A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank
Abstract Background Common types of musculoskeletal conditions include pain in the neck and shoulder areas. This study seeks to identify the genetic variants associated with neck or shoulder pain based on a genome-wide association approach using 203 309 subjects from the UK Biobank cohort and look f...
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| Veröffentlicht in: | Human molecular genetics 2020-05, Vol.29 (8), p.1396-1404 |
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| creator | Meng, Weihua Chan, Brian W Harris, Cameron Freidin, Maxim B Hebert, Harry L Adams, Mark J Campbell, Archie Hayward, Caroline Zheng, Hua Zhang, Xianwei Colvin, Lesley A Hales, Tim G Palmer, Colin N A Williams, Frances M K McIntosh, Andrew Smith, Blair H |
| description | Abstract
Background
Common types of musculoskeletal conditions include pain in the neck and shoulder areas. This study seeks to identify the genetic variants associated with neck or shoulder pain based on a genome-wide association approach using 203 309 subjects from the UK Biobank cohort and look for replication evidence from the Generation Scotland: Scottish Family Health Study (GS:SFHS) and TwinsUK.
Methods
A genome-wide association study was performed adjusting for age, sex, BMI and nine population principal components. Significant and independent genetic variants were then sent to GS:SFHS and TwinsUK for replication.
Results
We identified three genetic loci that were associated with neck or shoulder pain in the UK Biobank samples. The most significant locus was in an intergenic region in chromosome 17, rs12453010, having P = 1.66 × 10−11. The second most significant locus was located in the FOXP2 gene in chromosome 7 with P = 2.38 × 10−10 for rs34291892. The third locus was located in the LINC01572 gene in chromosome 16 with P = 4.50 × 10−8 for rs62053992. In the replication stage, among four significant and independent genetic variants, rs2049604 in the FOXP2 gene and rs62053992 in the LINC01572 gene were weakly replicated in GS:SFHS (P = 0.0240 and P = 0.0202, respectively).
Conclusions
We have identified three loci associated with neck or shoulder pain in the UK Biobank cohort, two of which were weakly supported in a replication cohort. Further evidence is needed to confirm their roles in neck or shoulder pain. |
| doi_str_mv | 10.1093/hmg/ddaa058 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7254846</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><oup_id>10.1093/hmg/ddaa058</oup_id><sourcerecordid>2386291457</sourcerecordid><originalsourceid>FETCH-LOGICAL-c412t-29a63ef81d7f9dec7c8ac86fe0f5c3c54897dc8850065cce0e488e07da932c173</originalsourceid><addsrcrecordid>eNp9kc9LHDEUx4NUdKuevEtOpVBG82symUthlVZFwYueQzZ5s5t1JtkmMyv-986y26W9CA_e4X34fB98ETqn5JKSml8tuvmVc8aQUh2gCRWSFIwo_gVNSC1FIWsij9HXnJeEUCl4dYSOOWNCUl5N0HKK5xBiB8Wbd4BNztF60_sYcO4H944bH1zeMNB7i9cmeRP6vAfB4TffL3AA-4pjwnkRh9ZBwivjAx7n5QFf-zgz4fUUHTamzXC22yfo5fev55u74vHp9v5m-lhYQVlfsNpIDo2irmpqB7ayylglGyBNabkthaorZ5UqCZGltUBAKAWkcqbmzNKKn6CfW-9qmHXgLIQ-mVavku9MetfReP3_JfiFnse1rtgoF3IUfN8JUvwzQO5157OFtjUB4pA140qymopyk_Vji9oUc07Q7GMo0Zt29NiO3rUz0hf_frZn_9YxAt-2QBxWn5o-APbjm6w</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2386291457</pqid></control><display><type>article</type><title>A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank</title><source>Oxford University Press Journals All Titles (1996-Current)</source><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>Alma/SFX Local Collection</source><creator>Meng, Weihua ; Chan, Brian W ; Harris, Cameron ; Freidin, Maxim B ; Hebert, Harry L ; Adams, Mark J ; Campbell, Archie ; Hayward, Caroline ; Zheng, Hua ; Zhang, Xianwei ; Colvin, Lesley A ; Hales, Tim G ; Palmer, Colin N A ; Williams, Frances M K ; McIntosh, Andrew ; Smith, Blair H</creator><creatorcontrib>Meng, Weihua ; Chan, Brian W ; Harris, Cameron ; Freidin, Maxim B ; Hebert, Harry L ; Adams, Mark J ; Campbell, Archie ; Hayward, Caroline ; Zheng, Hua ; Zhang, Xianwei ; Colvin, Lesley A ; Hales, Tim G ; Palmer, Colin N A ; Williams, Frances M K ; McIntosh, Andrew ; Smith, Blair H</creatorcontrib><description>Abstract
Background
Common types of musculoskeletal conditions include pain in the neck and shoulder areas. This study seeks to identify the genetic variants associated with neck or shoulder pain based on a genome-wide association approach using 203 309 subjects from the UK Biobank cohort and look for replication evidence from the Generation Scotland: Scottish Family Health Study (GS:SFHS) and TwinsUK.
