Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis
Takayasu arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu arteritis remains poorly understood, but genetic contribution to the disease pathogenesis is supported by the genetic association with HLA-B∗52. We genotyped ∼200,000 genetic variants in two ethnically dive...
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| Veröffentlicht in: | American journal of human genetics 2013-08, Vol.93 (2), p.298-305 |
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| creator | Saruhan-Direskeneli, Güher Hughes, Travis Aksu, Kenan Keser, Gokhan Coit, Patrick Aydin, Sibel Z. Alibaz-Oner, Fatma Kamalı, Sevil Inanc, Murat Carette, Simon Hoffman, Gary S. Akar, Servet Onen, Fatos Akkoc, Nurullah Khalidi, Nader A. Koening, Curry Karadag, Omer Kiraz, Sedat Langford, Carol A. McAlear, Carol A. Ozbalkan, Zeynep Ates, Askin Karaaslan, Yasar Maksimowicz-McKinnon, Kathleen Monach, Paul A. Ozer, Hüseyin T. Seyahi, Emire Fresko, Izzet Cefle, Ayse Seo, Philip Warrington, Kenneth J. Ozturk, Mehmet A. Ytterberg, Steven R. Cobankara, Veli Onat, A. Mesut Guthridge, Joel M. James, Judith A. Tunc, Ercan Duzgun, Nurşen Bıcakcıgil, Muge Yentür, Sibel P. Merkel, Peter A. Direskeneli, Haner Sawalha, Amr H. |
| description | Takayasu arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu arteritis remains poorly understood, but genetic contribution to the disease pathogenesis is supported by the genetic association with HLA-B∗52. We genotyped ∼200,000 genetic variants in two ethnically divergent Takayasu arteritis cohorts from Turkey and North America by using a custom-designed genotyping platform (Immunochip). Additional genetic variants and the classical HLA alleles were imputed and analyzed. We identified and confirmed two independent susceptibility loci within the HLA region (r2 < 0.2): HLA-B/MICA (rs12524487, OR = 3.29, p = 5.57 × 10−16) and HLA-DQB1/HLA-DRB1 (rs113452171, OR = 2.34, p = 3.74 × 10−9; and rs189754752, OR = 2.47, p = 4.22 × 10−9). In addition, we identified and confirmed a genetic association between Takayasu arteritis and the FCGR2A/FCGR3A locus on chromosome 1 (rs10919543, OR = 1.81, p = 5.89 × 10−12). The risk allele in this locus results in increased mRNA expression of FCGR2A. We also established the genetic association between IL12B and Takayasu arteritis (rs56167332, OR = 1.54, p = 2.18 × 10−8). |
| doi_str_mv | 10.1016/j.ajhg.2013.05.026 |
| format | Article |
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Mesut ; Guthridge, Joel M. ; James, Judith A. ; Tunc, Ercan ; Duzgun, Nurşen ; Bıcakcıgil, Muge ; Yentür, Sibel P. ; Merkel, Peter A. ; Direskeneli, Haner ; Sawalha, Amr H.</creator><creatorcontrib>Saruhan-Direskeneli, Güher ; Hughes, Travis ; Aksu, Kenan ; Keser, Gokhan ; Coit, Patrick ; Aydin, Sibel Z. ; Alibaz-Oner, Fatma ; Kamalı, Sevil ; Inanc, Murat ; Carette, Simon ; Hoffman, Gary S. ; Akar, Servet ; Onen, Fatos ; Akkoc, Nurullah ; Khalidi, Nader A. ; Koening, Curry ; Karadag, Omer ; Kiraz, Sedat ; Langford, Carol A. ; McAlear, Carol A. ; Ozbalkan, Zeynep ; Ates, Askin ; Karaaslan, Yasar ; Maksimowicz-McKinnon, Kathleen ; Monach, Paul A. ; Ozer, Hüseyin T. ; Seyahi, Emire ; Fresko, Izzet ; Cefle, Ayse ; Seo, Philip ; Warrington, Kenneth J. ; Ozturk, Mehmet A. ; Ytterberg, Steven R. ; Cobankara, Veli ; Onat, A. Mesut ; Guthridge, Joel M. ; James, Judith A. ; Tunc, Ercan ; Duzgun, Nurşen ; Bıcakcıgil, Muge ; Yentür, Sibel P. ; Merkel, Peter A. ; Direskeneli, Haner ; Sawalha, Amr H.