRS (with Z transformation) were used in all analyses.
Results
We found a stronger association of the PRS for clinically defined OA compared to radiographic OA phenotypes, and we observed the highest PRS risk stratification for TKR/THR. The odds ratio (OR) per SD was 1.3 for incident THR (95% confidence interval [95% CI] 1.1–1.5) and 1.6 (95% CI 1.3–1.9) for incident TKR in the Rotterdam Study. The knee PRS was associated with incident clinical knee OA in the CHECK study (OR 1.3 [95% CI 1.1–1.5]), but not for the PROOF study (OR 1.2 [95% CI 0.8–1.7]). The OR for OA increased gradually across the PRS distribution, up to 2.1 (95% CI 1.4–3.2) for individuals with the 10% highest PRS compared to the middle 50% of the PRS distribution.
Conclusion
Our findings validated the association of PRS across OA definitions. Since OA is becoming frequent and primary prevention is not commonly applicable, PRS‐based risk assessment could play a role in OA prevention. However, the utility of PRS is dependent on the setting. Further studies are needed to test the integration of genetic risk assessment in diverse health care settings. |
| doi_str_mv | 10.1002/art.42246 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2672321021</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2672321021</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3886-d83647f952fcf7a3ed5ac27b95e3898ded55d9614cc982de9b271ceeb41e5c733</originalsourceid><addsrcrecordid>eNp1kE1PwzAMhiMEYmjswB9AkbjAYSMfTdIepwkYGtIQbOeoS92R0bUj7oT27wkMOCDhi23p8Wv7JeSMswFnTFznoR0kQiT6gJwIKXRfCaYOf2qe8Q7pIa5YjMwwzdQx6Uilk4RJdUImTx5f6RARENdQt7RsAh37Dc3rgk5qADrFFpq45CX41iOdo6-X9LGpdkuovaNf88-uCYCn5KjMK4Ted-6S-e3NbDTuP0zv7kfDh76Taar7RSp1YspMidKVJpdQqNwJs8gUyDRLi9irItM8cS5LRQHZQhjuABYJB-WMlF1yudfdhOZtC9jatUcHVZXX0GzRCm3i85wJHtGLP-iq2YY6XmeFYSZVKtEqUld7yoUGMUBpN8Gv87CznNlPk238336ZHNnzb8XtYg3FL_ljaQSu98C7r2D3v5IdPs32kh-Ix4Sk</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2707855465</pqid></control><display><type>article</type><title>Risk Assessment for Hip and Knee Osteoarthritis Using Polygenic Risk Scores</title><source>Wiley Online Library - AutoHoldings Journals</source><source>Alma/SFX Local Collection</source><creator>Sedaghati‐Khayat, Bahar ; Boer, Cindy G. ; Runhaar, Jos ; Bierma‐Zeinstra, Sita M. A. ; Broer, Linda ; Ikram, M. Arfan ; Zeggini, Eleftheria ; Uitterlinden, André G. ; Rooij, Jeroen G. J. ; Meurs, Joyce B. J.</creator><creatorcontrib>Sedaghati‐Khayat, Bahar ; Boer, Cindy G. ; Runhaar, Jos ; Bierma‐Zeinstra, Sita M. A. ; Broer, Linda ; Ikram, M. Arfan ; Zeggini, Eleftheria ; Uitterlinden, André G. ; Rooij, Jeroen G. J. ; Meurs, Joyce B. J.</creatorcontrib><description>Objective
Polygenic risk scores (PRS) allow risk stratification using common single‐nucleotide polymorphisms (SNPs), and clinical applications are currently explored for several diseases. This study was undertaken to assess the risk of hip and knee osteoarthritis (OA) using PRS.
Methods
We analyzed 12,732 individuals from a population‐based cohort from the Rotterdam Study (n = 11,496), a clinical cohort (Cohort Hip and Cohort Knee [CHECK] study; n = 908), and a high‐risk cohort of overweight women (Prevention of Knee OA in Overweight Females [PROOF] study; n = 328), for the association of the PRS with prevalence/incidence of radiographic OA, of clinical OA, and of total hip replacement (THR) or total knee replacement (TKR). The hip PRS and knee PRS contained 44 and 24 independent SNPs, respectively, and were derived from a recent genome‐wide association study meta‐analysis. Standardized PRS (with Z transformation) were used in all analyses.
