{"id":"https://openalex.org/W7166222015","doi":"https://doi.org/10.1177/09733698261458203","title":"Genotype-phenotype Interactions and Autoimmune Comorbidities in Adult Familial Mediterranean Fever: A Retrospective Cohort Study of 786 Patients","display_name":"Genotype-phenotype Interactions and Autoimmune Comorbidities in Adult Familial Mediterranean Fever: A Retrospective Cohort Study of 786 Patients","publication_year":2026,"publication_date":"2026-06-25","ids":{"openalex":"https://openalex.org/W7166222015","doi":"https://doi.org/10.1177/09733698261458203"},"language":"en","primary_location":{"id":"doi:10.1177/09733698261458203","doi":"https://doi.org/10.1177/09733698261458203","is_oa":true,"landing_page_url":"https://doi.org/10.1177/09733698261458203","pdf_url":null,"source":{"id":"https://openalex.org/S5246876","display_name":"Indian Journal of Rheumatology","issn_l":"0973-3698","issn":["0973-3698","0973-3701"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1"],"host_organization":"https://openalex.org/P4310320448","host_organization_name":"Medknow","host_organization_lineage":["https://openalex.org/P4310320448","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Medknow","Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Indian Journal of Rheumatology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://doi.org/10.1177/09733698261458203","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5000342822","display_name":"Bet\u00fcl Sar\u0131 Kal\u0131n","orcid":"https://orcid.org/0000-0003-2924-9486","observed_orcids":["https://orcid.org/0000-0003-2924-9486"]},"institutions":[{"id":"https://openalex.org/I1303077703","display_name":"Ministry of Health","ror":"https://ror.org/00pkvys92","country_code":"TR","type":"government","lineage":["https://openalex.org/I1303077703"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Bet\u00fcl Sar\u0131 Kal\u0131n","raw_affiliation_strings":["Malkara State Hospital, Tekirdag\u02c7, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0003-2924-9486","affiliations":[{"raw_affiliation_string":"Malkara State Hospital, Tekirdag\u02c7, T\u00fcrkiye","institution_ids":["https://openalex.org/I1303077703"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047244168","display_name":"Ne\u015fe \u00c7abuk \u00c7elik","orcid":"https://orcid.org/0000-0002-9045-7105","observed_orcids":["https://orcid.org/0000-0002-9045-7105"]},"institutions":[{"id":"https://openalex.org/I4405255448","display_name":"Sincan Training and Research Hospital","ror":"https://ror.org/030z8x523","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I1303077703","https://openalex.org/I4405255448"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Ne\u015fe \u00c7abuk \u00c7elik","raw_affiliation_strings":["Department of Rheumatology, Sincan Training and Research Hospital, Ankara, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0002-9045-7105","affiliations":[{"raw_affiliation_string":"Department of Rheumatology, Sincan Training and Research Hospital, Ankara, T\u00fcrkiye","institution_ids":["https://openalex.org/I4405255448"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021367057","display_name":"R\u00fcmeysa G\u00f6\u00e7","orcid":"https://orcid.org/0000-0001-5105-6264","observed_orcids":["https://orcid.org/0000-0001-5105-6264"]},"institutions":[{"id":"https://openalex.org/I4210128276","display_name":"Sa\u011fl\u0131k Bilimleri \u00dcniversitesi","ror":"https://ror.org/03k7bde87","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210128276"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"R\u00fcmeysa Y\u0131lmaz G\u00f6\u00e7","raw_affiliation_strings":["Medical Histology and Embryology Clinic, Kayseri City Hospital, University of Health Sciences, Kayseri, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0001-5105-6264","affiliations":[{"raw_affiliation_string":"Medical Histology and Embryology Clinic, Kayseri City Hospital, University