The frequency of hemochromatosis‐associated alleles is increased in British patients with sporadic porphyria cutanea tarda
The cause of the hepatic siderosis and iron overload that is common in porphyria cutanea tarda (PCT) is uncertain. Heterozygosity for genetic hemochromatosis has been supported by some studies of the association between the HLA‐A3 antigen and porphyria cutanea tarda but not by others. The hemochroma...
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| Veröffentlicht in: | Hepatology (Baltimore, Md.) Md.), 1997-01, Vol.25 (1), p.159-161 |
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| container_title | Hepatology (Baltimore, Md.) |
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| creator | Roberts, A. G. Whatley, S. D. Nicklin, S. Worwood, M. Pointon, J. J. Stone, C. Elder, G. H. |
| description | The cause of the hepatic siderosis and iron overload that is common in porphyria cutanea tarda (PCT) is uncertain. Heterozygosity for genetic hemochromatosis has been supported by some studies of the association between the HLA‐A3 antigen and porphyria cutanea tarda but not by others. The hemochromatosis gene is now believed to be located telomeric to HLA‐A3 and close to the DNA microsatellite marker D6S1260. We have used this and other microsatellite markers, which together define an ancestral haplotype that is strongly linked to hemochromatosis, to reinvestigate the relationship between these disorders in 41 British patients with sporadic PCT. Fifteen patients carried the hemochromatosis‐associated alleles D6S265‐1 and D6S105‐8. Four of these were homozygous for the ancestral haplotype D6S265‐1: D6S105‐8: D6S1260‐4. We estimate that approximately 37% of British patients with sporadic PCT carry at least one hemochromatosis gene compared with 10% of the general population. |
| doi_str_mv | 10.1002/hep.510250129 |
| format | Article |
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G. ; Whatley, S. D. ; Nicklin, S. ; Worwood, M. ; Pointon, J. J. ; Stone, C. ; Elder, G. H.</creator><creatorcontrib>Roberts, A. G. ; Whatley, S. D. ; Nicklin, S. ; Worwood, M. ; Pointon, J. J. ; Stone, C. ; Elder, G. H.</creatorcontrib><description>The cause of the hepatic siderosis and iron overload that is common in porphyria cutanea tarda (PCT) is uncertain. Heterozygosity for genetic hemochromatosis has been supported by some studies of the association between the HLA‐A3 antigen and porphyria cutanea tarda but not by others. The hemochromatosis gene is now believed to be located telomeric to HLA‐A3 and close to the DNA microsatellite marker D6S1260. We have used this and other microsatellite markers, which together define an ancestral haplotype that is strongly linked to hemochromatosis, to reinvestigate the relationship between these disorders in 41 British patients with sporadic PCT. Fifteen patients carried the hemochromatosis‐associated alleles D6S265‐1 and D6S105‐8. Four of these were homozygous for the ancestral haplotype D6S265‐1: D6S105‐8: D6S1260‐4. We estimate that approximately 37% of British patients with sporadic PCT carry at least one hemochromatosis gene compared with 10% of the general population.</description><identifier>ISSN: 0270-9139</identifier><identifier>EISSN: 1527-3350</identifier><identifier>DOI: 10.1002/hep.510250129</identifier><identifier>PMID: 8985283</identifier><identifier>CODEN: HPTLD9</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult ; Aged ; Aged, 80 and over ; Alleles ; Biological and medical sciences ; Dermatology ; Female ; Ferritins - analysis ; Haplotypes ; Hemochromatosis - genetics ; HLA-A3 Antigen - genetics ; Humans ; Iron - blood ; Male ; Medical sciences ; Middle Aged ; Pigmentary diseases of the skin ; Porphyria Cutanea Tarda - genetics ; Transferrin - analysis</subject><ispartof>Hepatology (Baltimore, Md.), 1997-01, Vol.25 (1), p.159-161</ispartof><rights>Copyright © 1997 by the American Association for the Study of Liver Diseases</rights><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4049-5e8ab60ed0d73b206be82ba4520326e13b68ebcc1e0d4945ca2058f67414dd593</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fhep.510250129$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fhep.510250129$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,777,781,1412,4010,27904,27905,27906,45555,45556</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2545781$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8985283$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Roberts, A. G.</creatorcontrib><creatorcontrib>Whatley, S. D.</creatorcontrib><creatorcontrib>Nicklin, S.</creatorcontrib><creatorcontrib>Worwood, M.</creatorcontrib><creatorcontrib>Pointon, J. J.</creatorcontrib><creatorcontrib>Stone, C.</creatorcontrib><creatorcontrib>Elder, G. H.