Results
We found a stronger association of the PRS for clinically defined OA compared to radiographic OA phenotypes, and we observed the highest PRS risk stratification for TKR/THR. The odds ratio (OR) per SD was 1.3 for incident THR (95% confidence interval [95% CI] 1.1–1.5) and 1.6 (95% CI 1.3–1.9) for incident TKR in the Rotterdam Study. The knee PRS was associated with incident clinical knee OA in the CHECK study (OR 1.3 [95% CI 1.1–1.5]), but not for the PROOF study (OR 1.2 [95% CI 0.8–1.7]). The OR for OA increased gradually across the PRS distribution, up to 2.1 (95% CI 1.4–3.2) for individuals with the 10% highest PRS compared to the middle 50% of the PRS distribution.
Conclusion
Our findings validated the association of PRS across OA definitions. Since OA is becoming frequent and primary prevention is not commonly applicable, PRS‐based risk assessment could play a role in OA prevention. However, the utility of PRS is dependent on the setting. Further studies are needed to test the integration of genetic risk assessment in diverse health care settings.</description><identifier>ISSN: 2326-5191</identifier><identifier>EISSN: 2326-5205</identifier><identifier>DOI: 10.1002/art.42246</identifier><identifier>PMID: 35644035</identifier><language>eng</language><publisher>Boston, USA: Wiley Periodicals, Inc</publisher><subject>Arthritis ; Biomedical materials ; Body weight ; Genetic diversity ; Genetic transformation ; Genomes ; Health care ; Health risks ; Hip ; Knee ; Nucleotides ; Orthopaedic implants ; Osteoarthritis ; Overweight ; Phenotypes ; Prevention ; Risk assessment ; Single-nucleotide polymorphism ; Total hip arthroplasty</subject><ispartof>Arthritis & rheumatology (Hoboken, N.J.), 2022-09, Vol.74 (9), p.1488-1496</ispartof><rights>2022 The Authors. published by Wiley Periodicals LLC on behalf of American College of Rheumatology.</rights><rights>This article is protected by copyright. All rights reserved.</rights><rights>2022. This article is published under http://creativecommons.org/licenses/by-nc/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3886-d83647f952fcf7a3ed5ac27b95e3898ded55d9614cc982de9b271ceeb41e5c733</citedby><cites>FETCH-LOGICAL-c3886-d83647f952fcf7a3ed5ac27b95e3898ded55d9614cc982de9b271ceeb41e5c733</cites><orcidid>0000-0002-7665-8648 ; 0000-0003-4238-659X ; 0000-0002-6293-6707</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fart.42246$$EPDF$$P50$$Gwiley$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fart.42246$$EHTML$$P50$$Gwiley$$Hfree_for_read</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35644035$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sedaghati‐Khayat, Bahar</creatorcontrib><creatorcontrib>Boer, Cindy G.</creatorcontrib><creatorcontrib>Runhaar, Jos</creatorcontrib><creatorcontrib>Bierma‐Zeinstra, Sita M. A.</creatorcontrib><creatorcontrib>Broer, Linda</creatorcontrib><creatorcontrib>Ikram, M. Arfan</creatorcontrib><creatorcontrib>Zeggini, Eleftheria</creatorcontrib><creatorcontrib>Uitterlinden, André G.</creatorcontrib><creatorcontrib>Rooij, Jeroen G. J.</creatorcontrib><creatorcontrib>Meurs, Joyce B. J.</creatorcontrib><title>Risk Assessment for Hip and Knee Osteoarthritis Using Polygenic Risk Scores</title><title>Arthritis & rheumatology (Hoboken, N.J.)</title><addtitle>Arthritis Rheumatol</addtitle><description>Objective
Polygenic risk scores (PRS) allow risk stratification using common single‐nucleotide polymorphisms (SNPs), and clinical applications are currently explored for several diseases. This study was undertaken to assess the risk of hip and knee osteoarthritis (OA) using PRS.
Methods
We analyzed 12,732 individuals from a population‐based cohort from the Rotterdam Study (n = 11,496), a clinical cohort (Cohort Hip and Cohort Knee [CHECK] study; n = 908), and a high‐risk cohort of overweight women (Prevention of Knee OA in Overweight Females [PROOF] study; n = 328), for the association of the PRS with prevalence/incidence of radiographic OA, of clinical OA, and of total hip replacement (THR) or total knee replacement (TKR). The hip PRS and knee PRS contained 44 and 24 independent SNPs, respectively, and were derived from a recent genome‐wide association study meta‐analysis. Standardized PRS (with Z transformation) were used in all analyses.
