Porphyria Cutanea Tarda, Hepatitis C, Uroporphyrinogen Decarboxylase and Mutations of HFE Gene : A Case-Control Study
Hemochromatosis gene (HFE) mutations and the hepatitis C virus (HCV) are known risk factors for porphyria cutanea tarda (PCT), but interactions with erythrocytic uroporphyrinogen decarboxylase (UROD) have seldom been addressed. In order to examine the links between these factors, we conducted a mult...
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| Veröffentlicht in: | Dermatology (Basel) 2009-01, Vol.218 (1), p.15-21 |
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| creator | CRIBIER, Bernard CHIAVERINI, Christine DALI-YOUCEF, Nassim SCHMITT, Michèle GRIMA, Michèle HIRTH, Christine LACOUR, Jean-Philippe CHOSIDOW, Olivier |
| description | Hemochromatosis gene (HFE) mutations and the hepatitis C virus (HCV) are known risk factors for porphyria cutanea tarda (PCT), but interactions with erythrocytic uroporphyrinogen decarboxylase (UROD) have seldom been addressed.
In order to examine the links between these factors, we conducted a multicentre prospective case-control study.
PCT patients with (n = 32) or without HCV (n = 28) were matched to HCV+ (n = 32) and HCV- controls (n = 28). HFE mutations (C282Y and H63D) were analyzed by PCR.
PCT+/HCV+ patients were younger than PCT+/HCV- patients (46.9 vs. 58.2 years, p < 0.001). UROD values were not significantly different in HCV+ and HCV- patients. Both C282Y and H63D were more frequent in PCT+ patients than in controls, but there was no difference in HFE genotype according to HCV seropositivity. Mean UROD was lower in case of HFE mutations in both PCT patients and controls.
In French patients, HCV infection is probably the major causal factor of PCT. It is not linked with HFE mutations, although they are significantly associated with PCT. A low erythrocytic UROD might be a predisposing factor. The UROD value was lower in patients with HFE mutations, suggesting a possible interaction between HFE genotype and UROD levels. |
| doi_str_mv | 10.1159/000173696 |
| format | Article |
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In order to examine the links between these factors, we conducted a multicentre prospective case-control study.
PCT patients with (n = 32) or without HCV (n = 28) were matched to HCV+ (n = 32) and HCV- controls (n = 28). HFE mutations (C282Y and H63D) were analyzed by PCR.
PCT+/HCV+ patients were younger than PCT+/HCV- patients (46.9 vs. 58.2 years, p < 0.001). UROD values were not significantly different in HCV+ and HCV- patients. Both C282Y and H63D were more frequent in PCT+ patients than in controls, but there was no difference in HFE genotype according to HCV seropositivity. Mean UROD was lower in case of HFE mutations in both PCT patients and controls.
In French patients, HCV infection is probably the major causal factor of PCT. It is not linked with HFE mutations, although they are significantly associated with PCT. A low erythrocytic UROD might be a predisposing factor. The UROD value was lower in patients with HFE mutations, suggesting a possible interaction between HFE genotype and UROD levels.</description><identifier>ISSN: 1018-8665</identifier><identifier>EISSN: 1421-9832</identifier><identifier>DOI: 10.1159/000173696</identifier><identifier>PMID: 19001803</identifier><language>eng</language><publisher>Basel: Karger</publisher><subject>Adult ; Aged ; Biological and medical sciences ; Biomarkers - blood ; Case-Control Studies ; Dermatology ; Errors of metabolism ; Female ; France ; Genotype ; Hemochromatosis Protein ; Hepatitis C - complications ; Hepatitis C - enzymology ; Hepatitis C - genetics ; Histocompatibility Antigens Class I - blood ; Histocompatibility Antigens Class I - genetics ; Humans ; Male ; Medical sciences ; Membrane Proteins - blood ; Membrane Proteins - genetics ; Metabolic diseases ; Middle Aged ; Mutation ; Other metabolic disorders ; Pigments (porphyrias, hyperbilirubinemias...) ; Porphyria Cutanea Tarda - complications ; Porphyria Cutanea Tarda - enzymology ; Porphyria Cutanea Tarda - genetics ; Prospective Studies ; Proteins and glycoproteins ; Risk Factors ; Skin involvement in other diseases. Miscellaneous. General aspects ; Uroporphyrinogen Decarboxylase - blood</subject><ispartof>Dermatology (Basel), 2009-01, Vol.218 (1), p.15-21</ispartof><rights>2009 INIST-CNRS</rights><rights>Copyright 2008 S. Karger AG, Basel.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20998302$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19001803$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>CRIBIER, Bernard</creatorcontrib><creatorcontrib>CHIAVERINI, Christine</creatorcontrib><creatorcontrib>DALI-YOUCEF, Nassim</creatorcontrib><creatorcontrib>SCHMITT, Michèle</creatorcontrib><creatorcontrib>GRIMA, Michèle</creatorcontrib><creatorcontrib>HIRTH, Christine</creatorcontrib><creatorcontrib>LACOUR, Jean-Philippe</creatorcontrib><creatorcontrib>CHOSIDOW, Olivier</creatorcontrib><title>Porphyria Cutanea Tarda, Hepatitis C, Uroporphyrinogen Decarboxylase and Mutations of HFE Gene : A Case-Control Study</title><title>Dermatology (Basel)</title><addtitle>Dermatology</addtitle><description>Hemochromatosis gene (HFE) mutations and the hepatitis C virus (HCV) are known risk factors for porphyria cutanea tarda (PCT), but interactions with erythrocytic uroporphyrinogen decarboxylase (UROD) have seldom been addressed.
