HLA-DRB11101: A Significant Risk Factor for Sarcoidosis in Blacks and Whites
Sarcoidosis is a granulomatous disorder of unknown etiology, associated with an accumulation of CD4+ T cells and a TH1 immune response. Since previous studies of HLA associations with sarcoidosis were limited by serologic or low-resolution molecular identification, we performed high-resolution typin...
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| Veröffentlicht in: | American journal of human genetics 2003-10, Vol.73 (4), p.720-735 |
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| creator | Rossman, Milton D. Thompson, Bruce Frederick, Margaret Maliarik, Mary Iannuzzi, Michael C. Rybicki, Benjamin A. Pandey, Janardan P. Newman, Lee S. Magira, Eleni Beznik-Cizman, Bojana Monos, Dimitri |
| description | Sarcoidosis is a granulomatous disorder of unknown etiology, associated with an accumulation of CD4+ T cells and a TH1 immune response. Since previous studies of
HLA associations with sarcoidosis were limited by serologic or low-resolution molecular identification, we performed high-resolution typing for the
HLA-DPB1, HLA-DQB1, HLA-DRB1, and
HLA-DRB3 loci and the presence of the
DRB4 or
DRB5 locus, to define
HLA class II associations with sarcoidosis. A Case Control Etiologic Study of Sarcoidosis (ACCESS) enrolled biopsy-confirmed cases (736 total) from 10 centers in the United States. Seven hundred six (706) controls were case matched for age, race, sex, and geographic area. We studied the first 474 ACCESS patients and case-matched controls. The
HLA-DRB1 alleles were differentially distributed between cases and controls (
P |
| doi_str_mv | 10.1086/378097 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1180597</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0002929707636234</els_id><sourcerecordid>75712058</sourcerecordid><originalsourceid>FETCH-LOGICAL-c526t-31cc2a2226dadcd5a11d509aa6f408646e6d28b42777bc48b4641ec8078439ea3</originalsourceid><addsrcrecordid>eNqFkVtLxDAQhYMout5-guTJt-pM2iStD8J6FxaEVfExZJNUo91Gk67gv7fLLt5efBhmYD4Oc-YQsotwgFCKw1yWUMkVMkCey0wI4KtkAAAsq1glN8hmSs8AiCXk62QDCw6lBDEgo6vRMDsbnyAi4BEd0lv_2PraG912dOzTC73QpguR1n3d6miCtyH5RH1LTxptXhLVraUPT75zaZus1bpJbmfZt8j9xfnd6VU2urm8Ph2OMsOZ6LIcjWGaMSastsZyjWg5VFqLuui9FMIJy8pJwaSUE1P0kyjQmRJkWeSV0_kWOV7ovs4mU2eNa7uoG_Ua_VTHDxW0V783rX9Sj-Fdzf3zSvYC-0uBGN5mLnVq6pNxTaNbF2ZJSS6RAS__BbHiHPsPf4MmhpSiq7-uQVDzhNQioR7c-3n7N7aMpAdgAbj-g-_eRZWMd61x1kdnOmWD_6v5CeAMmLE</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>19551929</pqid></control><display><type>article</type><title>HLA-DRB11101: A Significant Risk Factor for Sarcoidosis in Blacks and Whites</title><source>MEDLINE</source><source>Cell Press Free Archives</source><source>Elsevier ScienceDirect Journals</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><creator>Rossman, Milton D. ; Thompson, Bruce ; Frederick, Margaret ; Maliarik, Mary ; Iannuzzi, Michael C. ; Rybicki, Benjamin A. ; Pandey, Janardan P. ; Newman, Lee S. ; Magira, Eleni ; Beznik-Cizman, Bojana ; Monos, Dimitri</creator><creatorcontrib>Rossman, Milton D. ; Thompson, Bruce ; Frederick, Margaret ; Maliarik, Mary ; Iannuzzi, Michael C. ; Rybicki, Benjamin A. ; Pandey, Janardan P. ; Newman, Lee S. ; Magira, Eleni ; Beznik-Cizman, Bojana ; Monos, Dimitri ; ACCESS Group</creatorcontrib><description>Sarcoidosis is a granulomatous disorder of unknown etiology, associated with an accumulation of CD4+ T cells and a TH1 immune response. Since previous studies of
HLA associations with sarcoidosis were limited by serologic or low-resolution molecular identification, we performed high-resolution typing for the
HLA-DPB1, HLA-DQB1, HLA-DRB1, and
HLA-DRB3 loci and the presence of the
DRB4 or
DRB5 locus, to define
HLA class II associations with sarcoidosis. A Case Control Etiologic Study of Sarcoidosis (ACCESS) enrolled biopsy-confirmed cases (736 total) from 10 centers in the United States. Seven hundred six (706) controls were case matched for age, race, sex, and geographic area. We studied the first 474 ACCESS patients and case-matched controls. The
HLA-DRB1 alleles were differentially distributed between cases and controls (
P<.0001). The
HLA-DRB1*1101 allele was associated (
P<.01) with sarcoidosis in blacks and whites and had a population attributable risk of 16% in blacks and 9% in whites.