of Health Sciences, Kayseri, T\u00fcrkiye","institution_ids":["https://openalex.org/I4210128276"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064155652","display_name":"Serpil Albayrak","orcid":"https://orcid.org/0000-0003-3368-6451","observed_orcids":["https://orcid.org/0000-0003-3368-6451"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Serpil Albayrak","raw_affiliation_strings":["Department of Paediatric Endocrinology, Cengiz G\u00f6k\u00e7ek Maternity and Child Diseases Hospital, Gaziantep, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0003-3368-6451","affiliations":[{"raw_affiliation_string":"Department of Paediatric Endocrinology, Cengiz G\u00f6k\u00e7ek Maternity and Child Diseases Hospital, Gaziantep, T\u00fcrkiye","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100662390","display_name":"Ali \u015eahin","orcid":"https://orcid.org/0000-0003-0743-5288","observed_orcids":["https://orcid.org/0000-0003-0743-5288"]},"institutions":[{"id":"https://openalex.org/I12700597","display_name":"Sivas Cumhuriyet \u00dcniversitesi","ror":"https://ror.org/04f81fm77","country_code":"TR","type":"education","lineage":["https://openalex.org/I12700597"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ali \u015eahin","raw_affiliation_strings":["Department of Rheumatology, Faculty of Medicine, Sivas Cumhuriyet University, Sivas, T\u00fcrkiye"],"raw_orcid":"https://orcid.org/0000-0003-0743-5288","affiliations":[{"raw_affiliation_string":"Department of Rheumatology, Faculty of Medicine, Sivas Cumhuriyet University, Sivas, T\u00fcrkiye","institution_ids":["https://openalex.org/I12700597"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5047244168"],"corresponding_institution_ids":["https://openalex.org/I4405255448"],"apc_list":{"value":0,"currency":"USD","value_usd":0},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.42021236,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11616","display_name":"Autoimmune and Inflammatory Disorders Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10498","display_name":"Migraine and Headache Studies","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/familial-mediterranean-fever","display_name":"familial Mediterranean fever","score":0.9980000257492065},{"id":"https://openalex.org/keywords/mefv-mutations","display_name":"MEFV mutations","score":0.8489999771118164},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8859999775886536},{"id":"https://openalex.org/keywords/autoimmune-comorbidity","display_name":"autoimmune disease comorbidity","score":0.9660000205039978},{"id":"https://openalex.org/keywords/ankylosing-spondylitis","display_name":"ankylosing spondylitis","score":0.9589999914169312},{"id":"https://openalex.org/keywords/colchicine-resistance","display_name":"colchicine resistance","score":0.9879999756813049},{"id":"https://openalex.org/keywords/il-1-inhibitors","display_name":"IL-1 inhibitors","score":0.9860000014305115},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.8090000152587891},{"id":"https://openalex.org/keywords/joint-pain","display_name":"joint pain","score":0.7860000133514404},{"id":"https://openalex.org/keywords/adult-patients","display_name":"adult patients","score":0.6930000185966492}],"concepts":[{"id":"https://openalex.org/C2779537928","wikidata":"https://www.wikidata.org/wiki/Q1144618","display_name":"Familial Mediterranean fever","level":3,"score":0.9786999821662903},{"id":"https://openalex.org/C2781145326","wikidata":"https://www.wikidata.org/wiki/Q14881867","display_name":"MEFV","level":5,"score":0.9710000157356262},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9532999992370605},{"id":"https://openalex.org/C2777402515","wikidata":"https://www.wikidata.org/wiki/Q52849","display_name":"Ankylosing spondylitis","level":2,"score":0.6424000263214111},{"id":"https://openalex.org/C2776636253","wikidata":"https://www.wikidata.org/wiki/Q326224","display_name":"Colchicine","level":2,"score":0.641700029373169},{"id":"https://openalex.org/C167135981","wikidata":"https://www.wikidata.org/wiki/Q2146302","display_name":"Retrospective