In order to examine the links between these factors, we conducted a multicentre prospective case-control study.
PCT patients with (n = 32) or without HCV (n = 28) were matched to HCV+ (n = 32) and HCV- controls (n = 28). HFE mutations (C282Y and H63D) were analyzed by PCR.
PCT+/HCV+ patients were younger than PCT+/HCV- patients (46.9 vs. 58.2 years, p < 0.001). UROD values were not significantly different in HCV+ and HCV- patients. Both C282Y and H63D were more frequent in PCT+ patients than in controls, but there was no difference in HFE genotype according to HCV seropositivity. Mean UROD was lower in case of HFE mutations in both PCT patients and controls.
In French patients, HCV infection is probably the major causal factor of PCT. It is not linked with HFE mutations, although they are significantly associated with PCT. A low erythrocytic UROD might be a predisposing factor. The UROD value was lower in patients with HFE mutations, suggesting a possible interaction between HFE genotype and UROD levels.</description><subject>Adult</subject><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>Biomarkers - blood</subject><subject>Case-Control Studies</subject><subject>Dermatology</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>France</subject><subject>Genotype</subject><subject>Hemochromatosis Protein</subject><subject>Hepatitis C - complications</subject><subject>Hepatitis C - enzymology</subject><subject>Hepatitis C - genetics</subject><subject>Histocompatibility Antigens Class I - blood</subject><subject>Histocompatibility Antigens Class I - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Membrane Proteins - blood</subject><subject>Membrane Proteins - genetics</subject><subject>Metabolic diseases</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Other metabolic disorders</subject><subject>Pigments (porphyrias, hyperbilirubinemias...)</subject><subject>Porphyria Cutanea Tarda - complications</subject><subject>Porphyria Cutanea Tarda - enzymology</subject><subject>Porphyria Cutanea Tarda - genetics</subject><subject>Prospective Studies</subject><subject>Proteins and glycoproteins</subject><subject>Risk Factors</subject><subject>Skin involvement in other diseases. Miscellaneous. General aspects</subject><subject>Uroporphyrinogen Decarboxylase - blood</subject><issn>1018-8665</issn><issn>1421-9832</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo90D1PwzAQBmALgWgpDPwB5AWmBvyRODFbFVqKVAQS7RzZzgWC0jjYiUT-PZYoTHfD8550L0KXlNxSmsg7QghNuZDiCE1pzGgkM86Ow05oFmVCJBN05v1nYCxL5SmaUBkSGeFTNLxa132MrlY4H3rVgsJb5Uo1x2voVF_3tcf5HO-c7Q6wte_Q4gcwymn7PTbKA1ZtiZ9DvK9t67Gt8Hq1xI_QAr7HC5wHEuW27Z1t8Fs_lOM5OqlU4-HiMGdot1pu83W0eXl8yhebqGNc9pHkGdcMeEkrXiWyrErGjY4hpZokRlBdaZCCZIwZaoTmsYqBUqpjaiCNCfAZuvm92zn7NYDvi33tDTRNeNQOvhAijVMp0wCvDnDQeyiLztV75cbir6gArg9AeaOayqnW1P7fMSJD54TxHyAuddo</recordid><startdate>20090101</startdate><enddate>20090101</enddate><creator>CRIBIER, Bernard</creator><creator>CHIAVERINI, Christine</creator><creator>DALI-YOUCEF, Nassim</creator><creator>SCHMITT, Michèle</creator><creator>GRIMA, Michèle</creator><creator>HIRTH, Christine</creator><creator>LACOUR, Jean-Philippe</creator><creator>CHOSIDOW, Olivier</creator><general>Karger</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>20090101</creationdate><title>Porphyria Cutanea Tarda, Hepatitis C, Uroporphyrinogen Decarboxylase and Mutations of HFE Gene : A Case-Control Study</title><author>CRIBIER, Bernard ; CHIAVERINI, Christine ; DALI-YOUCEF, Nassim ; SCHMITT, Michèle ; GRIMA, Michèle ; HIRTH, Christine ; LACOUR, Jean-Philippe ; CHOSIDOW, Olivier</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p239t-9383b2e3d1f3f59dfd23cb4e71b05c61bfbe960822c1c6b34a4e111b41ce740e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Biomarkers - blood</topic><topic>Case-Control Studies</topic><topic>Dermatology</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>France</topic><topic>Genotype</topic><topic>Hemochromatosis Protein</topic><topic>Hepatitis C - complications</topic><topic>Hepatitis C - enzymology</topic><topic>Hepatitis C - genetics</topic><topic>Histocompatibility Antigens Class I - blood</topic><topic>Histocompatibility Antigens Class I - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Membrane Proteins - blood</topic><topic>Membrane Proteins - genetics</topic><topic>Metabolic diseases</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Other metabolic disorders</topic><topic>Pigments (porphyrias, hyperbilirubinemias...)