</creatorcontrib><description>Takayasu arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu arteritis remains poorly understood, but genetic contribution to the disease pathogenesis is supported by the genetic association with HLA-B∗52. We genotyped ∼200,000 genetic variants in two ethnically divergent Takayasu arteritis cohorts from Turkey and North America by using a custom-designed genotyping platform (Immunochip). Additional genetic variants and the classical HLA alleles were imputed and analyzed. We identified and confirmed two independent susceptibility loci within the HLA region (r2 < 0.2): HLA-B/MICA (rs12524487, OR = 3.29, p = 5.57 × 10−16) and HLA-DQB1/HLA-DRB1 (rs113452171, OR = 2.34, p = 3.74 × 10−9; and rs189754752, OR = 2.47, p = 4.22 × 10−9). In addition, we identified and confirmed a genetic association between Takayasu arteritis and the FCGR2A/FCGR3A locus on chromosome 1 (rs10919543, OR = 1.81, p = 5.89 × 10−12). The risk allele in this locus results in increased mRNA expression of FCGR2A. We also established the genetic association between IL12B and Takayasu arteritis (rs56167332, OR = 1.54, p = 2.18 × 10−8).</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1016/j.ajhg.2013.05.026</identifier><identifier>PMID: 23830517</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Custom design ; Female ; Gene loci ; Genetic Loci ; Genetic Predisposition to Disease ; Genotype & phenotype ; Genotyping Techniques ; Histocompatibility Antigens Class I - genetics ; HLA-B Antigens - genetics ; HLA-DQ beta-Chains - genetics ; HLA-DRB1 Chains - genetics ; Humans ; Inflammatory diseases ; Interleukin-12 Subunit p40 - genetics ; Male ; Mutation ; North America - epidemiology ; Pathogenesis ; Receptors, IgG - genetics ; Risk ; Takayasu Arteritis - ethnology ; Takayasu Arteritis - genetics ; Turkey - epidemiology ; Veins & arteries</subject><ispartof>American journal of human genetics, 2013-08, Vol.93 (2), p.298-305</ispartof><rights>2013 The American Society of Human Genetics</rights><rights>Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.</rights><rights>Copyright Cell Press Aug 8, 2013</rights><rights>2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2013 The American Society of Human Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c549t-46810217445a81ec0cfd8df91652eaae9a088675991e269c76c3cb5dd46109283</citedby><cites>FETCH-LOGICAL-c549t-46810217445a81ec0cfd8df91652eaae9a088675991e269c76c3cb5dd46109283</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/PMC3738826/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.ajhg.2013.05.026$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,3548,27923,27924,45994,53790,53792</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23830517$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Saruhan-Direskeneli, Güher</creatorcontrib><creatorcontrib>Hughes, Travis</creatorcontrib><creatorcontrib>Aksu, Kenan</creatorcontrib><creatorcontrib>Keser, Gokhan</creatorcontrib><creatorcontrib>Coit, Patrick</creatorcontrib><creatorcontrib>Aydin, Sibel Z.</creatorcontrib><creatorcontrib>Alibaz-Oner, Fatma</creatorcontrib><creatorcontrib>Kamalı, Sevil</creatorcontrib><creatorcontrib>Inanc, Murat</creatorcontrib><creatorcontrib>Carette, Simon</creatorcontrib><creatorcontrib>Hoffman, Gary S.</creatorcontrib><creatorcontrib>Akar, Servet</creatorcontrib><creatorcontrib>Onen, Fatos</creatorcontrib><creatorcontrib>Akkoc, Nurullah</creatorcontrib><creatorcontrib>Khalidi, Nader A.</creatorcontrib><creatorcontrib>Koening, Curry</creatorcontrib><creatorcontrib>Karadag, Omer</creatorcontrib><creatorcontrib>Kiraz, Sedat</creatorcontrib><creatorcontrib>Langford, Carol A.</creatorcontrib><creatorcontrib>McAlear, Carol A.</creatorcontrib><creatorcontrib>Ozbalkan, Zeynep</creatorcontrib><creatorcontrib>Ates, Askin</creatorcontrib><creatorcontrib>Karaaslan, Yasar</creatorcontrib><creatorcontrib>Maksimowicz-McKinnon, Kathleen</creatorcontrib><creatorcontrib>Monach, Paul A.</creatorcontrib><creatorcontrib>Ozer, Hüseyin T.