Methods
A genome-wide association study was performed adjusting for age, sex, BMI and nine population principal components. Significant and independent genetic variants were then sent to GS:SFHS and TwinsUK for replication.
Results
We identified three genetic loci that were associated with neck or shoulder pain in the UK Biobank samples. The most significant locus was in an intergenic region in chromosome 17, rs12453010, having P = 1.66 × 10−11. The second most significant locus was located in the FOXP2 gene in chromosome 7 with P = 2.38 × 10−10 for rs34291892. The third locus was located in the LINC01572 gene in chromosome 16 with P = 4.50 × 10−8 for rs62053992. In the replication stage, among four significant and independent genetic variants, rs2049604 in the FOXP2 gene and rs62053992 in the LINC01572 gene were weakly replicated in GS:SFHS (P = 0.0240 and P = 0.0202, respectively).
Conclusions
We have identified three loci associated with neck or shoulder pain in the UK Biobank cohort, two of which were weakly supported in a replication cohort. Further evidence is needed to confirm their roles in neck or shoulder pain.</description><identifier>ISSN: 0964-6906</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/ddaa058</identifier><identifier>PMID: 32246137</identifier><language>eng</language><publisher>England: Oxford University Press</publisher><subject>Biological Specimen Banks ; Female ; Forkhead Transcription Factors - genetics ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Male ; Middle Aged ; Neck Pain - epidemiology ; Neck Pain - genetics ; Neck Pain - pathology ; Polymorphism, Single Nucleotide - genetics ; RNA, Long Noncoding - genetics ; Shoulder Pain - epidemiology ; Shoulder Pain - genetics ; Shoulder Pain - pathology ; United Kingdom - epidemiology ; White People - genetics</subject><ispartof>Human molecular genetics, 2020-05, Vol.29 (8), p.1396-1404</ispartof><rights>The Author(s) 2020. Published by Oxford University Press. 2020</rights><rights>The Author(s) 2020. Published by Oxford University Press.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c412t-29a63ef81d7f9dec7c8ac86fe0f5c3c54897dc8850065cce0e488e07da932c173</citedby><cites>FETCH-LOGICAL-c412t-29a63ef81d7f9dec7c8ac86fe0f5c3c54897dc8850065cce0e488e07da932c173</cites><orcidid>0000-0002-4614-3483</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,1578,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32246137$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Meng, Weihua</creatorcontrib><creatorcontrib>Chan, Brian W</creatorcontrib><creatorcontrib>Harris, Cameron</creatorcontrib><creatorcontrib>Freidin, Maxim B</creatorcontrib><creatorcontrib>Hebert, Harry L</creatorcontrib><creatorcontrib>Adams, Mark J</creatorcontrib><creatorcontrib>Campbell, Archie</creatorcontrib><creatorcontrib>Hayward, Caroline</creatorcontrib><creatorcontrib>Zheng, Hua</creatorcontrib><creatorcontrib>Zhang, Xianwei</creatorcontrib><creatorcontrib>Colvin, Lesley A</creatorcontrib><creatorcontrib>Hales, Tim G</creatorcontrib><creatorcontrib>Palmer, Colin N A</creatorcontrib><creatorcontrib>Williams, Frances M K</creatorcontrib><creatorcontrib>McIntosh, Andrew</creatorcontrib><creatorcontrib>Smith, Blair H</creatorcontrib><title>A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank</title><title>Human molecular genetics</title><addtitle>Hum Mol Genet</addtitle><description>Abstract
Background
Common types of musculoskeletal conditions include pain in the neck and shoulder areas. This study seeks to identify the genetic variants associated with neck or shoulder pain based on a genome-wide association approach using 203 309 subjects from the UK Biobank cohort and look for replication evidence from the Generation Scotland: Scottish Family Health Study (GS:SFHS) and TwinsUK.
