Familial associations between autoimmune hepatitis and primary biliary cholangitis and other autoimmune diseases
Autoimmune hepatitis (AH) and primary biliary cirrhosis (PBC) are autoimmune diseases (AIDs) targeting cellular components of the liver. Being rare diseases, limited data are available about familial risks among these AIDs (concordant) or between them and other AIDs (discordant). We aimed to carry o...
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| description | Autoimmune hepatitis (AH) and primary biliary cirrhosis (PBC) are autoimmune diseases (AIDs) targeting cellular components of the liver. Being rare diseases, limited data are available about familial risks among these AIDs (concordant) or between them and other AIDs (discordant). We aimed to carry out an unbiased study on these AIDs based on medically diagnosed patients. We collected data on patients diagnosed in Swedish hospitals with AH, PBC and other AIDs and calculated familial standardized incidence ratios (SIRs) for concordant and discordant familial relative risks. The number of AH patients was 6,269, of whom 43.0% were male; patient numbers for PBC were 4,269, with 17.8% males. AH accounted for 0.8% and 0.6% of all hospitalized AIDs in Sweden. For AH only the familial risk between siblings was significant (3.83). For PBC the risks for offspring of parents (9.05) and siblings (10.88) were high, but only risk for females was significant. Spousal risks were very high, 5.91 and 6.07 for AH. Risk for AH was 2.21 in families of PBC, and it was 2.47 for PBC in families of AH patients. Among other AIDs, 14 showed a significant association with AH, compared to 16 AIDs with PBC. The surprising finding in this nation-wide family study on medically diagnosed patients was the high risk for AH (6.0) between spouses, which exceed the risk between siblings, suggesting the existence of strong environmental risk factors. AH and PBC were associated with multiple other AIDs. The results call attention to environmental factors in AID etiology which should also be in focus in taking anamnestic data from patients. |
| doi_str_mv | 10.1371/journal.pone.0240794 |
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Being rare diseases, limited data are available about familial risks among these AIDs (concordant) or between them and other AIDs (discordant). We aimed to carry out an unbiased study on these AIDs based on medically diagnosed patients. We collected data on patients diagnosed in Swedish hospitals with AH, PBC and other AIDs and calculated familial standardized incidence ratios (SIRs) for concordant and discordant familial relative risks. The number of AH patients was 6,269, of whom 43.0% were male; patient numbers for PBC were 4,269, with 17.8% males. AH accounted for 0.8% and 0.6% of all hospitalized AIDs in Sweden. For AH only the familial risk between siblings was significant (3.83). For PBC the risks for offspring of parents (9.05) and siblings (10.88) were high, but only risk for females was significant. Spousal risks were very high, 5.91 and 6.07 for AH. Risk for AH was 2.21 in families of PBC, and it was 2.47 for PBC in families of AH patients. Among other AIDs, 14 showed a significant association with AH, compared to 16 AIDs with PBC. The surprising finding in this nation-wide family study on medically diagnosed patients was the high risk for AH (6.0) between spouses, which exceed the risk between siblings, suggesting the existence of strong environmental risk factors. AH and PBC were associated with multiple other AIDs. The results call attention to environmental factors in AID etiology which should also be in focus in taking anamnestic data from patients.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0240794</identifier><identifier>PMID: 33079961</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adult ; Age ; Aids ; Antibodies ; Autoimmune diseases ; Basic Medicine ; Biology and Life Sciences ; Cancer ; Cholangitis ; Cirrhosis ; Clinical Medicine ; Cytochrome ; Data collection ; Diagnosis ; Environmental factors ; Environmental risk ; Epidemiology ; Etiology ; Families & family life ; Family ; Family studies ; Female ; Generations ; Genetic aspects ; Health care ; Health risks ; Hepatitis ; Hepatitis, Autoimmune - complications ; Hospitals ; Humans ; Immunoglobulins ; Immunologi inom det medicinska området ; Immunology in the medical area ; Infectious Medicine ; Infektionsmedicin ; Klinisk medicin ; Liver ; Liver cirrhosis ; Liver Cirrhosis, Biliary - complications ; Liver diseases ; Male ; Males ; Medical and Health Sciences ; Medical diagnosis ; Medical research ; Medicin och hälsovetenskap ; Medicine ; Medicine and Health Sciences ; Medicinska och farmaceutiska