</creatorcontrib><creatorcontrib>Seyahi, Emire</creatorcontrib><creatorcontrib>Fresko, Izzet</creatorcontrib><creatorcontrib>Cefle, Ayse</creatorcontrib><creatorcontrib>Seo, Philip</creatorcontrib><creatorcontrib>Warrington, Kenneth J.</creatorcontrib><creatorcontrib>Ozturk, Mehmet A.</creatorcontrib><creatorcontrib>Ytterberg, Steven R.</creatorcontrib><creatorcontrib>Cobankara, Veli</creatorcontrib><creatorcontrib>Onat, A. Mesut</creatorcontrib><creatorcontrib>Guthridge, Joel M.</creatorcontrib><creatorcontrib>James, Judith A.</creatorcontrib><creatorcontrib>Tunc, Ercan</creatorcontrib><creatorcontrib>Duzgun, Nurşen</creatorcontrib><creatorcontrib>Bıcakcıgil, Muge</creatorcontrib><creatorcontrib>Yentür, Sibel P.</creatorcontrib><creatorcontrib>Merkel, Peter A.</creatorcontrib><creatorcontrib>Direskeneli, Haner</creatorcontrib><creatorcontrib>Sawalha, Amr H.</creatorcontrib><title>Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Takayasu arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu arteritis remains poorly understood, but genetic contribution to the disease pathogenesis is supported by the genetic association with HLA-B∗52. We genotyped ∼200,000 genetic variants in two ethnically divergent Takayasu arteritis cohorts from Turkey and North America by using a custom-designed genotyping platform (Immunochip). Additional genetic variants and the classical HLA alleles were imputed and analyzed. We identified and confirmed two independent susceptibility loci within the HLA region (r2 < 0.2): HLA-B/MICA (rs12524487, OR = 3.29, p = 5.57 × 10−16) and HLA-DQB1/HLA-DRB1 (rs113452171, OR = 2.34, p = 3.74 × 10−9; and rs189754752, OR = 2.47, p = 4.22 × 10−9). In addition, we identified and confirmed a genetic association between Takayasu arteritis and the FCGR2A/FCGR3A locus on chromosome 1 (rs10919543, OR = 1.81, p = 5.89 × 10−12). The risk allele in this locus results in increased mRNA expression of FCGR2A. We also established the genetic association between IL12B and Takayasu arteritis (rs56167332, OR = 1.54, p = 2.18 × 10−8).</description><subject>Custom design</subject><subject>Female</subject><subject>Gene loci</subject><subject>Genetic Loci</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype & phenotype</subject><subject>Genotyping Techniques</subject><subject>Histocompatibility Antigens Class I - genetics</subject><subject>HLA-B Antigens - genetics</subject><subject>HLA-DQ beta-Chains - genetics</subject><subject>HLA-DRB1 Chains - genetics</subject><subject>Humans</subject><subject>Inflammatory diseases</subject><subject>Interleukin-12 Subunit p40 - genetics</subject><subject>Male</subject><subject>Mutation</subject><subject>North America - epidemiology</subject><subject>Pathogenesis</subject><subject>Receptors, IgG - genetics</subject><subject>Risk</subject><subject>Takayasu Arteritis - ethnology</subject><subject>Takayasu Arteritis - genetics</subject><subject>Turkey - epidemiology</subject><subject>Veins & arteries</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kUFv1DAQhS0EokvhD3BAkbhwSRg7sWNLCKmqoFRaxIFytrzOpJ2QjRfbqbT_nmy3rYADpznMN2_mzWPsNYeKA1fvh8oNN9eVAF5XICsQ6glbcVm3pVIgn7IVAIjSCNOesBcpDQCca6ifsxNR6xokb1dsfdnhlKkn7zKFqQh98XUeM-1GLC5wwky--D4nj7tMGxop74t18FTQVFy5n27v0lycxYyRMqWX7FnvxoSv7usp-_H509X5l3L97eLy_GxdetmYXDZKcxC8bRrpNEcPvu901xuupEDn0DjQWrXSGI5CGd8qX_uN7LpGcTBC16fs41F3N2-22PnFQXSj3UXauri3wZH9uzPRjb0Ot7Zua62FWgTe3QvE8GvGlO2WFo_j6CYMc7K8aRotDYfDrrf_oEOY47TYWyjBjRZGyYUSR8rHkFLE_vEYDvYQlh3sISx7CMuCtHB3xZs_bTyOPKSzAB-OAC7PvCWMNnnCyWNHEX22XaD_6f8GqiOllA</recordid><startdate>20130808</startdate><enddate>20130808</enddate><creator>Saruhan-Direskeneli, Güher</creator><creator>Hughes, Travis</creator><creator>Aksu, Kenan</creator><creator>Keser, Gokhan</creator><creator>Coit, Patrick</creator><creator>Aydin, Sibel Z.