Methods
A genome-wide association study was performed adjusting for age, sex, BMI and nine population principal components. Significant and independent genetic variants were then sent to GS:SFHS and TwinsUK for replication.
Results
We identified three genetic loci that were associated with neck or shoulder pain in the UK Biobank samples. The most significant locus was in an intergenic region in chromosome 17, rs12453010, having P = 1.66 × 10−11. The second most significant locus was located in the FOXP2 gene in chromosome 7 with P = 2.38 × 10−10 for rs34291892. The third locus was located in the LINC01572 gene in chromosome 16 with P = 4.50 × 10−8 for rs62053992. In the replication stage, among four significant and independent genetic variants, rs2049604 in the FOXP2 gene and rs62053992 in the LINC01572 gene were weakly replicated in GS:SFHS (P = 0.0240 and P = 0.0202, respectively).
Conclusions
We have identified three loci associated with neck or shoulder pain in the UK Biobank cohort, two of which were weakly supported in a replication cohort. Further evidence is needed to confirm their roles in neck or shoulder pain.</description><subject>Biological Specimen Banks</subject><subject>Female</subject><subject>Forkhead Transcription Factors - genetics</subject><subject>Genetic Predisposition to Disease</subject><subject>Genome-Wide Association Study</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Neck Pain - epidemiology</subject><subject>Neck Pain - genetics</subject><subject>Neck Pain - pathology</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>RNA, Long Noncoding - genetics</subject><subject>Shoulder Pain - epidemiology</subject><subject>Shoulder Pain - genetics</subject><subject>Shoulder Pain - pathology</subject><subject>United Kingdom - epidemiology</subject><subject>White People - genetics</subject><issn>0964-6906</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>TOX</sourceid><sourceid>EIF</sourceid><recordid>eNp9kc9LHDEUx4NUdKuevEtOpVBG82symUthlVZFwYueQzZ5s5t1JtkmMyv-986y26W9CA_e4X34fB98ETqn5JKSml8tuvmVc8aQUh2gCRWSFIwo_gVNSC1FIWsij9HXnJeEUCl4dYSOOWNCUl5N0HKK5xBiB8Wbd4BNztF60_sYcO4H944bH1zeMNB7i9cmeRP6vAfB4TffL3AA-4pjwnkRh9ZBwivjAx7n5QFf-zgz4fUUHTamzXC22yfo5fev55u74vHp9v5m-lhYQVlfsNpIDo2irmpqB7ayylglGyBNabkthaorZ5UqCZGltUBAKAWkcqbmzNKKn6CfW-9qmHXgLIQ-mVavku9MetfReP3_JfiFnse1rtgoF3IUfN8JUvwzQO5157OFtjUB4pA140qymopyk_Vji9oUc07Q7GMo0Zt29NiO3rUz0hf_frZn_9YxAt-2QBxWn5o-APbjm6w</recordid><startdate>20200528</startdate><enddate>20200528</enddate><creator>Meng, Weihua</creator><creator>Chan, Brian W</creator><creator>Harris, Cameron</creator><creator>Freidin, Maxim B</creator><creator>Hebert, Harry L</creator><creator>Adams, Mark J</creator><creator>Campbell, Archie</creator><creator>Hayward, Caroline</creator><creator>Zheng, Hua</creator><creator>Zhang, Xianwei</creator><creator>Colvin, Lesley A</creator><creator>Hales, Tim G</creator><creator>Palmer, Colin N A</creator><creator>Williams, Frances M K</creator><creator>McIntosh, Andrew</creator><creator>Smith, Blair H</creator><general>Oxford University Press</general><scope>TOX</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-4614-3483</orcidid></search><sort><creationdate>20200528</creationdate><title>A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank</title><author>Meng, Weihua ; Chan, Brian W ; Harris, Cameron ; Freidin, Maxim B ; Hebert, Harry L ; Adams, Mark J ; Campbell, Archie ; Hayward, Caroline ; Zheng, Hua ; Zhang, Xianwei ; Colvin, Lesley A ; Hales, Tim G ; Palmer, Colin N A ; Williams, Frances M K ; McIntosh, Andrew ; Smith, Blair H</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c412t-29a63ef81d7f9dec7c8ac86fe0f5c3c54897dc8850065cce0e488e07da932c173</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Biological Specimen Banks</topic><topic>Female</topic><topic>Forkhead Transcription Factors - genetics</topic><topic>Genetic Predisposition to Disease</topic><topic>Genome-Wide Association Study</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Neck Pain - epidemiology</topic><topic>Neck Pain - genetics</topic><topic>Neck Pain - pathology</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>RNA, Long Noncoding - genetics</topic><topic>Shoulder Pain - epidemiology</topic><topic>Shoulder Pain - genetics</topic><topic>Shoulder Pain - pathology</topic><topic>United Kingdom - epidemiology</topic><topic>White People - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Meng, Weihua</creatorcontrib><creatorcontrib>Chan, Brian W</creatorcontrib><creatorcontrib>Harris, Cameron</creatorcontrib><creatorcontrib>Freidin, Maxim B</creatorcontrib><creatorcontrib>Hebert, Harry L</creatorcontrib><creatorcontrib>Adams, Mark J</creatorcontrib><creatorcontrib>Campbell, Archie</creatorcontrib><creatorcontrib>Hayward, Caroline</creatorcontrib><creatorcontrib>Zheng, Hua</creatorcontrib><creatorcontrib>Zhang, Xianwei</creatorcontrib><creatorcontrib>Colvin, Lesley A</creatorcontrib><creatorcontrib>Hales, Tim G</creatorcontrib><creatorcontrib>Palmer, Colin N A</creatorcontrib><creatorcontrib>Williams, Frances M K</creatorcontrib><creatorcontrib>McIntosh, Andrew</creatorcontrib><creatorcontrib>Smith, Blair H</creatorcontrib><collection>Oxford Journals Open Access Collection</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Human molecular genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Meng, Weihua</au><au>Chan, Brian W</au><au>Harris, Cameron</au><au>Freidin, Maxim B</au><au>Hebert, Harry L</au><au>Adams, Mark J</au><au>Campbell, Archie</au><au>Hayward, Caroline</au><au>Zheng, Hua</au><au>Zhang, Xianwei</au><au>Colvin, Lesley A</au><au>Hales, Tim G</au><au>Palmer, Colin N A</au><au>Williams, Frances M K</au><au>McIntosh, Andrew</au><au>Smith, Blair H</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Hum Mol Genet</addtitle><date>2020-05-28</date><risdate>2020</risdate><volume>29</volume><issue>8</issue><spage>1396</spage><epage>1404</epage><pages>1396-1404</pages><issn>0964-6906</issn><eissn>1460-2083</eissn><abstract>Abstract
Background
Common types of musculoskeletal conditions include pain in the neck and shoulder areas. This study seeks to identify the genetic variants associated with neck or shoulder pain based on a genome-wide association approach using 203 309 subjects from the UK Biobank cohort and look for replication evidence from the Generation Scotland: Scottish Family Health Study (GS:SFHS) and TwinsUK.
Methods
A genome-wide association study was performed adjusting for age, sex, BMI and nine population principal components. Significant and independent genetic variants were then sent to GS:SFHS and TwinsUK for replication.
Results
We identified three genetic loci that were associated with neck or shoulder pain in the UK Biobank samples. The most significant locus was in an intergenic region in chromosome 17, rs12453010, having P = 1.66 × 10−11. The second most significant locus was located in the FOXP2 gene in chromosome 7 with P = 2.38 × 10−10 for rs34291892. The third locus was located in the LINC01572 gene in chromosome 16 with P = 4.50 × 10−8 for rs62053992. In the replication stage, among four significant and independent genetic variants, rs2049604 in the FOXP2 gene and rs62053992 in the LINC01572 gene were weakly replicated in GS:SFHS (P = 0.0240 and P = 0.0202, respectively).
Conclusions
We have identified three loci associated with neck or shoulder pain in the UK Biobank cohort, two of which were weakly supported in a replication cohort. Further evidence is needed to confirm their roles in neck or shoulder pain.</abstract><cop>England</cop><pub>Oxford University Press</pub><pmid>32246137</pmid><doi>10.1093/hmg/ddaa058</doi><tpages>9</tpages><orcidid>https://orcid.org/0000-0002-4614-3483</orcidid><oa>free_for_read</oa></addata></record> |
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| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Biological Specimen Banks Female Forkhead Transcription Factors - genetics Genetic Predisposition to Disease Genome-Wide Association Study Humans Male Middle Aged Neck Pain - epidemiology Neck Pain - genetics Neck Pain - pathology Polymorphism, Single Nucleotide - genetics RNA, Long Noncoding - genetics Shoulder Pain - epidemiology Shoulder Pain - genetics Shoulder Pain - pathology United Kingdom - epidemiology White People - genetics |
| title | A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank |
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