grundvetenskaper ; Mortality ; Offspring ; People and places ; Population ; Primary biliary cirrhosis ; Primary care ; Public health ; Rare diseases ; Risk analysis ; Risk Factors ; Siblings ; Spouses ; Womens health</subject><ispartof>PloS one, 2020-10, Vol.15 (10), p.e0240794</ispartof><rights>COPYRIGHT 2020 Public Library of Science</rights><rights>2020 Thomsen 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>2020 Thomsen et al 2020 Thomsen et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c761t-28206cd08329913b3c44e9fb56ea505fd3dee2603d3a497e601369e525e8ae203</citedby><cites>FETCH-LOGICAL-c761t-28206cd08329913b3c44e9fb56ea505fd3dee2603d3a497e601369e525e8ae203</cites><orcidid>0000-0001-7228-5015 ; 0000-0001-5951-3116</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/PMC7575086/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7575086/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,552,727,780,784,864,885,2102,2928,23866,27924,27925,53791,53793,79600,79601</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33079961$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://lup.lub.lu.se/record/36f2a175-3524-432c-90dc-9c35f1a1b49c$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><contributor>Alpini, Gianfranco D.</contributor><creatorcontrib>Thomsen, Hauke</creatorcontrib><creatorcontrib>Li, Xinjun</creatorcontrib><creatorcontrib>Sundquist, Kristina</creatorcontrib><creatorcontrib>Sundquist, Jan</creatorcontrib><creatorcontrib>Försti, Asta</creatorcontrib><creatorcontrib>Hemminki, Kari</creatorcontrib><title>Familial associations between autoimmune hepatitis and primary biliary cholangitis and other autoimmune diseases</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Autoimmune hepatitis (AH) and primary biliary cirrhosis (PBC) are autoimmune diseases (AIDs) targeting cellular components of the liver. Being rare diseases, limited data are available about familial risks among these AIDs (concordant) or between them and other AIDs (discordant). We aimed to carry out an unbiased study on these AIDs based on medically diagnosed patients. We collected data on patients diagnosed in Swedish hospitals with AH, PBC and other AIDs and calculated familial standardized incidence ratios (SIRs) for concordant and discordant familial relative risks. The number of AH patients was 6,269, of whom 43.0% were male; patient numbers for PBC were 4,269, with 17.8% males. AH accounted for 0.8% and 0.6% of all hospitalized AIDs in Sweden. For AH only the familial risk between siblings was significant (3.83). For PBC the risks for offspring of parents (9.05) and siblings (10.88) were high, but only risk for females was significant. Spousal risks were very high, 5.91 and 6.07 for AH. Risk for AH was 2.21 in families of PBC, and it was 2.47 for PBC in families of AH patients. 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The results call attention to environmental factors in AID etiology which should also be in focus in taking anamnestic data from patients.</description><subject>Adult</subject><subject>Age</subject><subject>Aids</subject><subject>Antibodies</subject><subject>Autoimmune diseases</subject><subject>Basic Medicine</subject><subject>Biology and Life Sciences</subject><subject>Cancer</subject><subject>Cholangitis</subject><subject>Cirrhosis</subject><subject>Clinical Medicine</subject><subject>Cytochrome</subject><subject>Data collection</subject><subject>Diagnosis</subject><subject>Environmental factors</subject><subject>Environmental risk</subject><subject>Epidemiology</subject><subject>Etiology</subject><subject>Families & family life</subject><subject>Family</subject><subject>Family studies</subject><subject>Female</subject><subject>Generations</subject><subject>Genetic aspects</subject><subject>Health care</subject><subject>Health risks</subject><subject>Hepatitis</subject><subject>Hepatitis, Autoimmune - complications</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Immunoglobulins</subject><subject>Immunologi inom det medicinska området</subject><subject>Immunology in the medical area</subject><subject>Infectious Medicine</subject><subject>Infektionsmedicin</subject><subject>Klinisk medicin</subject><subject>Liver</subject><subject>Liver cirrhosis</subject><subject>Liver Cirrhosis, Biliary - complications</subject><subject>Liver diseases</subject><subject>Male</subject><subject>Males</subject><subject>Medical and Health Sciences</subject><subject>Medical diagnosis</subject><subject>Medical research</subject><subject>Medicin och hälsovetenskap</subject><subject>Medicine</subject><subject>Medicine and Health Sciences</subject><subject>Medicinska och farmaceutiska grundvetenskaper</subject><subject>Mortality</subject><subject>Offspring</subject><subject>People