</creatorcontrib><title>The frequency of hemochromatosis‐associated alleles is increased in British patients with sporadic porphyria cutanea tarda</title><title>Hepatology (Baltimore, Md.)</title><addtitle>Hepatology</addtitle><description>The cause of the hepatic siderosis and iron overload that is common in porphyria cutanea tarda (PCT) is uncertain. Heterozygosity for genetic hemochromatosis has been supported by some studies of the association between the HLA‐A3 antigen and porphyria cutanea tarda but not by others. The hemochromatosis gene is now believed to be located telomeric to HLA‐A3 and close to the DNA microsatellite marker D6S1260. We have used this and other microsatellite markers, which together define an ancestral haplotype that is strongly linked to hemochromatosis, to reinvestigate the relationship between these disorders in 41 British patients with sporadic PCT. Fifteen patients carried the hemochromatosis‐associated alleles D6S265‐1 and D6S105‐8. Four of these were homozygous for the ancestral haplotype D6S265‐1: D6S105‐8: D6S1260‐4. We estimate that approximately 37% of British patients with sporadic PCT carry at least one hemochromatosis gene compared with 10% of the general population.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>Dermatology</subject><subject>Female</subject><subject>Ferritins - analysis</subject><subject>Haplotypes</subject><subject>Hemochromatosis - genetics</subject><subject>HLA-A3 Antigen - genetics</subject><subject>Humans</subject><subject>Iron - blood</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Pigmentary diseases of the skin</subject><subject>Porphyria Cutanea Tarda - genetics</subject><subject>Transferrin - analysis</subject><issn>0270-9139</issn><issn>1527-3350</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kM1q3TAQhUVpSW_SLrssaFG6czKSJVtetiE_hUC7SNdmLI-xiv-q8SVcyKKP0GfMk1ThXm52hYGBmY8zZ44QHxScKwB90dNybhVoC0pXr8RGWV1meW7htdiALiGrVF69FafMvwCgMtqdiBNXOatdvhGP9z3JLtLvLU1-J-dO9jTOvo_ziOvMgZ_-_EXm2QdcqZU4DDQQy5Bq8pGQ0zBM8msMa-BeLrgGmlaWD2HtJS9zxDZ4mfrS72JA6bcrToRyxdjiO_Gmw4Hp_aGfiZ_XV_eXt9nd95tvl1_uMm_AVJklh00B1EJb5o2GoiGnGzRWQ64LUnlTOGq8VwStqYz1qMG6riiNMm1rq_xMfN7rLnFOj_Jaj4E9DUOyMm-5Ll1ZgSpUArM96OPMHKmrlxhGjLtaQf2cdp3Sro9pJ_7jQXjbjNQe6UO8af_psEf2OHQRJx_4iGlrbOmez5Z77CEMtPv_zfr26seLgX-zJJsz</recordid><startdate>199701</startdate><enddate>199701</enddate><creator>Roberts, A. G.</creator><creator>Whatley, S. D.</creator><creator>Nicklin, S.</creator><creator>Worwood, M.</creator><creator>Pointon, J. J.</creator><creator>Stone, C.</creator><creator>Elder, G. H.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley</general><scope>IQODW</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>199701</creationdate><title>The frequency of hemochromatosis‐associated alleles is increased in British patients with sporadic porphyria cutanea tarda</title><author>Roberts, A. G. ; Whatley, S. D. ; Nicklin, S. ; Worwood, M. ; Pointon, J. J. ; Stone, C. ; Elder, G. 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G.</creatorcontrib><creatorcontrib>Whatley, S. D.</creatorcontrib><creatorcontrib>Nicklin, S.</creatorcontrib><creatorcontrib>Worwood, M.</creatorcontrib><creatorcontrib>Pointon, J. J.</creatorcontrib><creatorcontrib>Stone, C.</creatorcontrib><creatorcontrib>Elder, G. H.</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>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Hepatology (Baltimore, Md.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Roberts, A. G.</au><au>Whatley, S. D.</au><au>Nicklin, S.</au><au>Worwood, M.</au><au>Pointon, J. J.</au><au>Stone, C.</au><au>Elder, G. 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We have used this and other microsatellite markers, which together define an ancestral haplotype that is strongly linked to hemochromatosis, to reinvestigate the relationship between these disorders in 41 British patients with sporadic PCT. Fifteen patients carried the hemochromatosis‐associated alleles D6S265‐1 and D6S105‐8. Four of these were homozygous for the ancestral haplotype D6S265‐1: D6S105‐8: D6S1260‐4. We estimate that approximately 37% of British patients with sporadic PCT carry at least one hemochromatosis gene compared with 10% of the general population.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>8985283</pmid><doi>10.1002/hep.510250129</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Aged Aged, 80 and over Alleles Biological and medical sciences Dermatology Female Ferritins - analysis Haplotypes Hemochromatosis - genetics HLA-A3 Antigen - genetics Humans Iron - blood Male Medical sciences Middle Aged Pigmentary diseases of the skin Porphyria Cutanea Tarda - genetics Transferrin - analysis |
| title | The frequency of hemochromatosis‐associated alleles is increased in British patients with sporadic porphyria cutanea tarda |
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