</creator><creator>Alibaz-Oner, Fatma</creator><creator>Kamalı, Sevil</creator><creator>Inanc, Murat</creator><creator>Carette, Simon</creator><creator>Hoffman, Gary S.</creator><creator>Akar, Servet</creator><creator>Onen, Fatos</creator><creator>Akkoc, Nurullah</creator><creator>Khalidi, Nader A.</creator><creator>Koening, Curry</creator><creator>Karadag, Omer</creator><creator>Kiraz, Sedat</creator><creator>Langford, Carol A.</creator><creator>McAlear, Carol A.</creator><creator>Ozbalkan, Zeynep</creator><creator>Ates, Askin</creator><creator>Karaaslan, Yasar</creator><creator>Maksimowicz-McKinnon, Kathleen</creator><creator>Monach, Paul A.</creator><creator>Ozer, Hüseyin T.</creator><creator>Seyahi, Emire</creator><creator>Fresko, Izzet</creator><creator>Cefle, Ayse</creator><creator>Seo, Philip</creator><creator>Warrington, Kenneth J.</creator><creator>Ozturk, Mehmet A.</creator><creator>Ytterberg, Steven R.</creator><creator>Cobankara, Veli</creator><creator>Onat, A. 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Mesut ; Guthridge, Joel M. ; James, Judith A. ; Tunc, Ercan ; Duzgun, Nurşen ; Bıcakcıgil, Muge ; Yentür, Sibel P. ; Merkel, Peter A. ; Direskeneli, Haner ; Sawalha, Amr H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c549t-46810217445a81ec0cfd8df91652eaae9a088675991e269c76c3cb5dd46109283</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Custom design</topic><topic>Female</topic><topic>Gene loci</topic><topic>Genetic Loci</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype & phenotype</topic><topic>Genotyping Techniques</topic><topic>Histocompatibility Antigens Class I - genetics</topic><topic>HLA-B Antigens - genetics</topic><topic>HLA-DQ beta-Chains - genetics</topic><topic>HLA-DRB1 Chains - genetics</topic><topic>Humans</topic><topic>Inflammatory diseases</topic><topic>Interleukin-12 Subunit p40 - genetics</topic><topic>Male</topic><topic>Mutation</topic><topic>North America - epidemiology</topic><topic>Pathogenesis</topic><topic>Receptors, IgG - genetics</topic><topic>Risk</topic><topic>Takayasu Arteritis - ethnology</topic><topic>Takayasu Arteritis - genetics</topic><topic>Turkey - epidemiology</topic><topic>Veins & arteries</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Saruhan-Direskeneli, Güher</creatorcontrib><creatorcontrib>Hughes, Travis</creatorcontrib><creatorcontrib>Aksu, Kenan</creatorcontrib><creatorcontrib>Keser, Gokhan</creatorcontrib><creatorcontrib>Coit, Patrick</creatorcontrib><creatorcontrib>Aydin, Sibel Z.</creatorcontrib><creatorcontrib>Alibaz-Oner, Fatma</creatorcontrib><creatorcontrib>Kamalı, Sevil</creatorcontrib><creatorcontrib>Inanc, Murat</creatorcontrib><creatorcontrib>Carette, Simon</creatorcontrib><creatorcontrib>Hoffman, Gary S.</creatorcontrib><creatorcontrib>Akar, Servet</creatorcontrib><creatorcontrib>Onen, Fatos</creatorcontrib><creatorcontrib>Akkoc, Nurullah</creatorcontrib><creatorcontrib>Khalidi, Nader A.</creatorcontrib><creatorcontrib>Koening, Curry</creatorcontrib><creatorcontrib>Karadag, Omer</creatorcontrib><creatorcontrib>Kiraz, Sedat</creatorcontrib><creatorcontrib>Langford, Carol A.</creatorcontrib><creatorcontrib>McAlear, Carol A.</creatorcontrib><creatorcontrib>Ozbalkan, Zeynep</creatorcontrib><creatorcontrib>Ates, Askin</creatorcontrib><creatorcontrib>Karaaslan, Yasar</creatorcontrib><creatorcontrib>Maksimowicz-McKinnon, Kathleen</creatorcontrib><creatorcontrib>Monach, Paul A.</creatorcontrib><creatorcontrib>Ozer, Hüseyin T.</creatorcontrib><creatorcontrib>Seyahi, Emire</creatorcontrib><creatorcontrib>Fresko, Izzet</creatorcontrib><creatorcontrib>Cefle, Ayse</creatorcontrib><creatorcontrib>Seo, Philip</creatorcontrib><creatorcontrib>Warrington, Kenneth J.</creatorcontrib><creatorcontrib>Ozturk, Mehmet A.</creatorcontrib><creatorcontrib>Ytterberg, Steven R.