Results
We found a stronger association of the PRS for clinically defined OA compared to radiographic OA phenotypes, and we observed the highest PRS risk stratification for TKR/THR. The odds ratio (OR) per SD was 1.3 for incident THR (95% confidence interval [95% CI] 1.1–1.5) and 1.6 (95% CI 1.3–1.9) for incident TKR in the Rotterdam Study. The knee PRS was associated with incident clinical knee OA in the CHECK study (OR 1.3 [95% CI 1.1–1.5]), but not for the PROOF study (OR 1.2 [95% CI 0.8–1.7]). The OR for OA increased gradually across the PRS distribution, up to 2.1 (95% CI 1.4–3.2) for individuals with the 10% highest PRS compared to the middle 50% of the PRS distribution.
Conclusion
Our findings validated the association of PRS across OA definitions. Since OA is becoming frequent and primary prevention is not commonly applicable, PRS‐based risk assessment could play a role in OA prevention. However, the utility of PRS is dependent on the setting. Further studies are needed to test the integration of genetic risk assessment in diverse health care settings.</description><subject>Arthritis</subject><subject>Biomedical materials</subject><subject>Body weight</subject><subject>Genetic diversity</subject><subject>Genetic transformation</subject><subject>Genomes</subject><subject>Health care</subject><subject>Health risks</subject><subject>Hip</subject><subject>Knee</subject><subject>Nucleotides</subject><subject>Orthopaedic implants</subject><subject>Osteoarthritis</subject><subject>Overweight</subject><subject>Phenotypes</subject><subject>Prevention</subject><subject>Risk assessment</subject><subject>Single-nucleotide polymorphism</subject><subject>Total hip arthroplasty</subject><issn>2326-5191</issn><issn>2326-5205</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><recordid>eNp1kE1PwzAMhiMEYmjswB9AkbjAYSMfTdIepwkYGtIQbOeoS92R0bUj7oT27wkMOCDhi23p8Wv7JeSMswFnTFznoR0kQiT6gJwIKXRfCaYOf2qe8Q7pIa5YjMwwzdQx6Uilk4RJdUImTx5f6RARENdQt7RsAh37Dc3rgk5qADrFFpq45CX41iOdo6-X9LGpdkuovaNf88-uCYCn5KjMK4Ted-6S-e3NbDTuP0zv7kfDh76Taar7RSp1YspMidKVJpdQqNwJs8gUyDRLi9irItM8cS5LRQHZQhjuABYJB-WMlF1yudfdhOZtC9jatUcHVZXX0GzRCm3i85wJHtGLP-iq2YY6XmeFYSZVKtEqUld7yoUGMUBpN8Gv87CznNlPk238336ZHNnzb8XtYg3FL_ljaQSu98C7r2D3v5IdPs32kh-Ix4Sk</recordid><startdate>202209</startdate><enddate>202209</enddate><creator>Sedaghati‐Khayat, Bahar</creator><creator>Boer, Cindy G.</creator><creator>Runhaar, Jos</creator><creator>Bierma‐Zeinstra, Sita M. A.</creator><creator>Broer, Linda</creator><creator>Ikram, M. Arfan</creator><creator>Zeggini, Eleftheria</creator><creator>Uitterlinden, André G.</creator><creator>Rooij, Jeroen G. J.</creator><creator>Meurs, Joyce B. J.</creator><general>Wiley Periodicals, Inc</general><general>Wiley Subscription Services, Inc</general><scope>24P</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QL</scope><scope>7QP</scope><scope>7T5</scope><scope>7TM</scope><scope>7U7</scope><scope>C1K</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-7665-8648</orcidid><orcidid>https://orcid.org/0000-0003-4238-659X</orcidid><orcidid>https://orcid.org/0000-0002-6293-6707</orcidid></search><sort><creationdate>202209</creationdate><title>Risk Assessment for Hip and Knee Osteoarthritis Using Polygenic Risk Scores</title><author>Sedaghati‐Khayat, Bahar ; Boer, Cindy G. ; Runhaar, Jos ; Bierma‐Zeinstra, Sita M. A. ; Broer, Linda ; Ikram, M. Arfan ; Zeggini, Eleftheria ; Uitterlinden, André G. ; Rooij, Jeroen G. J. ; Meurs, Joyce B. J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3886-d83647f952fcf7a3ed5ac27b95e3898ded55d9614cc982de9b271ceeb41e5c733</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Arthritis</topic><topic>Biomedical materials</topic><topic>Body weight</topic><topic>Genetic diversity</topic><topic>Genetic transformation</topic><topic>Genomes</topic><topic>Health care</topic><topic>Health risks</topic><topic>Hip</topic><topic>Knee</topic><topic>Nucleotides</topic><topic>Orthopaedic implants</topic><topic>Osteoarthritis</topic><topic>Overweight</topic><topic>Phenotypes</topic><topic>Prevention</topic><topic>Risk assessment</topic><topic>Single-nucleotide polymorphism</topic><topic>Total hip arthroplasty</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sedaghati‐Khayat, Bahar</creatorcontrib><creatorcontrib>Boer, Cindy G.