Epistatic effects occurring among susceptibility and protective MHC genes in IgA deficiency
Immunoglobulin A deficiency (IgAD), the most prevalent primary immunodeficiency in Caucasian populations, shows strong evidence of polygenic inheritance with several associated genes being located in the major histocompatibility complex (MHC). Our aims were to determine which previously described MH...
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| Veröffentlicht in: | Genes and immunity 2003-06, Vol.4 (4), p.316-320 |
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| creator | Martínez, A Gual, L Fernández-Arquero, M Nogales, A Ferreira, A Garcia-Rodriguez, M C Fontan, G Concha, EG de la |
| description | Immunoglobulin A deficiency (IgAD), the most prevalent primary immunodeficiency in Caucasian populations, shows strong evidence of polygenic inheritance with several associated genes being located in the major histocompatibility complex (MHC). Our aims were to determine which previously described MHC associations were primary and not secondary to a decrease or an increase in other MHC haplotype frequencies, to study the genetic interactions between all disease-associated MHC haplotypes and, finally, to ascertain the relative importance of protection vs susceptibility. A relative predispositional effect (RPE) study showed that in addition to the primary positive association of IgAD with HLA-DRB1
*
0102, DR3/TNFa2b3, and DR7 carrying haplotypes, DRB1
*
1501 was a marker of a primary protective factor in the Spanish population. Our data also indicate that the combined presence in an individual of two MHC susceptibility haplotypes notably increases the predisposition to the disease and that DRB1
*
1501 positive haplotypes eliminate the susceptibility conferred by any other MHC haplotype. |
| doi_str_mv | 10.1038/sj.gene.6363955 |
| format | Article |
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*
0102, DR3/TNFa2b3, and DR7 carrying haplotypes, DRB1
*
1501 was a marker of a primary protective factor in the Spanish population. Our data also indicate that the combined presence in an individual of two MHC susceptibility haplotypes notably increases the predisposition to the disease and that DRB1
*
1501 positive haplotypes eliminate the susceptibility conferred by any other MHC haplotype.</description><identifier>ISSN: 1466-4879</identifier><identifier>EISSN: 1476-5470</identifier><identifier>DOI: 10.1038/sj.gene.6363955</identifier><identifier>PMID: 12761569</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Alleles ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; brief-communication ; Cancer Research ; Chi-Square Distribution ; Confidence Intervals ; Diseases ; Drb1 protein ; Epistasis ; Epistasis, Genetic ; Fundamental and applied biological sciences. Psychology ; Gene Expression ; Gene Frequency - genetics ; Genes, MHC Class II ; Genetic Predisposition to Disease ; Genotype ; Haplotypes ; Haplotypes - genetics ; Histocompatibility antigen HLA ; HLA-D Antigens - genetics ; Human Genetics ; Humans ; IgA Deficiency - genetics ; Immunodeficiency ; Immunoglobulin A ; Immunology ; Major histocompatibility complex ; Microbiology ; Multifactorial diseases ; Odds Ratio ; Polygenic inheritance ; Primary immunodeficiencies ; Susceptibility</subject><ispartof>Genes and immunity, 2003-06, Vol.4 (4), p.316-320</ispartof><rights>Springer Nature Limited 2003</rights><rights>2003 INIST-CNRS</rights><rights>COPYRIGHT 2003 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Jun 2003</rights><rights>Nature Publishing Group 2003.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c573t-55100cc36a9aaeb86714abbef1e810412985d6d5dc1f0bb4a4bffab51f7a32993</citedby><cites>FETCH-LOGICAL-c573t-55100cc36a9aaeb86714abbef1e810412985d6d5dc1f0bb4a4bffab51f7a32993</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/sj.gene.6363955$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/sj.gene.6363955$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14842724$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12761569$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Martínez, A</creatorcontrib><creatorcontrib>Gual, L</creatorcontrib><creatorcontrib>Fernández-Arquero, M</creatorcontrib><creatorcontrib>Nogales, A</creatorcontrib><creatorcontrib>Ferreira, A</creatorcontrib><creatorcontrib>Garcia-Rodriguez, M