cohort study","level":2,"score":0.6119999885559082},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5230000019073486},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5062000155448914},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.48969998955726624},{"id":"https://openalex.org/C2780955771","wikidata":"https://www.wikidata.org/wiki/Q183425","display_name":"Abdominal pain","level":2,"score":0.4846000075340271},{"id":"https://openalex.org/C2779159551","wikidata":"https://www.wikidata.org/wiki/Q1414874","display_name":"Comorbidity","level":2,"score":0.4677000045776367},{"id":"https://openalex.org/C2779075594","wikidata":"https://www.wikidata.org/wiki/Q8084905","display_name":"Autoimmune disease","level":3,"score":0.37929999828338623},{"id":"https://openalex.org/C201903717","wikidata":"https://www.wikidata.org/wiki/Q1778788","display_name":"Cohort study","level":2,"score":0.36570000648498535},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.36079999804496765},{"id":"https://openalex.org/C2776820843","wikidata":"https://www.wikidata.org/wiki/Q581349","display_name":"Serositis","level":3,"score":0.33820000290870667},{"id":"https://openalex.org/C2776912625","wikidata":"https://www.wikidata.org/wiki/Q1485","display_name":"Systemic lupus erythematosus","level":3,"score":0.32850000262260437},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.320499986410141},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.31380000710487366},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.2971999943256378},{"id":"https://openalex.org/C198451711","wikidata":"https://www.wikidata.org/wiki/Q327657","display_name":"Rheumatology","level":2,"score":0.2802000045776367},{"id":"https://openalex.org/C205545832","wikidata":"https://www.wikidata.org/wiki/Q17156455","display_name":"Young adult","level":2,"score":0.26829999685287476},{"id":"https://openalex.org/C2775941666","wikidata":"https://www.wikidata.org/wiki/Q7113759","display_name":"Overlap syndrome","level":3,"score":0.26829999685287476},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.26030001044273376},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.25600001215934753}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1177/09733698261458203","doi":"https://doi.org/10.1177/09733698261458203","is_oa":true,"landing_page_url":"https://doi.org/10.1177/09733698261458203","pdf_url":null,"source":{"id":"https://openalex.org/S5246876","display_name":"Indian Journal of Rheumatology","issn_l":"0973-3698","issn":["0973-3698","0973-3701"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1"],"host_organization":"https://openalex.org/P4310320448","host_organization_name":"Medknow","host_organization_lineage":["https://openalex.org/P4310320448","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Medknow","Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Indian Journal of Rheumatology","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1177/09733698261458203","doi":"https://doi.org/10.1177/09733698261458203","is_oa":true,"landing_page_url":"https://doi.org/10.1177/09733698261458203","pdf_url":null,"source":{"id":"https://openalex.org/S5246876","display_name":"Indian Journal of Rheumatology","issn_l":"0973-3698","issn":["0973-3698","0973-3701"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1"],"host_organization":"https://openalex.org/P4310320448","host_organization_name":"Medknow","host_organization_lineage":["https://openalex.org/P4310320448","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Medknow","Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Indian Journal of