HLA-DRB1-F
47 was the amino acid residue most associated with sarcoidosis and independently associated with sarcoidosis in whites. The
HLA-DPB1 locus also contributed to susceptibility for sarcoidosis and, in contrast to chronic beryllium disease, a non–E
69-containing allele,
HLA-DPB1*0101, conveyed most of the risk. Although significant differences were observed in the distribution of
HLA class II alleles between blacks and whites, only
HLA-DRB1*1501 was differentially associated with sarcoidosis (
P<.003). In addition to being susceptibility markers,
HLA class II alleles may be markers for different phenotypes of sarcoidosis (
DRB1*0401 for eye in blacks and whites, DRB3 for bone marrow in blacks, and
DPB1*0101 for hypercalcemia in whites). These studies confirm a genetic predisposition for sarcoidosis and present evidence for the allelic variation at the
HLA-DRB1 locus as a major contributor.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1086/378097</identifier><identifier>PMID: 14508706</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Black People - genetics ; Gene Frequency ; Geography ; Histocompatibility Testing ; HLA-DR Antigens - blood ; HLA-DR Antigens - genetics ; HLA-DRB1 Chains ; Humans ; Prospective Studies ; Risk Factors ; Sarcoidosis - blood ; Sarcoidosis - genetics ; Sarcoidosis - immunology ; United States ; White People - genetics</subject><ispartof>American journal of human genetics, 2003-10, Vol.73 (4), p.720-735</ispartof><rights>2003 The American Society of Human Genetics</rights><rights>2003 by The American Society of Human Genetics. All rights reserved. 2003</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c526t-31cc2a2226dadcd5a11d509aa6f408646e6d28b42777bc48b4641ec8078439ea3</citedby><cites>FETCH-LOGICAL-c526t-31cc2a2226dadcd5a11d509aa6f408646e6d28b42777bc48b4641ec8078439ea3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180597/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0002929707636234$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,3537,27901,27902,53766,53768,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14508706$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rossman, Milton D.</creatorcontrib><creatorcontrib>Thompson, Bruce</creatorcontrib><creatorcontrib>Frederick, Margaret</creatorcontrib><creatorcontrib>Maliarik, Mary</creatorcontrib><creatorcontrib>Iannuzzi, Michael C.</creatorcontrib><creatorcontrib>Rybicki, Benjamin A.</creatorcontrib><creatorcontrib>Pandey, Janardan P.</creatorcontrib><creatorcontrib>Newman, Lee S.</creatorcontrib><creatorcontrib>Magira, Eleni</creatorcontrib><creatorcontrib>Beznik-Cizman, Bojana</creatorcontrib><creatorcontrib>Monos, Dimitri</creatorcontrib><creatorcontrib>ACCESS Group</creatorcontrib><title>HLA-DRB11101: A Significant Risk Factor for Sarcoidosis in Blacks and Whites</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Sarcoidosis is a granulomatous disorder of unknown etiology, associated with an accumulation of CD4+ T cells and a TH1 immune response. Since previous studies of
HLA associations with sarcoidosis were limited by serologic or low-resolution molecular identification, we performed high-resolution typing for the
HLA-DPB1, HLA-DQB1, HLA-DRB1, and
HLA-DRB3 loci and the presence of the
DRB4 or
DRB5 locus, to define
HLA class II associations with sarcoidosis. A Case Control Etiologic Study of Sarcoidosis (ACCESS) enrolled biopsy-confirmed cases (736 total) from 10 centers in the United States. Seven hundred six (706) controls were case matched for age, race, sex, and geographic area. We studied the first 474 ACCESS patients and case-matched controls. The
HLA-DRB1 alleles were differentially distributed between cases and controls (
P<.0001). The
HLA-DRB1*1101 allele was associated (
P<.01) with sarcoidosis in blacks and whites and had a population attributable risk of 16% in blacks and 9% in whites.
