Genome-wide association study identifies a locus associated with rotator cuff injury
Rotator cuff tears are common, especially in the fifth and sixth decades of life, but can also occur in the competitive athlete. Genetic differences may contribute to overall injury risk. Identifying genetic loci associated with rotator cuff injury could shed light on the etiology of this injury. We...
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| creator | Roos, Thomas R Roos, Andrew K Avins, Andrew L Ahmed, Marwa A Kleimeyer, John P Fredericson, Michael Ioannidis, John P A Dragoo, Jason L Kim, Stuart K |
| description | Rotator cuff tears are common, especially in the fifth and sixth decades of life, but can also occur in the competitive athlete. Genetic differences may contribute to overall injury risk. Identifying genetic loci associated with rotator cuff injury could shed light on the etiology of this injury. We performed a genome-wide association screen using publically available data from the Research Program in Genes, Environment and Health including 8,357 cases of rotator cuff injury and 94,622 controls. We found rs71404070 to show a genome-wide significant association with rotator cuff injury with p = 2.31x10-8 and an odds ratio of 1.25 per allele. This SNP is located next to cadherin8, which encodes a protein involved in cell adhesion. We also attempted to validate previous gene association studies that had reported a total of 18 SNPs showing a significant association with rotator cuff injury. However, none of the 18 SNPs were validated in our dataset. rs71404070 may be informative in explaining why some individuals are more susceptible to rotator cuff injury than others. |
| doi_str_mv | 10.1371/journal.pone.0189317 |
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Genetic differences may contribute to overall injury risk. Identifying genetic loci associated with rotator cuff injury could shed light on the etiology of this injury. We performed a genome-wide association screen using publically available data from the Research Program in Genes, Environment and Health including 8,357 cases of rotator cuff injury and 94,622 controls. We found rs71404070 to show a genome-wide significant association with rotator cuff injury with p = 2.31x10-8 and an odds ratio of 1.25 per allele. This SNP is located next to cadherin8, which encodes a protein involved in cell adhesion. We also attempted to validate previous gene association studies that had reported a total of 18 SNPs showing a significant association with rotator cuff injury. However, none of the 18 SNPs were validated in our dataset. rs71404070 may be informative in explaining why some individuals are more susceptible to rotator cuff injury than others.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0189317</identifier><identifier>PMID: 29228018</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Analysis ; Biology and Life Sciences ; Cell adhesion ; Chromosome Mapping ; Codes ; Consortia ; Developmental biology ; Epidemiology ; Etiology ; Gene loci ; Genetic aspects ; Genome-wide association studies ; Genome-Wide Association Study ; Genomes ; Health risks ; Humans ; Injuries ; Loci ; Medical research ; Medicine and Health Sciences ; Meta-analysis ; Methods ; Physical Sciences ; Polymorphism, Single Nucleotide ; Professional baseball ; Research and Analysis Methods ; Risk factors ; Rotator Cuff Injuries - genetics ; Rotator cuff repair ; Shoulder ; Single nucleotide polymorphisms ; Single-nucleotide polymorphism ; Sports injuries ; Studies ; Surgery</subject><ispartof>PloS one, 2017-12, Vol.12 (12), p.e0189317-e0189317</ispartof><rights>COPYRIGHT 2017 Public Library of Science</rights><rights>2017 Roos et al. 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. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2017 Roos et al 2017 Roos et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-e0844611dd43e493530f3ef3d729c3ce2ec0813ce5c2704d9c60ec4b95cc59a83</citedby><cites>FETCH-LOGICAL-c692t-e0844611dd43e493530f3ef3d729c3ce2ec0813ce5c2704d9c60ec4b95cc59a83</cites><orcidid>0000-0001-8887-5095</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5724859/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5724859/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79342,79343</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29228018$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Roos, Thomas R</creatorcontrib><creatorcontrib>Roos, Andrew K</creatorcontrib><creatorcontrib>Avins, Andrew L</creatorcontrib><creatorcontrib>Ahmed, Marwa A</creatorcontrib><creatorcontrib>Kleimeyer, John