C</creatorcontrib><creatorcontrib>Fontan, G</creatorcontrib><creatorcontrib>Concha, EG de la</creatorcontrib><title>Epistatic effects occurring among susceptibility and protective MHC genes in IgA deficiency</title><title>Genes and immunity</title><addtitle>Genes Immun</addtitle><addtitle>Genes Immun</addtitle><description>Immunoglobulin A deficiency (IgAD), the most prevalent primary immunodeficiency in Caucasian populations, shows strong evidence of polygenic inheritance with several associated genes being located in the major histocompatibility complex (MHC). Our aims were to determine which previously described MHC associations were primary and not secondary to a decrease or an increase in other MHC haplotype frequencies, to study the genetic interactions between all disease-associated MHC haplotypes and, finally, to ascertain the relative importance of protection vs susceptibility. A relative predispositional effect (RPE) study showed that in addition to the primary positive association of IgAD with HLA-DRB1
*
0102, DR3/TNFa2b3, and DR7 carrying haplotypes, DRB1
*
1501 was a marker of a primary protective factor in the Spanish population. Our data also indicate that the combined presence in an individual of two MHC susceptibility haplotypes notably increases the predisposition to the disease and that DRB1
*
1501 positive haplotypes eliminate the susceptibility conferred by any other MHC haplotype.</description><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>brief-communication</subject><subject>Cancer Research</subject><subject>Chi-Square Distribution</subject><subject>Confidence Intervals</subject><subject>Diseases</subject><subject>Drb1 protein</subject><subject>Epistasis</subject><subject>Epistasis, Genetic</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Expression</subject><subject>Gene Frequency - genetics</subject><subject>Genes, MHC Class II</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Haplotypes - genetics</subject><subject>Histocompatibility antigen HLA</subject><subject>HLA-D Antigens - genetics</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>IgA Deficiency - genetics</subject><subject>Immunodeficiency</subject><subject>Immunoglobulin A</subject><subject>Immunology</subject><subject>Major histocompatibility complex</subject><subject>Microbiology</subject><subject>Multifactorial diseases</subject><subject>Odds Ratio</subject><subject>Polygenic inheritance</subject><subject>Primary immunodeficiencies</subject><subject>Susceptibility</subject><issn>1466-4879</issn><issn>1476-5470</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFks2LEzEYhwdR3HX17EkZFAUP0807-ZxjKatbWBH8OHkImUxSUqaZbpIR-9-bsXVLxUUCSUie3_tdFM8BzQBhcRnXs5XxZsYwww2lD4pzIJxVlHD0cLozVhHBm7PiSYxrhIABax4XZ1BzBpQ158X3q62LSSWnS2Ot0SmWg9ZjCM6vSrUZ8h7HqM02udb1Lu1K5btyG4aUWffDlB-vF-UUQiydL5eredkZ67QzXu-eFo-s6qN5djgvim_vr74urqubTx-Wi_lNpSnHqaIUENIaM9UoZVrBOBDVtsaCEYAI1I2gHetop8GitiWKtNaqloLlCtdNgy-Kt3u7Oazb0cQkNy6H3PfKm2GMkmNcM1rT_4IguOBU1Bl8_Re4HsbgcxKyZgQ4bgRApl7dS4EQFEju0Z2pleqNdN4OKSg9-ZVzEHWDKf4d2ewfVF6d2Tg9-FzT_H4ieHciyEwyP9NKjTHK5ZfPp-zlntVhiDEYK7fBbVTYSUByGiMZ13LqoTyMUVa8PGQ2thvTHfnD3GTgzQFQUaveBuW1i0eOCFLzmmQO7bm4nSbKhGOJ7vf9Yi_xKo3B3Nn88_8LKn3n7w</recordid><startdate>20030601</startdate><enddate>20030601</enddate><creator>Martínez, A</creator><creator>Gual, L</creator><creator>Fernández-Arquero, M</creator><creator>Nogales, A</creator><creator>Ferreira, A</creator><creator>Garcia-Rodriguez, M C</creator><creator>Fontan, G</creator><creator>Concha, EG de la</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</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>ISR</scope><scope>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20030601</creationdate><title>Epistatic effects occurring among susceptibility and protective MHC genes in IgA deficiency</title><author>Martínez, A ; Gual, L ; Fernández-Arquero, M ; Nogales, A ; Ferreira, A ; Garcia-Rodriguez, M C ; Fontan, G ; Concha, EG de la</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c573t-55100cc36a9aaeb86714abbef1e810412985d6d5dc1f0bb4a4bffab51f7a32993</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Alleles</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>brief-communication</topic><topic>Cancer