HLA-DRB1-F
47 was the amino acid residue most associated with sarcoidosis and independently associated with sarcoidosis in whites. The
HLA-DPB1 locus also contributed to susceptibility for sarcoidosis and, in contrast to chronic beryllium disease, a non–E
69-containing allele,
HLA-DPB1*0101, conveyed most of the risk. Although significant differences were observed in the distribution of
HLA class II alleles between blacks and whites, only
HLA-DRB1*1501 was differentially associated with sarcoidosis (
P<.003). In addition to being susceptibility markers,
HLA class II alleles may be markers for different phenotypes of sarcoidosis (
DRB1*0401 for eye in blacks and whites, DRB3 for bone marrow in blacks, and
DPB1*0101 for hypercalcemia in whites). These studies confirm a genetic predisposition for sarcoidosis and present evidence for the allelic variation at the
HLA-DRB1 locus as a major contributor.</description><subject>Black People - genetics</subject><subject>Gene Frequency</subject><subject>Geography</subject><subject>Histocompatibility Testing</subject><subject>HLA-DR Antigens - blood</subject><subject>HLA-DR Antigens - genetics</subject><subject>HLA-DRB1 Chains</subject><subject>Humans</subject><subject>Prospective Studies</subject><subject>Risk Factors</subject><subject>Sarcoidosis - blood</subject><subject>Sarcoidosis - genetics</subject><subject>Sarcoidosis - immunology</subject><subject>United States</subject><subject>White People - genetics</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkVtLxDAQhYMout5-guTJt-pM2iStD8J6FxaEVfExZJNUo91Gk67gv7fLLt5efBhmYD4Oc-YQsotwgFCKw1yWUMkVMkCey0wI4KtkAAAsq1glN8hmSs8AiCXk62QDCw6lBDEgo6vRMDsbnyAi4BEd0lv_2PraG912dOzTC73QpguR1n3d6miCtyH5RH1LTxptXhLVraUPT75zaZus1bpJbmfZt8j9xfnd6VU2urm8Ph2OMsOZ6LIcjWGaMSastsZyjWg5VFqLuui9FMIJy8pJwaSUE1P0kyjQmRJkWeSV0_kWOV7ovs4mU2eNa7uoG_Ua_VTHDxW0V783rX9Sj-Fdzf3zSvYC-0uBGN5mLnVq6pNxTaNbF2ZJSS6RAS__BbHiHPsPf4MmhpSiq7-uQVDzhNQioR7c-3n7N7aMpAdgAbj-g-_eRZWMd61x1kdnOmWD_6v5CeAMmLE</recordid><startdate>20031001</startdate><enddate>20031001</enddate><creator>Rossman, Milton D.</creator><creator>Thompson, Bruce</creator><creator>Frederick, Margaret</creator><creator>Maliarik, Mary</creator><creator>Iannuzzi, Michael C.</creator><creator>Rybicki, Benjamin A.</creator><creator>Pandey, Janardan P.</creator><creator>Newman, Lee S.</creator><creator>Magira, Eleni</creator><creator>Beznik-Cizman, Bojana</creator><creator>Monos, Dimitri</creator><general>Elsevier Inc</general><general>The American Society of Human Genetics</general><scope>6I.</scope><scope>AAFTH</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>7T5</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20031001</creationdate><title>HLA-DRB11101: A Significant Risk Factor for Sarcoidosis in Blacks and Whites</title><author>Rossman, Milton D. ; Thompson, Bruce ; Frederick, Margaret ; Maliarik, Mary ; Iannuzzi, Michael C. ; Rybicki, Benjamin A. ; Pandey, Janardan P. ; Newman, Lee S. ; Magira, Eleni ; Beznik-Cizman, Bojana ; Monos, Dimitri</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c526t-31cc2a2226dadcd5a11d509aa6f408646e6d28b42777bc48b4641ec8078439ea3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Black People - genetics</topic><topic>Gene Frequency</topic><topic>Geography</topic><topic>Histocompatibility Testing</topic><topic>HLA-DR Antigens - blood</topic><topic>HLA-DR Antigens - genetics</topic><topic>HLA-DRB1 Chains</topic><topic>Humans</topic><topic>Prospective Studies</topic><topic>Risk Factors</topic><topic>Sarcoidosis - blood</topic><topic>Sarcoidosis - genetics</topic><topic>Sarcoidosis - immunology</topic><topic>United States</topic><topic>White People - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rossman, Milton D.</creatorcontrib><creatorcontrib>Thompson, Bruce</creatorcontrib><creatorcontrib>Frederick, Margaret</creatorcontrib><creatorcontrib>Maliarik, Mary</creatorcontrib><creatorcontrib>Iannuzzi, Michael C.