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Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients
: Aim: It is not clear whether the mutations in hemochromatosis (HFE) gene and hepatitis C virus (HCV) infection act independently in the pathogenesis of porphyria cutanea tarda (PCT). The prevalence of both risk factors varies greatly in different parts of the world. PCT patients from Hungary were...
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| Published in: | Liver international 2004-02, Vol.24 (1), p.16-20 |
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| container_title | Liver international |
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| creator | Nagy, Zsuzsanna Kószó, Ferenc Pár, Alajos Emri, Gabriella Horkay, Irén Horányi, Margit Karádi, Oszkár Rumi Jr, György Morvay, Márta Varga, Viktória Dobozy, Attila Mózsik, Gyula |
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Aim: It is not clear whether the mutations in hemochromatosis (HFE) gene and hepatitis C virus (HCV) infection act independently in the pathogenesis of porphyria cutanea tarda (PCT). The prevalence of both risk factors varies greatly in different parts of the world. PCT patients from Hungary were evaluated to assess both factors.
Methods: The prevalence of C282Y and H63D mutations in the HFE gene was determined in 50 PCT patients and compared with the reported control frequencies. Furthermore, the presence of HCV infection was determined and related to the patients' HFE gene status.
Results: The C282Y mutation was found in 8/50 cases (three homozygotes and five heterozygotes), with an 11% allele frequency (vs. 3.8% control) (P |
| doi_str_mv | 10.1111/j.1478-3231.2004.00884.x |
| format | article |
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Aim: It is not clear whether the mutations in hemochromatosis (HFE) gene and hepatitis C virus (HCV) infection act independently in the pathogenesis of porphyria cutanea tarda (PCT). The prevalence of both risk factors varies greatly in different parts of the world. PCT patients from Hungary were evaluated to assess both factors.
Methods: The prevalence of C282Y and H63D mutations in the HFE gene was determined in 50 PCT patients and compared with the reported control frequencies. Furthermore, the presence of HCV infection was determined and related to the patients' HFE gene status.
Results: The C282Y mutation was found in 8/50 cases (three homozygotes and five heterozygotes), with an 11% allele frequency (vs. 3.8% control) (P<0.05). Seventeen patients were heterozygous, one was homozygous for the H63D mutation, allele frequency 19%, which did not differ significantly from the reported control prevalence of 12.3%. Twenty‐two patients (44%) were HCV‐RNA positive; six out of them were heterozygous for H63D mutation, one only for the C282Y mutation and one was compound heterozygous for both mutations.
Conclusion: HCV infection and HFE C282Y mutation may probably be independent predisposing factors for development of PCT in Hungarian patients.</description><identifier>ISSN: 1478-3223</identifier><identifier>EISSN: 1478-3231</identifier><identifier>DOI: 10.1111/j.1478-3231.2004.00884.x</identifier><identifier>PMID: 15101996</identifier><language>eng</language><publisher>Oxford, UK: Munksgaard International Publishers</publisher><subject>Adult ; Aged ; Aged, 80 and over ; Female ; Hemochromatosis - complications ; Hemochromatosis - genetics ; hemochromatosis gene ; Hemochromatosis Protein ; Hepatitis C - complications ; hepatitis C virus ; Histocompatibility Antigens Class I - genetics ; Humans ; Hungary ; Male ; Membrane Proteins - genetics ; Middle Aged ; Mutation ; porphyria cutanea tarda ; Porphyria Cutanea Tarda - complications ; Porphyria Cutanea Tarda - etiology ; Porphyria Cutanea Tarda - physiopathology ; Risk Factors</subject><ispartof>Liver international, 2004-02, Vol.24 (1), p.16-20</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4044-af8208af539bc3f9a79bb9b0ddcec816ac35aeb98030f1f4e59ff8d89c622c6e3</citedby><cites>FETCH-LOGICAL-c4044-af8208af539bc3f9a79bb9b0ddcec816ac35aeb98030f1f4e59ff8d89c622c6e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27922,27923</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15101996$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nagy, Zsuzsanna</creatorcontrib><creatorcontrib>Kószó, Ferenc</creatorcontrib><creatorcontrib>Pár, Alajos</creatorcontrib><creatorcontrib>Emri, Gabriella</creatorcontrib><creatorcontrib>Horkay, Irén</creatorcontrib><creatorcontrib>Horányi, Margit</creatorcontrib><creatorcontrib>Karádi, Oszkár</creatorcontrib><creatorcontrib>Rumi Jr, György</creatorcontrib><creatorcontrib>Morvay, Márta</creatorcontrib><creatorcontrib>Varga, Viktória</creatorcontrib><creatorcontrib>Dobozy, Attila</creatorcontrib><creatorcontrib>Mózsik, Gyula</creatorcontrib><title>Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients</title><title>Liver international</title><addtitle>Liver Int</addtitle><description>:
Aim: It is not clear whether the mutations in hemochromatosis (HFE) gene and hepatitis C virus (HCV) infection act independently in the pathogenesis of porphyria cutanea tarda (PCT). The prevalence of both risk factors varies greatly in different parts of the world. PCT patients from Hungary were evaluated to assess both factors.
