{"id":"https://openalex.org/W4387952255","doi":"https://doi.org/10.1055/s-0043-1771811","title":"Einbeziehung der mit der Fettleber assoziierten Varianten in die klinische Untersuchung von Patienten: Ergebnisse einer achtj\u00e4hrigen Erfahrung in einem terti\u00e4ren Referenzzentrum mit Genotypisierungsm\u00f6glichkeit","display_name":"Einbeziehung der mit der Fettleber assoziierten Varianten in die klinische Untersuchung von Patienten: Ergebnisse einer achtj\u00e4hrigen Erfahrung in einem terti\u00e4ren Referenzzentrum mit Genotypisierungsm\u00f6glichkeit","publication_year":2023,"publication_date":"2023-08-01","ids":{"openalex":"https://openalex.org/W4387952255","doi":"https://doi.org/10.1055/s-0043-1771811"},"language":"de","primary_location":{"id":"doi:10.1055/s-0043-1771811","doi":"https://doi.org/10.1055/s-0043-1771811","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-0043-1771811","pdf_url":null,"source":{"id":"https://openalex.org/S189922908","display_name":"Zeitschrift f\u00fcr Gastroenterologie","issn_l":"0044-2771","issn":["0044-2771","1439-7803"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Zeitschrift f\u00fcr Gastroenterologie","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5025005939","display_name":"SN Weber","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210094678","display_name":"Universit\u00e4tsklinikum des Saarlandes","ror":"https://ror.org/00nvxt968","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094678"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"S. N. Weber","raw_affiliation_strings":["Klinik f\u00fcr Innere Medizin II \u2013 Gastroenterologie und Endokrinologie, Homburg, Deutschland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Klinik f\u00fcr Innere Medizin II \u2013 Gastroenterologie und Endokrinologie, Homburg, Deutschland","institution_ids":["https://openalex.org/I4210094678"]}]},{"author_position":"middle","author":{"id":null,"display_name":"M. Straub","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210094678","display_name":"Universit\u00e4tsklinikum des Saarlandes","ror":"https://ror.org/00nvxt968","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094678"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"M. Straub","raw_affiliation_strings":["Klinik f\u00fcr Innere Medizin II \u2013 Gastroenterologie und Endokrinologie, Homburg, Deutschland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Klinik f\u00fcr Innere Medizin II \u2013 Gastroenterologie und Endokrinologie, Homburg, Deutschland","institution_ids":["https://openalex.org/I4210094678"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013003026","display_name":"Frank Lammert","orcid":"https://orcid.org/0000-0003-4450-7201","observed_orcids":["https://orcid.org/0000-0003-4450-7201"]},"institutions":[{"id":"https://openalex.org/I34809795","display_name":"Medizinische Hochschule Hannover","ror":"https://ror.org/00f2yqf98","country_code":"DE","type":"education","lineage":["https://openalex.org/I34809795"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"F. Lammert","raw_affiliation_strings":["Medizinische Hochschule Hannover (MHH), Hannover, Deutschland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medizinische Hochschule Hannover (MHH), Hannover, Deutschland","institution_ids":["https://openalex.org/I34809795"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103260569","display_name":"M. Krawczyk","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210094678","display_name":"Universit\u00e4tsklinikum des Saarlandes","ror":"https://ror.org/00nvxt968","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094678"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"M. Krawczyk","raw_affiliation_strings":["Klinik f\u00fcr Innere Medizin II \u2013 