</creatorcontrib><creatorcontrib>Rybicki, Benjamin A.</creatorcontrib><creatorcontrib>Pandey, Janardan P.</creatorcontrib><creatorcontrib>Newman, Lee S.</creatorcontrib><creatorcontrib>Magira, Eleni</creatorcontrib><creatorcontrib>Beznik-Cizman, Bojana</creatorcontrib><creatorcontrib>Monos, Dimitri</creatorcontrib><creatorcontrib>ACCESS Group</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rossman, Milton D.</au><au>Thompson, Bruce</au><au>Frederick, Margaret</au><au>Maliarik, Mary</au><au>Iannuzzi, Michael C.</au><au>Rybicki, Benjamin A.</au><au>Pandey, Janardan P.</au><au>Newman, Lee S.</au><au>Magira, Eleni</au><au>Beznik-Cizman, Bojana</au><au>Monos, Dimitri</au><aucorp>ACCESS Group</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>HLA-DRB11101: A Significant Risk Factor for Sarcoidosis in Blacks and Whites</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>2003-10-01</date><risdate>2003</risdate><volume>73</volume><issue>4</issue><spage>720</spage><epage>735</epage><pages>720-735</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><abstract>Sarcoidosis is a granulomatous disorder of unknown etiology, associated with an accumulation of CD4+ T cells and a TH1 immune response. Since previous studies of
HLA associations with sarcoidosis were limited by serologic or low-resolution molecular identification, we performed high-resolution typing for the
HLA-DPB1, HLA-DQB1, HLA-DRB1, and
HLA-DRB3 loci and the presence of the
DRB4 or
DRB5 locus, to define
HLA class II associations with sarcoidosis. A Case Control Etiologic Study of Sarcoidosis (ACCESS) enrolled biopsy-confirmed cases (736 total) from 10 centers in the United States. Seven hundred six (706) controls were case matched for age, race, sex, and geographic area. We studied the first 474 ACCESS patients and case-matched controls. The
HLA-DRB1 alleles were differentially distributed between cases and controls (
P<.0001). The
HLA-DRB1*1101 allele was associated (
P<.01) with sarcoidosis in blacks and whites and had a population attributable risk of 16% in blacks and 9% in whites.
HLA-DRB1-F
47 was the amino acid residue most associated with sarcoidosis and independently associated with sarcoidosis in whites. The
HLA-DPB1 locus also contributed to susceptibility for sarcoidosis and, in contrast to chronic beryllium disease, a non–E
69-containing allele,
HLA-DPB1*0101, conveyed most of the risk. Although significant differences were observed in the distribution of
HLA class II alleles between blacks and whites, only
HLA-DRB1*1501 was differentially associated with sarcoidosis (
P<.003). In addition to being susceptibility markers,
HLA class II alleles may be markers for different phenotypes of sarcoidosis (
DRB1*0401 for eye in blacks and whites, DRB3 for bone marrow in blacks, and
DPB1*0101 for hypercalcemia in whites). These studies confirm a genetic predisposition for sarcoidosis and present evidence for the allelic variation at the
HLA-DRB1 locus as a major contributor.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>14508706</pmid><doi>10.1086/378097</doi><tpages>16</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | American journal of human genetics, 2003-10, Vol.73 (4), p.720-735 |
| issn | 0002-9297 1537-6605 |
| language | eng |
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| source | MEDLINE; Cell Press Free Archives; Elsevier ScienceDirect Journals; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Black People - genetics Gene Frequency Geography Histocompatibility Testing HLA-DR Antigens - blood HLA-DR Antigens - genetics HLA-DRB1 Chains Humans Prospective Studies Risk Factors Sarcoidosis - blood Sarcoidosis - genetics Sarcoidosis - immunology United States White People - genetics |
| title | HLA-DRB11101: A Significant Risk Factor for Sarcoidosis in Blacks and Whites |
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