Methods: The prevalence of C282Y and H63D mutations in the HFE gene was determined in 50 PCT patients and compared with the reported control frequencies. Furthermore, the presence of HCV infection was determined and related to the patients' HFE gene status.
Results: The C282Y mutation was found in 8/50 cases (three homozygotes and five heterozygotes), with an 11% allele frequency (vs. 3.8% control) (P<0.05). Seventeen patients were heterozygous, one was homozygous for the H63D mutation, allele frequency 19%, which did not differ significantly from the reported control prevalence of 12.3%. Twenty‐two patients (44%) were HCV‐RNA positive; six out of them were heterozygous for H63D mutation, one only for the C282Y mutation and one was compound heterozygous for both mutations.
Conclusion: HCV infection and HFE C282Y mutation may probably be independent predisposing factors for development of PCT in Hungarian patients.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Female</subject><subject>Hemochromatosis - complications</subject><subject>Hemochromatosis - genetics</subject><subject>hemochromatosis gene</subject><subject>Hemochromatosis Protein</subject><subject>Hepatitis C - complications</subject><subject>hepatitis C virus</subject><subject>Histocompatibility Antigens Class I - genetics</subject><subject>Humans</subject><subject>Hungary</subject><subject>Male</subject><subject>Membrane Proteins - genetics</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>porphyria cutanea tarda</subject><subject>Porphyria Cutanea Tarda - complications</subject><subject>Porphyria Cutanea Tarda - etiology</subject><subject>Porphyria Cutanea Tarda - physiopathology</subject><subject>Risk Factors</subject><issn>1478-3223</issn><issn>1478-3231</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><recordid>eNqNUcFu1DAUtBAVLYVfQD4hOCTYsZPYEhdYuk2lVbkUOFqOY3e93cSp7cDuD_DdOOxqe60vHuvNzLNmAIAY5TidT5sc05plpCA4LxCiOUKM0Xz3AlycBi9PuCDn4HUIG4Qw5yV-Bc5xiWdcXYC_je6dWnvXy-iCDfBDs7z6CO_1oGE_RRmtGwKUQwfXekyvmCgL-Nv6KUA7GK1mApQBehseoJEqOh-gcR6Ozo_rvbcSquQzaAmj9J1MKthMw71MkwHOlnqI4Q04M3Ib9NvjfQl-LK_uFk22-n59s_iyyhRFlGbSsAIxaUrCW0UMlzVvW96irlNaMVxJRUqpW84QQQYbqktuDOsYV1VRqEqTS_D-4Dt69zjpEEVvg9Lbbfqgm4KoMaNVSXEisgNReReC10aM3vbS7wVGYu5AbMQcr5ijFnMH4n8HYpek7447prbX3ZPwGHoifD4Q_tit3j_bWKxufiaQ5NlBbkPUu5Nc-gdR1aQuxa_ba_HtDqNmSb6KmvwD-e-nFQ</recordid><startdate>200402</startdate><enddate>200402</enddate><creator>Nagy, Zsuzsanna</creator><creator>Kószó, Ferenc</creator><creator>Pár, Alajos</creator><creator>Emri, Gabriella</creator><creator>Horkay, Irén</creator><creator>Horányi, Margit</creator><creator>Karádi, Oszkár</creator><creator>Rumi Jr, György</creator><creator>Morvay, Márta</creator><creator>Varga, Viktória</creator><creator>Dobozy, Attila</creator><creator>Mózsik, Gyula</creator><general>Munksgaard International Publishers</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200402</creationdate><title>Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients</title><author>Nagy, Zsuzsanna ; Kószó, Ferenc ; Pár, Alajos ; Emri, Gabriella ; Horkay, Irén ; Horányi, Margit ; Karádi, Oszkár ; Rumi Jr, György ; Morvay, Márta ; Varga, Viktória ; Dobozy, Attila ; Mózsik, Gyula</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4044-af8208af539bc3f9a79bb9b0ddcec816ac35aeb98030f1f4e59ff8d89c622c6e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Female</topic><topic>Hemochromatosis - complications</topic><topic>Hemochromatosis - genetics</topic><topic>hemochromatosis gene</topic><topic>Hemochromatosis Protein</topic><topic>Hepatitis C - complications</topic><topic>hepatitis C virus</topic><topic>Histocompatibility Antigens Class I - genetics</topic><topic>Humans</topic><topic>Hungary</topic><topic>Male</topic><topic>Membrane Proteins - genetics</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>porphyria cutanea tarda</topic><topic>Porphyria Cutanea Tarda - complications</topic><topic>Porphyria Cutanea Tarda - etiology</topic><topic>Porphyria Cutanea Tarda - physiopathology</topic><topic>Risk Factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nagy, Zsuzsanna</creatorcontrib><creatorcontrib>Kószó, Ferenc</creatorcontrib><creatorcontrib>Pár, Alajos</creatorcontrib><creatorcontrib>Emri, Gabriella</creatorcontrib><creatorcontrib>Horkay, Irén</creatorcontrib><creatorcontrib>Horányi, Margit</creatorcontrib><creatorcontrib>Karádi, Oszkár</creatorcontrib><creatorcontrib>Rumi Jr, György</creatorcontrib><creatorcontrib>Morvay, Márta</creatorcontrib><creatorcontrib>Varga, Viktória</creatorcontrib><creatorcontrib>Dobozy, Attila</creatorcontrib><creatorcontrib>Mózsik, Gyula</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Liver international</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nagy, Zsuzsanna</au><au>Kószó, Ferenc</au><au>Pár, Alajos</au><au>Emri, Gabriella</au><au>Horkay, Irén</au><au>Horányi, Margit</au><au>Karádi, Oszkár</au><au>Rumi Jr, György</au><au>Morvay, Márta</au><au>Varga, Viktória</au><au>Dobozy, Attila</au><au>Mózsik, Gyula</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients</atitle><jtitle>Liver international</jtitle><addtitle>Liver Int</addtitle><date>2004-02</date><risdate>2004</risdate><volume>24</volume><issue>1</issue><spage>16</spage><epage>20</epage><pages>16-20</pages><issn>1478-3223</issn><eissn>1478-3231</eissn><abstract>:
Aim: It is not clear whether the mutations in hemochromatosis (HFE) gene and hepatitis C virus (HCV) infection act independently in the pathogenesis of porphyria cutanea tarda (PCT). The prevalence of both risk factors varies greatly in different parts of the world. PCT patients from Hungary were evaluated to assess both factors.
Methods: The prevalence of C282Y and H63D mutations in the HFE gene was determined in 50 PCT patients and compared with the reported control frequencies. Furthermore, the presence of HCV infection was determined and related to the patients' HFE gene status.
Results: The C282Y mutation was found in 8/50 cases (three homozygotes and five heterozygotes), with an 11% allele frequency (vs. 3.8% control) (P<0.05). Seventeen patients were heterozygous, one was homozygous for the H63D mutation, allele frequency 19%, which did not differ significantly from the reported control prevalence of 12.3%. Twenty‐two patients (44%) were HCV‐RNA positive; six out of them were heterozygous for H63D mutation, one only for the C282Y mutation and one was compound heterozygous for both mutations.
Conclusion: HCV infection and HFE C282Y mutation may probably be independent predisposing factors for development of PCT in Hungarian patients.</abstract><cop>Oxford, UK</cop><pub>Munksgaard International Publishers</pub><pmid>15101996</pmid><doi>10.1111/j.1478-3231.2004.00884.x</doi><tpages>5</tpages></addata></record> |
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| ispartof | Liver international, 2004-02, Vol.24 (1), p.16-20 |
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| subjects | Adult Aged Aged, 80 and over Female Hemochromatosis - complications Hemochromatosis - genetics hemochromatosis gene Hemochromatosis Protein Hepatitis C - complications hepatitis C virus Histocompatibility Antigens Class I - genetics Humans Hungary Male Membrane Proteins - genetics Middle Aged Mutation porphyria cutanea tarda Porphyria Cutanea Tarda - complications Porphyria Cutanea Tarda - etiology Porphyria Cutanea Tarda - physiopathology Risk Factors |
| title | Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients |
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