Gastroenterologie und Endokrinologie, Homburg, Deutschland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Klinik f\u00fcr Innere Medizin II \u2013 Gastroenterologie und Endokrinologie, Homburg, Deutschland","institution_ids":["https://openalex.org/I4210094678"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"61","issue":"08","first_page":"e451","last_page":"e451"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10351","display_name":"Liver Disease Diagnosis and Treatment","score":0.9955999851226807,"subfield":{"id":"https://openalex.org/subfields/2721","display_name":"Hepatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10351","display_name":"Liver Disease Diagnosis and Treatment","score":0.9955999851226807,"subfield":{"id":"https://openalex.org/subfields/2721","display_name":"Hepatology"},"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T13984","display_name":"Nutrition, Genetics, and Disease","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/non-alcoholic-fatty-liver-disease","display_name":"non-alcoholic fatty liver disease","score":0.7919999957084656},{"id":"https://openalex.org/keywords/pnpla3-i148m","display_name":"PNPLA3 I148M","score":0.8949999809265137},{"id":"https://openalex.org/keywords/genetic-variants","display_name":"genetic variants","score":0.7799999713897705},{"id":"https://openalex.org/keywords/hepatic-steatosis","display_name":"hepatic steatosis","score":0.7049999833106995},{"id":"https://openalex.org/keywords/liver-fibrosis","display_name":"liver fibrosis","score":0.9850000143051147},{"id":"https://openalex.org/keywords/controlled-attenuation-parameter","display_name":"controlled attenuation parameter","score":0.9700000286102295},{"id":"https://openalex.org/keywords/transient-elastography","display_name":"transient elastography","score":0.9919999837875366},{"id":"https://openalex.org/keywords/minor-allele-frequency","display_name":"minor allele frequency","score":0.593999981880188},{"id":"https://openalex.org/keywords/iron-levels","display_name":"iron levels","score":0.38499999046325684},{"id":"https://openalex.org/keywords/transferrin","display_name":"transferrin","score":0.6669999957084656},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.5440000295639038},{"id":"https://openalex.org/keywords/genetic-testing-in-clinical-practice","display_name":"genetic testing in clinical practice","score":0.5690000057220459}],"concepts":[{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.39503300189971924},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3252764642238617}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1055/s-0043-1771811","doi":"https://doi.org/10.1055/s-0043-1771811","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-0043-1771811","pdf_url":null,"source":{"id":"https://openalex.org/S189922908","display_name":"Zeitschrift f\u00fcr Gastroenterologie","issn_l":"0044-2771","issn":["0044-2771","1439-7803"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Zeitschrift f\u00fcr Gastroenterologie","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2968732769","https://openalex.org/W2784348961","https://openalex.org/W2968606292","https://openalex.org/W2567407086","https://openalex.org/W2566091190","https://openalex.org/W2567603921","https://openalex.org/W4412008027","https://openalex.org/W2790907334","https://openalex.org/W2618857571","https://openalex.org/W1490917605"],"abstract_inverted_index":{"Einleitung":[0],"und":[1,62,107,117,130,137,164,237,269],"Ziele":[2],"Genetische":[3],"Tests":[4],"sind":[5],"in":[6,21,144,262],"der":[7,36,81,118,127,145,154,249,255,263],"klinischen":[8,264],"Praxis":[9,265],"zunehmend":[10],"verf\u00fcgbar.":[11],"In":[12],"unserer":[13],"Abteilung":[14],"wird":[15],"die":[16,22,34,55,74,188,203,246],"Genotypisierung":[17,100