P</creatorcontrib><creatorcontrib>Fredericson, Michael</creatorcontrib><creatorcontrib>Ioannidis, John P A</creatorcontrib><creatorcontrib>Dragoo, Jason L</creatorcontrib><creatorcontrib>Kim, Stuart K</creatorcontrib><title>Genome-wide association study identifies a locus associated with rotator cuff injury</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Rotator cuff tears are common, especially in the fifth and sixth decades of life, but can also occur in the competitive athlete. Genetic differences may contribute to overall injury risk. Identifying genetic loci associated with rotator cuff injury could shed light on the etiology of this injury. We performed a genome-wide association screen using publically available data from the Research Program in Genes, Environment and Health including 8,357 cases of rotator cuff injury and 94,622 controls. We found rs71404070 to show a genome-wide significant association with rotator cuff injury with p = 2.31x10-8 and an odds ratio of 1.25 per allele. This SNP is located next to cadherin8, which encodes a protein involved in cell adhesion. We also attempted to validate previous gene association studies that had reported a total of 18 SNPs showing a significant association with rotator cuff injury. However, none of the 18 SNPs were validated in our dataset. rs71404070 may be informative in explaining why some individuals are more susceptible to rotator cuff injury than others.</description><subject>Analysis</subject><subject>Biology and Life Sciences</subject><subject>Cell adhesion</subject><subject>Chromosome Mapping</subject><subject>Codes</subject><subject>Consortia</subject><subject>Developmental biology</subject><subject>Epidemiology</subject><subject>Etiology</subject><subject>Gene loci</subject><subject>Genetic aspects</subject><subject>Genome-wide association studies</subject><subject>Genome-Wide Association Study</subject><subject>Genomes</subject><subject>Health risks</subject><subject>Humans</subject><subject>Injuries</subject><subject>Loci</subject><subject>Medical research</subject><subject>Medicine and Health Sciences</subject><subject>Meta-analysis</subject><subject>Methods</subject><subject>Physical Sciences</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Professional baseball</subject><subject>Research and Analysis Methods</subject><subject>Risk factors</subject><subject>Rotator Cuff Injuries - 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Genetic differences may contribute to overall injury risk. Identifying genetic loci associated with rotator cuff injury could shed light on the etiology of this injury. We performed a genome-wide association screen using publically available data from the Research Program in Genes, Environment and Health including 8,357 cases of rotator cuff injury and 94,622 controls. We found rs71404070 to show a genome-wide significant association with rotator cuff injury with p = 2.31x10-8 and an odds ratio of 1.25 per allele. This SNP is located next to cadherin8, which encodes a protein involved in cell adhesion. We also attempted to validate previous gene association studies that had reported a total of 18 SNPs showing a significant association with rotator cuff injury. However, none of the 18 SNPs were validated in our dataset. rs71404070 may be informative in explaining why some individuals are more susceptible to rotator cuff injury than others.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>29228018</pmid><doi>10.1371/journal.pone.0189317</doi><tpages>e0189317</tpages><orcidid>https://orcid.org/0000-0001-8887-5095</orcidid><oa>free_for_read</oa></addata></record> |
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| source | Public Library of Science (PLoS) Journals Open Access; MEDLINE; DOAJ Directory of Open Access Journals; EZB-FREE-00999 freely available EZB journals; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Analysis Biology and Life Sciences Cell adhesion Chromosome Mapping Codes Consortia Developmental biology Epidemiology Etiology Gene loci Genetic aspects Genome-wide association studies Genome-Wide Association Study Genomes Health risks Humans Injuries Loci Medical research Medicine and Health Sciences Meta-analysis Methods Physical Sciences Polymorphism, Single Nucleotide Professional baseball Research and Analysis Methods Risk factors Rotator Cuff Injuries - genetics Rotator cuff repair Shoulder Single nucleotide polymorphisms Single-nucleotide polymorphism Sports injuries Studies Surgery |
| title | Genome-wide association study identifies a locus associated with rotator cuff injury |
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