{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T01:01:33Z","timestamp":1761181293272,"version":"build-2065373602"},"reference-count":48,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"am","delay-in-days":274,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","em-consulte.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Joint Bone Spine"],"published-print":{"date-parts":[[2023,9]]},"DOI":"10.1016\/j.jbspin.2023.105588","type":"journal-article","created":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T00:32:11Z","timestamp":1684283531000},"page":"105588","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Family studies: A useful tool to better understand spondyloarthritis"],"prefix":"10.1016","volume":"90","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1449-959X","authenticated-orcid":false,"given":"F\u00e9licie","family":"Costantino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maxime","family":"Breban","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jbspin.2023.105588_bib0245","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2200472119","article-title":"Family studies in the age of big data","volume":"119","author":"Almasy","year":"2022","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jbspin.2023.105588_bib0250","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1146\/annurev.pu.05.050184.000245","article-title":"Genetic epidemiology","volume":"5","author":"King","year":"1984","journal-title":"Ann Rev Public Health"},{"key":"10.1016\/j.jbspin.2023.105588_bib0255","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1136\/ard.59.11.883","article-title":"Recurrence risk modelling of the genetic susceptibility to ankylosing spondylitis","volume":"59","author":"Brown","year":"2000","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jbspin.2023.105588_bib0260","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1136\/ard.2008.089599","article-title":"Recurrence of spondylarthropathy among first-degree relatives of patients: a systematic cross-sectional study","volume":"68","author":"Dernis","year":"2009","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jbspin.2023.105588_bib0265","doi-asserted-by":"crossref","first-page":"1346","DOI":"10.1136\/ard.2009.125914","article-title":"A strong familiality of ankylosing spondylitis through several generations","volume":"69","author":"Geirsson","year":"2010","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jbspin.2023.105588_bib0270","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1093\/rheumatology\/ken184","article-title":"Concordant and discordant associations between rheumatoid arthritis, systemic lupus erythematosus and ankylosing spondylitis based on all hospitalizations in Sweden between 1973 and 2004","volume":"47","author":"Sundquist","year":"2008","journal-title":"Rheumatology (Oxford)"},{"key":"10.1016\/j.jbspin.2023.105588_bib0275","doi-asserted-by":"crossref","first-page":"1695","DOI":"10.1093\/rheumatology\/kez519","article-title":"Familial aggregation and heritability of ankylosing spondylitis\u00a0\u2013\u00a0a Swedish nested case-control study","volume":"59","author":"Morin","year":"2020","journal-title":"Rheumatology (Oxford)"},{"key":"10.1016\/j.jbspin.2023.105588_bib0280","doi-asserted-by":"crossref","first-page":"e002208","DOI":"10.1136\/rmdopen-2022-002208","article-title":"Recurrence of axial spondyloarthritis among first-degree relatives in a prospective 35-year-follow-up family study","volume":"8","author":"van der Linden","year":"2022","journal-title":"RMD Open"},{"key":"10.1016\/j.jbspin.2023.105588_bib0285","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1080\/03009740701824613","article-title":"Ankylosing spondylitis in Danish and Norwegian twins: occurrence and the relative importance of genetic vs. environmental effectors in disease causation","volume":"37","author":"Pedersen","year":"2008","journal-title":"Scand J Rheumatol"},{"key":"10.1016\/j.jbspin.2023.105588_bib0290","doi-asserted-by":"crossref","first-page":"1823","DOI":"10.1002\/art.1780401015","article-title":"Susceptibility to ankylosing spondylitis in twins: the role of genes, HLA, and the environment","volume":"40","author":"Brown","year":"1997","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.jbspin.2023.105588_bib0295","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1016\/S0140-6736(99)03219-5","article-title":"Impact of sex on inheritance of ankylosing spondylitis: a cohort study","volume":"354","author":"Calin","year":"1999","journal-title":"Lancet"},{"key":"10.1016\/j.jbspin.2023.105588_bib0300","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1016\/S0140-6736(05)72217-0","article-title":"Impact of sex on inheritance of ankylosing spondylitis","volume":"355","author":"Miceli-Richard","year":"2000","journal-title":"Lancet"},{"key":"10.1016\/j.jbspin.2023.105588_bib0305","doi-asserted-by":"crossref","first-page":"1168","DOI":"10.1136\/annrheumdis-2020-219446","article-title":"Polygenic Risk Scores have high diagnostic capacity in ankylosing spondylitis","volume":"80","author":"Li","year":"2021","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jbspin.2023.105588_bib0310","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/s41586-022-05620-1","article-title":"The person-to-person transmission landscape of the gut and oral microbiomes","volume":"614","author":"Valles-Colomer","year":"2023","journal-title":"Nature"},{"key":"10.1016\/j.jbspin.2023.105588_bib0315","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1093\/hmg\/ddh179","article-title":"Significant linkage to spondyloarthropathy on 9q31-34","volume":"13","author":"Miceli-Richard","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jbspin.2023.105588_bib0320","doi-asserted-by":"crossref","first-page":"2246","DOI":"10.1002\/art.20308","article-title":"Genetic