,258],"von":[18,25,44,80,142,161,171],"Fettleber-assoziierten":[19,57],"Varianten":[20,38,58,152],"klinische":[23],"Abkl\u00e4rung":[24],"Leberpatienten":[26],"seit":[27],"2013":[28],"miteinbezogen.":[29],"Ziel":[30],"dieser":[31,200,259],"Analyse":[32],"war":[33],"Assoziation":[35],"genetischen":[37],"mit":[39,51,110,158,215,221,273],"verschiedenen":[40],"Fettleber-Ph\u00e4notypen":[41],"im":[42,166],"Zeitraum":[43],"2013-2021.":[45],"Methode":[46],"Insgesamt":[47],"wurden":[48,109],"462":[49],"Patienten":[50,272],"Fettleber-Ph\u00e4notypen,":[52],"bei":[53,174],"denen":[54],"beiden":[56],"PNPLA3":[59,156,250],"p.I148M":[60,157],"(rs738409)":[61],"MBOAT7":[63,212],"p.E17G":[64,213],"(rs641738)":[65],"genotypisiert":[66],"wurden,":[67],"analysiert.":[68],"Zus\u00e4tzlich":[69],"zu":[70,277],"unserem":[71],"Panel":[72],"wurde":[73,101,214],"MTARC1":[75,235],"-Variante":[76],"p.A165T":[77],"(rs2642438)":[78],"genotypisiert,":[79],"k\u00fcrzlich":[82],"gezeigt":[83],"wurde,":[84],"dass":[85],"sie":[86],"sch\u00fctzende":[87],"Auswirkungen":[88,199],"auf":[89,202],"den":[90,143,150,175,222,253],"Leberstatus":[91,276],"hat":[92],"(Fairfield":[93],"et":[94],"al,":[95],"Hepatol":[96],"Commun.":[97],"2022).":[98],"Die":[99,124,208,257],"mittels":[102],"allelischer":[103],"Diskriminierung":[104],"durchgef\u00fchrt.":[105],"Lebersteatose":[106],"Fibrose":[108],"Hilfe":[111],"des":[112,190],"\u201econtrolled":[113],"attenuation":[114],"parameters\u201c":[115],"(CAP)":[116],"transienten":[119],"Elastographie":[120],"(TE)":[121],"quantifiziert.":[122],"Ergebnisse":[123],"Minor-Allel-Frequenz":[125],"(MAF)":[126],"PNPLA3-,":[128],"MBOAT7-":[129],"MTARC1-Varianten":[131],"betrug":[132],"25,2%,":[133],"40,8%,":[134],"bzw.":[135],"21,5%":[136],"unterschied":[138],"sich":[139,229],"nicht":[140,220],"wesentlich":[141],"Literatur":[146],"verf\u00fcgbaren":[147],"Daten.":[148],"Unter":[149],"getesteten":[151],"korrelierte":[153],"Genotyp":[155],"einer":[159],"Erh\u00f6hung":[160],"ALT,":[162],"AST":[163],"Transferrin":[165],"Serum":[167],"(alle":[168,224],"P<0,01)":[169,186],"sowie":[170],"Eisen":[172],"(P=0,02)":[173],"homozygoten":[176],"[MM]-Tr\u00e4gern.":[177],"Diese":[178],"wiesen":[179],"auch":[180],"einen":[181],"h\u00f6heren":[182],"CAP":[183],"(299\u00b162":[184],"db/m,":[185],"als":[187],"Tr\u00e4ger":[189],"Wildtyp-Allels":[191],"(267\u00b174":[192],"db/m)":[193],"auf,":[194],"allerdings":[195],"konnten":[196],"keine":[197,230],"wesentlichen":[198],"Variante":[201,260],"Lebersteifigkeit":[204],"(P=0,09)":[205],"festgestellt":[206],"werden.":[207],"einzige":[209],"Korrelation":[210],"f\u00fcr":[211,252],"erh\u00f6hten":[216],"Leukozytenwerten":[217],"(P=0,02),":[218],"aber":[219],"Leberph\u00e4notypen":[223],"P>0,05)":[225],"gefunden.":[226],"Au\u00dferdem":[227],"zeigten":[228],"relevanten":[231],"Zusammenh\u00e4nge":[232],"zwischen":[233],"dem":[234],"-Polymorphismus":[236],"Lebersteatose,":[238],"Fibrosemarkern":[239],"oder":[240],"Patientenmerkmalen.":[241],"Schlussfolgerung":[242],"Unsere":[243],"Daten":[244],"unterstreichen":[245],"zentrale":[247],"Rolle":[248],"p.I148M-Variante":[251],"Ph\u00e4notyp":[254],"Fettleber.":[256],"kann":[261],"schnell":[266],"durchgef\u00fchrt":[267],"werden":[268],"dazu":[270],"beitragen,":[271],"einem":[274],"schlechteren":[275],"erkennen.":[278],"Publication":[279],"History":[280],"Article":[281],"published":[282],"online:":[283],"28":[284],"August":[285],"2023":[286],"\u00a9":[287],"2023.":[288],"Thieme.":[289],"All":[290],"rights":[291],"reserved.":[292],"Georg":[293],"Thieme":[294],"Verlag":[295],"R\u00fcdigerstra\u00dfe":[296],"14,":[297],"70469":[298],"Stuttgart,":[299],"Germany":[300]},"counts_by_year":[],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2023-10-27T00:00:00"}