</topic><topic>Porphyria Cutanea Tarda - complications</topic><topic>Porphyria Cutanea Tarda - enzymology</topic><topic>Porphyria Cutanea Tarda - genetics</topic><topic>Prospective Studies</topic><topic>Proteins and glycoproteins</topic><topic>Risk Factors</topic><topic>Skin involvement in other diseases. Miscellaneous. General aspects</topic><topic>Uroporphyrinogen Decarboxylase - blood</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>CRIBIER, Bernard</creatorcontrib><creatorcontrib>CHIAVERINI, Christine</creatorcontrib><creatorcontrib>DALI-YOUCEF, Nassim</creatorcontrib><creatorcontrib>SCHMITT, Michèle</creatorcontrib><creatorcontrib>GRIMA, Michèle</creatorcontrib><creatorcontrib>HIRTH, Christine</creatorcontrib><creatorcontrib>LACOUR, Jean-Philippe</creatorcontrib><creatorcontrib>CHOSIDOW, Olivier</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Dermatology (Basel)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>CRIBIER, Bernard</au><au>CHIAVERINI, Christine</au><au>DALI-YOUCEF, Nassim</au><au>SCHMITT, Michèle</au><au>GRIMA, Michèle</au><au>HIRTH, Christine</au><au>LACOUR, Jean-Philippe</au><au>CHOSIDOW, Olivier</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Porphyria Cutanea Tarda, Hepatitis C, Uroporphyrinogen Decarboxylase and Mutations of HFE Gene : A Case-Control Study</atitle><jtitle>Dermatology (Basel)</jtitle><addtitle>Dermatology</addtitle><date>2009-01-01</date><risdate>2009</risdate><volume>218</volume><issue>1</issue><spage>15</spage><epage>21</epage><pages>15-21</pages><issn>1018-8665</issn><eissn>1421-9832</eissn><abstract>Hemochromatosis gene (HFE) mutations and the hepatitis C virus (HCV) are known risk factors for porphyria cutanea tarda (PCT), but interactions with erythrocytic uroporphyrinogen decarboxylase (UROD) have seldom been addressed.
In order to examine the links between these factors, we conducted a multicentre prospective case-control study.
PCT patients with (n = 32) or without HCV (n = 28) were matched to HCV+ (n = 32) and HCV- controls (n = 28). HFE mutations (C282Y and H63D) were analyzed by PCR.
PCT+/HCV+ patients were younger than PCT+/HCV- patients (46.9 vs. 58.2 years, p < 0.001). UROD values were not significantly different in HCV+ and HCV- patients. Both C282Y and H63D were more frequent in PCT+ patients than in controls, but there was no difference in HFE genotype according to HCV seropositivity. Mean UROD was lower in case of HFE mutations in both PCT patients and controls.
In French patients, HCV infection is probably the major causal factor of PCT. It is not linked with HFE mutations, although they are significantly associated with PCT. A low erythrocytic UROD might be a predisposing factor. The UROD value was lower in patients with HFE mutations, suggesting a possible interaction between HFE genotype and UROD levels.</abstract><cop>Basel</cop><pub>Karger</pub><pmid>19001803</pmid><doi>10.1159/000173696</doi><tpages>7</tpages></addata></record> |
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| ispartof | Dermatology (Basel), 2009-01, Vol.218 (1), p.15-21 |
| issn | 1018-8665 1421-9832 |
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| subjects | Adult Aged Biological and medical sciences Biomarkers - blood Case-Control Studies Dermatology Errors of metabolism Female France Genotype Hemochromatosis Protein Hepatitis C - complications Hepatitis C - enzymology Hepatitis C - genetics Histocompatibility Antigens Class I - blood Histocompatibility Antigens Class I - genetics Humans Male Medical sciences Membrane Proteins - blood Membrane Proteins - genetics Metabolic diseases Middle Aged Mutation Other metabolic disorders Pigments (porphyrias, hyperbilirubinemias...) Porphyria Cutanea Tarda - complications Porphyria Cutanea Tarda - enzymology Porphyria Cutanea Tarda - genetics Prospective Studies Proteins and glycoproteins Risk Factors Skin involvement in other diseases. Miscellaneous. General aspects Uroporphyrinogen Decarboxylase - blood |
| title | Porphyria Cutanea Tarda, Hepatitis C, Uroporphyrinogen Decarboxylase and Mutations of HFE Gene : A Case-Control Study |
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