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dc.contributor.authorJacobsen, Kaya Kvarme
dc.contributor.authorBørte, Sigrid
dc.contributor.authorLaborie, Lene Bjerke
dc.contributor.authorKristiansen, Hege
dc.contributor.authorSchäfer, Annette
dc.contributor.authorGundersen, Trude
dc.contributor.authorZayats, Tetyana
dc.contributor.authorWinsvold, Bendik Kristoffer Slagsvold
dc.contributor.authorMartinsen, Amy
dc.contributor.authorSkogholt, Anne Heidi
dc.contributor.authorBrumpton, Ben Michael
dc.contributor.authorWiller, Cristen J
dc.contributor.authorFors, Egil Andreas
dc.contributor.authorKristoffersen, Espen Saxhaug
dc.contributor.authorHeuch, Ingrid
dc.contributor.authorMundal, Ingunn Pernille
dc.contributor.authorZwart, John Anker Henrik
dc.contributor.authorNielsen, Jonas B.
dc.contributor.authorStorheim, Kjersti
dc.contributor.authorHagen, Knut
dc.contributor.authorNilsen, Kristian Bernhard
dc.contributor.authorHveem, Kristian
dc.contributor.authorFritsche, Lars G
dc.contributor.authorThomas, Laurent Francois
dc.contributor.authorPedersen, Linda Margareth
dc.contributor.authorGabrielsen, Maiken Elvestad
dc.contributor.authorLie, Marie U.
dc.contributor.authorStensland, Synne
dc.contributor.authorZhou, Wei
dc.contributor.authorRosendahl, Karen
dc.date.accessioned2024-01-11T09:55:44Z
dc.date.available2024-01-11T09:55:44Z
dc.date.issued2023-12-16
dc.description.abstractObjective: Developmental dysplasia of the hip (DDH) is a congenital condition affecting 2-3% of all infants. DDH increases the risk of osteoarthritis, is the cause of 30% of all total hip arthroplasties (THAs) in adults <40 years of age and can result in loss of life quality. Our aim was to explore the genetic background of DDH in order to improve diagnosis, management and longterm outcome.<p><p> Design: We used the large, ongoing, longitudinal Trøndelag Health Study (HUNT) database. Case definition was based on ICD-9/-10 diagnoses of DDH, or osteoarthritis secondary to DDH. Analyses were performed using SAIGE software, with covariates including sex, batch, birth year and principal components. We included only single nucleotide polymorphisms (SNPs) with minor allele frequency (MAF) 0.01, R<sup>2</sup> 0.8 and Hardy-Weinberg equilibrium (HWE) P-value 0.0001. Significance level was set at p < 5x10<sup>-8</sup>. Meta-analysis using data from DDH and primary osteoarthritis genome-wide association studies (GWASs) was done using METAL software. The study was approved by the regional ethical committee. <p>Results: Analysis included 69,500 individuals, of which 408 cases, and 8,531,386 SNPs. Two SNPs near COL11A1 were significantly associated with DDH; rs713162 ( = -0.43, SE = 0.07, p = 8.4x10-9) and rs6577334 ( = -0.43, SE = 0.08, p = 8.9x10<sup>-9</sup>). COL11A1 has previously been associated with acetabular dysplasia and osteoarthritis. Meta-analysis supported previous GWAS findings of both DDH and primary osteoarthritis. <p >Conclusions: This large, genome-wide case-control study indicates an association between COL11A1 and DDH and is an important contribution to investigating the etiology of DDH, with further research needed.en_US
dc.identifier.citationJacobsen, Børte, Laborie, Kristiansen, Schäfer, Gundersen, Zayats, Winsvold, Karen, Martinsen, Skogholt, Brumpton, Willer, Fors, Kristoffersen, Heuch, Mundal, Zwart, Nielsen, Storheim, Hagen, Nilsen, Hveem, Fritsche, Thomas, Pedersen, Gabrielsen, Lie, Stensland, Zhou. COL11A1 is associated with developmental dysplasia of the hip and secondary osteoarthritis in the HUNT study. Osteoarthritis and Cartilage Open. 2023;6(1)en_US
dc.identifier.cristinIDFRIDAID 2218215
dc.identifier.doi10.1016/j.ocarto.2023.100424
dc.identifier.issn2665-9131
dc.identifier.urihttps://hdl.handle.net/10037/32415
dc.language.isoengen_US
dc.publisherElsevieren_US
dc.relation.journalOsteoarthritis and Cartilage Open
dc.relation.urihttps://doi.org/10.1016/j.ocarto.2023.100424
dc.rights.accessRightsopenAccessen_US
dc.rights.holderCopyright 2023 The Author(s)en_US
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0en_US
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)en_US
dc.titleCOL11A1 is associated with developmental dysplasia of the hip and secondary osteoarthritis in the HUNT studyen_US
dc.type.versionpublishedVersionen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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