Rheumatology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.6466774344444275}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":23,"referenced_works":["https://openalex.org/W1975425260","https://openalex.org/W2002645736","https://openalex.org/W2043528743","https://openalex.org/W2056088720","https://openalex.org/W2074580772","https://openalex.org/W2131709106","https://openalex.org/W2138955407","https://openalex.org/W2140276493","https://openalex.org/W2167353300","https://openalex.org/W2229424225","https://openalex.org/W2262791344","https://openalex.org/W2335365256","https://openalex.org/W2509208582","https://openalex.org/W2523397474","https://openalex.org/W2579297793","https://openalex.org/W2601296977","https://openalex.org/W2763597778","https://openalex.org/W2790924625","https://openalex.org/W2791074727","https://openalex.org/W2972433301","https://openalex.org/W3004483793","https://openalex.org/W3008408616","https://openalex.org/W3081214708"],"related_works":[],"abstract_inverted_index":{"Background:":[0],"Familial":[1],"Mediterranean":[2,19],"fever":[3,20],"(FMF)":[4],"is":[5],"a":[6,69],"monogenic":[7],"autoinflammatory":[8],"disorder":[9],"characterised":[10,45],"by":[11,140,212],"recurrent":[12],"febrile":[13],"attacks":[14],"and":[15,34,57,62,104,143,161,195,216,228],"serosal":[16],"inflammation.":[17],"Although":[18],"gene":[21,23],"(MEFV)":[22],"mutations":[24,184,222],"are":[25,223],"central":[26],"to":[27,40,53,58,87,106],"disease":[28,41,156,227],"pathogenesis,":[29],"considerable":[30],"phenotypic":[31],"heterogeneity":[32,210],"exists":[33],"the":[35,60,88,126,133,176],"contribution":[36],"of":[37,65,72,170,188],"autoimmune":[38,66,218,234],"comorbidities":[39,67,165,235],"expression":[42],"remains":[43],"insufficiently":[44],"in":[46,68,168,241],"adult":[47,73,82,242],"populations.":[48],"Objective:":[49],"This":[50],"study":[51],"aimed":[52],"evaluate":[54],"genotype-phenotype":[55],"associations":[56],"assess":[59],"frequency":[61,160],"clinical":[63,96,136,209],"impact":[64],"large":[70],"cohort":[71],"patients":[74,84],"with":[75,154,172,181,225],"FMF.":[76],"Methods:":[77],"We":[78],"retrospectively":[79],"analysed":[80],"786":[81],"FMF":[83,206,243],"diagnosed":[85],"according":[86],"Tel-Hashomer":[89],"criteria.":[90],"Demographic":[91],"characteristics,":[92],"MEFV":[93,146],"mutation":[94],"profiles,":[95],"manifestations":[97],"during":[98],"attacks,":[99],"acute-phase":[100],"reactants,":[101],"treatment":[102,229,239],"regimens":[103],"response":[105],"colchicine":[107,162,189],"were":[108,113,120,151,166],"systematically":[109],"recorded.":[110],"Genetic":[111],"analyses":[112,119],"performed":[114],"using":[115,122],"sequencing-based":[116],"methods.":[117],"Statistical":[118,123],"conducted":[121],"Package":[124],"for":[125,233],"Social":[127],"Sciences":[128],"software.":[129],"Results:":[130],"Arthralgia":[131],"was":[132],"most":[134,177],"frequent":[135],"manifestation":[137],"(89.8%),":[138],"followed":[139],"abdominal":[141],"pain":[142],"myalgia.":[144],"Homozygous":[145,220],"mutations,":[147],"particularly":[148],"M694V":[149,183,221],"homozygosity,":[150],"significantly":[152],"associated":[153,224],"increased":[155],"severity,":[157],"higher":[158,186],"attack":[159],"resistance.":[163,230],"Autoimmune":[164],"identified":[167],"30.4%":[169],"patients,":[171],"ankylosing":[173],"spondylitis":[174],"being":[175],"common":[178],"(19.8%).":[179],"Patients":[180],"homozygous":[182],"exhibited":[185],"rates":[187],"resistance":[190],"(":[191,201],"P":[192,202],"=":[193,203],".021)":[194],"required":[196],"interleukin-1":[197],"inhibitors":[198],"more":[199],"frequently":[200],".003).":[204],"Conclusion:":[205],"exhibits":[207],"marked":[208],"influenced":[211],"both":[213],"genetic":[214],"background":[215],"coexisting":[217],"conditions.":[219],"severe":[226],"Routine":[231],"evaluation":[232],"may":[236],"facilitate":[237],"individualised":[238],"strategies":[240],"patients.":[244]},"counts_by_year":[],"updated_date":"2026-10-02T10:15:12.560889","created_date":"2026-06-27T00:00:00"}