Research</topic><topic>Chi-Square Distribution</topic><topic>Confidence Intervals</topic><topic>Diseases</topic><topic>Drb1 protein</topic><topic>Epistasis</topic><topic>Epistasis, Genetic</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Expression</topic><topic>Gene Frequency - genetics</topic><topic>Genes, MHC Class II</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>Haplotypes - genetics</topic><topic>Histocompatibility antigen HLA</topic><topic>HLA-D Antigens - genetics</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>IgA Deficiency - genetics</topic><topic>Immunodeficiency</topic><topic>Immunoglobulin A</topic><topic>Immunology</topic><topic>Major histocompatibility complex</topic><topic>Microbiology</topic><topic>Multifactorial diseases</topic><topic>Odds Ratio</topic><topic>Polygenic inheritance</topic><topic>Primary immunodeficiencies</topic><topic>Susceptibility</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Martínez, A</creatorcontrib><creatorcontrib>Gual, L</creatorcontrib><creatorcontrib>Fernández-Arquero, M</creatorcontrib><creatorcontrib>Nogales, A</creatorcontrib><creatorcontrib>Ferreira, A</creatorcontrib><creatorcontrib>Garcia-Rodriguez, M C</creatorcontrib><creatorcontrib>Fontan, G</creatorcontrib><creatorcontrib>Concha, EG de la</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>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Genes and immunity</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Martínez, A</au><au>Gual, L</au><au>Fernández-Arquero, M</au><au>Nogales, A</au><au>Ferreira, A</au><au>Garcia-Rodriguez, M C</au><au>Fontan, G</au><au>Concha, EG de la</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Epistatic effects occurring among susceptibility and protective MHC genes in IgA deficiency</atitle><jtitle>Genes and immunity</jtitle><stitle>Genes Immun</stitle><addtitle>Genes Immun</addtitle><date>2003-06-01</date><risdate>2003</risdate><volume>4</volume><issue>4</issue><spage>316</spage><epage>320</epage><pages>316-320</pages><issn>1466-4879</issn><eissn>1476-5470</eissn><abstract>Immunoglobulin A deficiency (IgAD), the most prevalent primary immunodeficiency in Caucasian populations, shows strong evidence of polygenic inheritance with several associated genes being located in the major histocompatibility complex (MHC). Our aims were to determine which previously described MHC associations were primary and not secondary to a decrease or an increase in other MHC haplotype frequencies, to study the genetic interactions between all disease-associated MHC haplotypes and, finally, to ascertain the relative importance of protection vs susceptibility. A relative predispositional effect (RPE) study showed that in addition to the primary positive association of IgAD with HLA-DRB1
*
0102, DR3/TNFa2b3, and DR7 carrying haplotypes, DRB1
*
1501 was a marker of a primary protective factor in the Spanish population. Our data also indicate that the combined presence in an individual of two MHC susceptibility haplotypes notably increases the predisposition to the disease and that DRB1
*
1501 positive haplotypes eliminate the susceptibility conferred by any other MHC haplotype.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>12761569</pmid><doi>10.1038/sj.gene.6363955</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Alleles Biological and medical sciences Biomedical and Life Sciences Biomedicine brief-communication Cancer Research Chi-Square Distribution Confidence Intervals Diseases Drb1 protein Epistasis Epistasis, Genetic Fundamental and applied biological sciences. Psychology Gene Expression Gene Frequency - genetics Genes, MHC Class II Genetic Predisposition to Disease Genotype Haplotypes Haplotypes - genetics Histocompatibility antigen HLA HLA-D Antigens - genetics Human Genetics Humans IgA Deficiency - genetics Immunodeficiency Immunoglobulin A Immunology Major histocompatibility complex Microbiology Multifactorial diseases Odds Ratio Polygenic inheritance Primary immunodeficiencies Susceptibility |
| title | Epistatic effects occurring among susceptibility and protective MHC genes in IgA deficiency |
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