studies in familial ankylosing spondylitis susceptibility","volume":"50","author":"Zhang","year":"2004","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.jbspin.2023.105588_bib0325","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1086\/319509","article-title":"Whole-genome screening in ankylosing spondylitis: evidence of non-MHC genetic-susceptibility loci","volume":"68","author":"Laval","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jbspin.2023.105588_bib0330","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1136\/annrheumdis-2015-207720","article-title":"Whole-genome single nucleotide polymorphism-based linkage analysis in spondyloarthritis multiplex families reveals a new susceptibility locus in 13q13","volume":"75","author":"Costantino","year":"2016","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jbspin.2023.105588_bib0335","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/ng.3528","article-title":"Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci","volume":"48","author":"Ellinghaus","year":"2016","journal-title":"Nat Genet"},{"key":"10.1016\/j.jbspin.2023.105588_bib0340","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1136\/annrheumdis-2016-209449","article-title":"A family-based genome-wide association study reveals an association of spondyloarthritis with MAPK14","volume":"76","author":"Costantino","year":"2017","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jbspin.2023.105588_bib0345","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1038\/nrg2809","article-title":"Missing heritability and strategies for finding the underlying causes of complex disease","volume":"11","author":"Eichler","year":"2010","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.jbspin.2023.105588_bib0350","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1038\/ng.f.136","article-title":"Common and rare variants in multifactorial susceptibility to common diseases","volume":"40","author":"Bodmer","year":"2008","journal-title":"Nat Genet"},{"key":"10.1016\/j.jbspin.2023.105588_bib0355","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1038\/ng.3941","article-title":"Concepts, estimation and interpretation of SNP-based heritability","volume":"49","author":"Yang","year":"2017","journal-title":"Nat Genet"},{"key":"10.1016\/j.jbspin.2023.105588_bib0360","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/npjgenmed.2016.8","article-title":"Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease","volume":"1","author":"Robinson","year":"2016","journal-title":"NPJ Genomic Med"},{"key":"10.1016\/j.jbspin.2023.105588_bib0365","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1136\/jmedgenet-2020-107003","article-title":"Assessing performance of pathogenicity predictors using clinically relevant variant datasets","volume":"58","author":"Gunning","year":"2021","journal-title":"J Med Genet"},{"key":"10.1016\/j.jbspin.2023.105588_bib0370","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1007\/s10545-018-0146-7","article-title":"The functional genomics laboratory: functional validation of genetic variants","volume":"41","author":"Rodenburg","year":"2018","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jbspin.2023.105588_bib0375","doi-asserted-by":"crossref","first-page":"1174","DOI":"10.1093\/rheumatology\/kez537","article-title":"A rare variant of RNF123 in familial ankylosing spondylitis causes dysfunction of osteoclast formation","volume":"59","author":"Liu","year":"2020","journal-title":"Rheumatology (Oxford)"},{"key":"10.1016\/j.jbspin.2023.105588_bib0380","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1136\/annrheumdis-2014-206484","article-title":"Private rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis","volume":"75","author":"O\u2019Rielly","year":"2016","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jbspin.2023.105588_bib0385","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/1471-2156-14-67","article-title":"UGT2B17 copy number gain in a large ankylosing spondylitis multiplex family","volume":"14","author":"Uddin","year":"2013","journal-title":"BMC Genet"},{"key":"10.1016\/j.jbspin.2023.105588_bib0390","doi-asserted-by":"crossref","first-page":"e0126348","DOI":"10.1371\/journal.pone.0126348","article-title":"A rare co-segregation-mutation in the insulin receptor substrate 1 gene in one Chinese family with ankylosing spondylitis","volume":"10","author":"Rong","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.jbspin.2023.105588_bib0395","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1186\/s12881-018-0622-9","article-title":"Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient","volume":"19","author":"Tan","year":"2018","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.jbspin.2023.105588_bib0400","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.gene.2018.05.057","article-title":"Genetic variants of TREML2 are associated with HLA-B27-positive ankylosing spondylitis","volume":"668","author":"Feng","year":"2018","journal-title":"Gene"},{"key":"10.1016\/j.jbspin.2023.105588_bib0405","doi-asserted-by":"crossref","first-page":"e1008038","DOI":"10.1371\/journal.pgen.1008038","article-title":"Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis","volume":"15","author":"Li","year":"2019","journal-title":"PLoS Genet"},{"key":"10.1016\/j.jbspin.2023.105588_bib0410","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1038\/s41431-020-0573-4","article-title":"Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS","volume":"28","author":"Garshasbi","year":"2020","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jbspin.2023.105588_bib0415","doi-asserted-by":"crossref","first-page":"105419","DOI":"10.1016\/j.jbspin.2022.105419","article-title":"Targeted resequencing of the 13q13 spondyloarthritis-linked locus