and places</subject><subject>Population</subject><subject>Primary biliary cirrhosis</subject><subject>Primary care</subject><subject>Public health</subject><subject>Rare diseases</subject><subject>Risk analysis</subject><subject>Risk Factors</subject><subject>Siblings</subject><subject>Spouses</subject><subject>Womens 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autoimmune hepatitis and primary biliary cholangitis and other autoimmune diseases</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2020-10-20</date><risdate>2020</risdate><volume>15</volume><issue>10</issue><spage>e0240794</spage><pages>e0240794-</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Autoimmune hepatitis (AH) and primary biliary cirrhosis (PBC) are autoimmune diseases (AIDs) targeting cellular components of the liver. Being rare diseases, limited data are available about familial risks among these AIDs (concordant) or between them and other AIDs (discordant). We aimed to carry out an unbiased study on these AIDs based on medically diagnosed patients. We collected data on patients diagnosed in Swedish hospitals with AH, PBC and other AIDs and calculated familial standardized incidence ratios (SIRs) for concordant and discordant familial relative risks. The number of AH patients was 6,269, of whom 43.0% were male; patient numbers for PBC were 4,269, with 17.8% males. AH accounted for 0.8% and 0.6% of all hospitalized AIDs in Sweden. For AH only the familial risk between siblings was significant (3.83). For PBC the risks for offspring of parents (9.05) and siblings (10.88) were high, but only risk for females was significant. Spousal risks were very high, 5.91 and 6.07 for AH. Risk for AH was 2.21 in families of PBC, and it was 2.47 for PBC in families of AH patients. Among other AIDs, 14 showed a significant association with AH, compared to 16 AIDs with PBC. The surprising finding in this nation-wide family study on medically diagnosed patients was the high risk for AH (6.0) between spouses, which exceed the risk between siblings, suggesting the existence of strong environmental risk factors. AH and PBC were associated with multiple other AIDs. The results call attention to environmental factors in AID etiology which should also be in focus in taking anamnestic data from patients.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>33079961</pmid><doi>10.1371/journal.pone.0240794</doi><tpages>e0240794</tpages><orcidid>https://orcid.org/0000-0001-7228-5015</orcidid><orcidid>https://orcid.org/0000-0001-5951-3116</orcidid><oa>free_for_read</oa></addata></record> |
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| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_2452446838 |
| source | MEDLINE; DOAJ Directory of Open Access Journals; SWEPUB Freely available online; Public Library of Science (PLoS); EZB-FREE-00999 freely available EZB journals; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Adult Age Aids Antibodies Autoimmune diseases Basic Medicine Biology and Life Sciences Cancer Cholangitis Cirrhosis Clinical Medicine Cytochrome Data collection Diagnosis Environmental factors Environmental risk Epidemiology Etiology Families & family life Family Family studies Female Generations Genetic aspects Health care Health risks Hepatitis Hepatitis, Autoimmune - complications Hospitals Humans Immunoglobulins Immunologi inom det medicinska området Immunology in the medical area Infectious Medicine Infektionsmedicin Klinisk medicin Liver Liver cirrhosis Liver Cirrhosis, Biliary - complications Liver diseases Male Males Medical and Health Sciences Medical diagnosis Medical research Medicin och hälsovetenskap Medicine Medicine and Health Sciences Medicinska och farmaceutiska grundvetenskaper Mortality Offspring People and places Population Primary biliary cirrhosis Primary care Public health Rare diseases Risk analysis Risk Factors Siblings Spouses Womens health |
| title | Familial associations between autoimmune hepatitis and primary biliary cholangitis and other autoimmune diseases |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-05T17%3A55%3A08IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Familial%20associations%20between%20autoimmune%20hepatitis%20and%20primary%20biliary%20cholangitis%20and%20other%20autoimmune%20diseases&rft.jtitle=PloS%20one&rft.au=Thomsen,%20Hauke&rft.date=2020-10-20&rft.volume=15&rft.issue=10&rft.spage=e0240794&rft.pages=e0240794-&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0240794&rft_dat=%3Cgale_plos_%3EA638966581%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2452446838&rft_id=info:pmid/33079961&rft_galeid=A638966581&rft_doaj_id=oai_doaj_org_article_b45ca1f95bfc463f99a3a3f638c3c286&rfr_iscdi=true |