</creatorcontrib><creatorcontrib>Runhaar, Jos</creatorcontrib><creatorcontrib>Bierma‐Zeinstra, Sita M. A.</creatorcontrib><creatorcontrib>Broer, Linda</creatorcontrib><creatorcontrib>Ikram, M. Arfan</creatorcontrib><creatorcontrib>Zeggini, Eleftheria</creatorcontrib><creatorcontrib>Uitterlinden, André G.</creatorcontrib><creatorcontrib>Rooij, Jeroen G. J.</creatorcontrib><creatorcontrib>Meurs, Joyce B. J.</creatorcontrib><collection>Wiley Open Access Journals</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Arthritis & rheumatology (Hoboken, N.J.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sedaghati‐Khayat, Bahar</au><au>Boer, Cindy G.</au><au>Runhaar, Jos</au><au>Bierma‐Zeinstra, Sita M. A.</au><au>Broer, Linda</au><au>Ikram, M. Arfan</au><au>Zeggini, Eleftheria</au><au>Uitterlinden, André G.</au><au>Rooij, Jeroen G. J.</au><au>Meurs, Joyce B. J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Risk Assessment for Hip and Knee Osteoarthritis Using Polygenic Risk Scores</atitle><jtitle>Arthritis & rheumatology (Hoboken, N.J.)</jtitle><addtitle>Arthritis Rheumatol</addtitle><date>2022-09</date><risdate>2022</risdate><volume>74</volume><issue>9</issue><spage>1488</spage><epage>1496</epage><pages>1488-1496</pages><issn>2326-5191</issn><eissn>2326-5205</eissn><abstract>Objective
Polygenic risk scores (PRS) allow risk stratification using common single‐nucleotide polymorphisms (SNPs), and clinical applications are currently explored for several diseases. This study was undertaken to assess the risk of hip and knee osteoarthritis (OA) using PRS.
Methods
We analyzed 12,732 individuals from a population‐based cohort from the Rotterdam Study (n = 11,496), a clinical cohort (Cohort Hip and Cohort Knee [CHECK] study; n = 908), and a high‐risk cohort of overweight women (Prevention of Knee OA in Overweight Females [PROOF] study; n = 328), for the association of the PRS with prevalence/incidence of radiographic OA, of clinical OA, and of total hip replacement (THR) or total knee replacement (TKR). The hip PRS and knee PRS contained 44 and 24 independent SNPs, respectively, and were derived from a recent genome‐wide association study meta‐analysis. Standardized PRS (with Z transformation) were used in all analyses.
Results
We found a stronger association of the PRS for clinically defined OA compared to radiographic OA phenotypes, and we observed the highest PRS risk stratification for TKR/THR. The odds ratio (OR) per SD was 1.3 for incident THR (95% confidence interval [95% CI] 1.1–1.5) and 1.6 (95% CI 1.3–1.9) for incident TKR in the Rotterdam Study. The knee PRS was associated with incident clinical knee OA in the CHECK study (OR 1.3 [95% CI 1.1–1.5]), but not for the PROOF study (OR 1.2 [95% CI 0.8–1.7]). The OR for OA increased gradually across the PRS distribution, up to 2.1 (95% CI 1.4–3.2) for individuals with the 10% highest PRS compared to the middle 50% of the PRS distribution.
Conclusion
Our findings validated the association of PRS across OA definitions. Since OA is becoming frequent and primary prevention is not commonly applicable, PRS‐based risk assessment could play a role in OA prevention. However, the utility of PRS is dependent on the setting. Further studies are needed to test the integration of genetic risk assessment in diverse health care settings.</abstract><cop>Boston, USA</cop><pub>Wiley Periodicals, Inc</pub><pmid>35644035</pmid><doi>10.1002/art.42246</doi><tpages>9</tpages><orcidid>https://orcid.org/0000-0002-7665-8648</orcidid><orcidid>https://orcid.org/0000-0003-4238-659X</orcidid><orcidid>https://orcid.org/0000-0002-6293-6707</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Arthritis Biomedical materials Body weight Genetic diversity Genetic transformation Genomes Health care Health risks Hip Knee Nucleotides Orthopaedic implants Osteoarthritis Overweight Phenotypes Prevention Risk assessment Single-nucleotide polymorphism Total hip arthroplasty |
| title | Risk Assessment for Hip and Knee Osteoarthritis Using Polygenic Risk Scores |
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