identifies a rare variant in FREM2 possibly associated with familial spondyloarthritis","volume":"89","author":"Mambueni","year":"2022","journal-title":"Joint Bone Spine"},{"key":"10.1016\/j.jbspin.2023.105588_bib0420","doi-asserted-by":"crossref","first-page":"1939","DOI":"10.1007\/s10067-022-06100-7","article-title":"Diagnostic delay in axial spondyloarthritis: a systematic review","volume":"41","author":"Hay","year":"2022","journal-title":"Clin Rheumatol"},{"key":"10.1016\/j.jbspin.2023.105588_bib0425","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1136\/ard.2003.011247","article-title":"How to diagnose axial spondyloarthritis early","volume":"63","author":"Rudwaleit","year":"2004","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jbspin.2023.105588_bib0430","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1136\/ard.2010.133645","article-title":"The Assessment of SpondyloArthritis International Society classification criteria for peripheral spondyloarthritis and for spondyloarthritis in general","volume":"70","author":"Rudwaleit","year":"2011","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jbspin.2023.105588_bib0435","doi-asserted-by":"crossref","first-page":"ii1","DOI":"10.1136\/ard.2008.104018","article-title":"The Assessment of SpondyloArthritis international Society (ASAS) handbook: a guide to assess spondyloarthritis","volume":"68","author":"Sieper","year":"2009","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jbspin.2023.105588_bib0440","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1186\/s13075-017-1335-8","article-title":"Is the current ASAS expert definition of a positive family history useful in identifying axial spondyloarthritis? Results from the SPACE and DESIR cohorts","volume":"19","author":"Ez-Zaitouni","year":"2017","journal-title":"Arthritis Res Ther"},{"key":"10.1016\/j.jbspin.2023.105588_bib0445","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1186\/s13075-018-1672-2","article-title":"Do ethnicity, degree of family relationship, and the spondyloarthritis subtype in affected relatives influence the association between a positive family history for spondyloarthritis and HLA-B27 carriership? Results from the worldwide ASAS cohort","volume":"20","author":"van Lunteren","year":"2018","journal-title":"Arthritis Res Ther"},{"key":"10.1016\/j.jbspin.2023.105588_bib0450","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1093\/rheumatology\/kez095","article-title":"Is a positive family history of spondyloarthritis relevant for diagnosing axial spondyloarthritis once HLA-B27 status is known?","volume":"58","author":"van Lunteren","year":"2019","journal-title":"Rheumatology (Oxford)"},{"key":"10.1016\/j.jbspin.2023.105588_bib0455","first-page":"85","article-title":"[Criteria of the classification of spondylarthropathies]","volume":"57","author":"Amor","year":"1990","journal-title":"Rev Rhum Mal Osteoartic"},{"key":"10.1016\/j.jbspin.2023.105588_bib0460","doi-asserted-by":"crossref","first-page":"xv","DOI":"10.1016\/j.rdc.2014.09.001","article-title":"Preclinical rheumatic disease","volume":"40","author":"Bykerk","year":"2014","journal-title":"Rheum Dis Clin N Am"},{"key":"10.1016\/j.jbspin.2023.105588_bib0465","doi-asserted-by":"crossref","first-page":"2444","DOI":"10.1002\/art.39766","article-title":"Clinical and imaging signs of spondyloarthritis in first-degree relatives of HLA-B27-positive ankylosing spondylitis patients: the Pre-Spondyloarthritis (Pre-SpA) Cohort Study","volume":"68","author":"Turina","year":"2016","journal-title":"Arthritis Rheumatol"},{"key":"10.1016\/j.jbspin.2023.105588_bib0470","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1007\/s10067-018-4325-6","article-title":"First-degree relatives of axial spondyloarthritis patients of the pre-SpA cohort would consider using medication in a preventive setting","volume":"38","author":"de Winter","year":"2019","journal-title":"Clin Rheumatol"},{"key":"10.1016\/j.jbspin.2023.105588_bib0475","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1002\/acr.24743","article-title":"Progression from subclinical inflammation to overt spondyloarthritis in first-degree relatives of patients in association with HLA-B27: the Pre-Spondyloarthritis Cohort","volume":"74","author":"de Jong","year":"2022","journal-title":"Arthritis Care Res (Hoboken)"},{"key":"10.1016\/j.jbspin.2023.105588_bib0480","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1136\/annrheumdis-2021-222083","article-title":"Factors predicting axial spondyloarthritis among first-degree relatives of probands with ankylosing spondylitis: a family study spanning 35 years","volume":"81","author":"van der Linden","year":"2022","journal-title":"Ann Rheum Dis"}],"container-title":["Joint Bone Spine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1297319X23000672?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1297319X23000672?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T16:31:23Z","timestamp":1761150683000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1297319X23000672"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9]]},"references-count":48,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["S1297319X23000672"],"URL":"https:\/\/doi.org\/10.1016\/j.jbspin.2023.105588","relation":{},"ISSN":["1297-319X"],"issn-type":[{"type":"print","value":"1297-319X"}],"subject":[],"published":{"date-parts":[[2023,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Family studies: A useful tool to better understand spondyloarthritis","name":"articletitle","label":"Article Title"},{"value":"Joint Bone Spine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jbspin.2023.105588","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Soci\u00e9t\u00e9 fran\u00e7aise de rhumatologie. Published by Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"105588"}}