</creatorcontrib><creatorcontrib>Cobankara, Veli</creatorcontrib><creatorcontrib>Onat, A. Mesut</creatorcontrib><creatorcontrib>Guthridge, Joel M.</creatorcontrib><creatorcontrib>James, Judith A.</creatorcontrib><creatorcontrib>Tunc, Ercan</creatorcontrib><creatorcontrib>Duzgun, Nurşen</creatorcontrib><creatorcontrib>Bıcakcıgil, Muge</creatorcontrib><creatorcontrib>Yentür, Sibel P.</creatorcontrib><creatorcontrib>Merkel, Peter A.</creatorcontrib><creatorcontrib>Direskeneli, Haner</creatorcontrib><creatorcontrib>Sawalha, Amr H.</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>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</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>Saruhan-Direskeneli, Güher</au><au>Hughes, Travis</au><au>Aksu, Kenan</au><au>Keser, Gokhan</au><au>Coit, Patrick</au><au>Aydin, Sibel Z.</au><au>Alibaz-Oner, Fatma</au><au>Kamalı, Sevil</au><au>Inanc, Murat</au><au>Carette, Simon</au><au>Hoffman, Gary S.</au><au>Akar, Servet</au><au>Onen, Fatos</au><au>Akkoc, Nurullah</au><au>Khalidi, Nader A.</au><au>Koening, Curry</au><au>Karadag, Omer</au><au>Kiraz, Sedat</au><au>Langford, Carol A.</au><au>McAlear, Carol A.</au><au>Ozbalkan, Zeynep</au><au>Ates, Askin</au><au>Karaaslan, Yasar</au><au>Maksimowicz-McKinnon, Kathleen</au><au>Monach, Paul A.</au><au>Ozer, Hüseyin T.</au><au>Seyahi, Emire</au><au>Fresko, Izzet</au><au>Cefle, Ayse</au><au>Seo, Philip</au><au>Warrington, Kenneth J.</au><au>Ozturk, Mehmet A.</au><au>Ytterberg, Steven R.</au><au>Cobankara, Veli</au><au>Onat, A. Mesut</au><au>Guthridge, Joel M.</au><au>James, Judith A.</au><au>Tunc, Ercan</au><au>Duzgun, Nurşen</au><au>Bıcakcıgil, Muge</au><au>Yentür, Sibel P.</au><au>Merkel, Peter A.</au><au>Direskeneli, Haner</au><au>Sawalha, Amr H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>2013-08-08</date><risdate>2013</risdate><volume>93</volume><issue>2</issue><spage>298</spage><epage>305</epage><pages>298-305</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><abstract>Takayasu arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu arteritis remains poorly understood, but genetic contribution to the disease pathogenesis is supported by the genetic association with HLA-B∗52. We genotyped ∼200,000 genetic variants in two ethnically divergent Takayasu arteritis cohorts from Turkey and North America by using a custom-designed genotyping platform (Immunochip). Additional genetic variants and the classical HLA alleles were imputed and analyzed. We identified and confirmed two independent susceptibility loci within the HLA region (r2 < 0.2): HLA-B/MICA (rs12524487, OR = 3.29, p = 5.57 × 10−16) and HLA-DQB1/HLA-DRB1 (rs113452171, OR = 2.34, p = 3.74 × 10−9; and rs189754752, OR = 2.47, p = 4.22 × 10−9). In addition, we identified and confirmed a genetic association between Takayasu arteritis and the FCGR2A/FCGR3A locus on chromosome 1 (rs10919543, OR = 1.81, p = 5.89 × 10−12). The risk allele in this locus results in increased mRNA expression of FCGR2A. We also established the genetic association between IL12B and Takayasu arteritis (rs56167332, OR = 1.54, p = 2.18 × 10−8).</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>23830517</pmid><doi>10.1016/j.ajhg.2013.05.026</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0002-9297 |
| ispartof | American journal of human genetics, 2013-08, Vol.93 (2), p.298-305 |
| issn | 0002-9297 1537-6605 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3738826 |
| source | MEDLINE; Cell Press Free Archives; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; ScienceDirect Journals (5 years ago - present); PubMed Central |
| subjects | Custom design Female Gene loci Genetic Loci Genetic Predisposition to Disease Genotype & phenotype Genotyping Techniques Histocompatibility Antigens Class I - genetics HLA-B Antigens - genetics HLA-DQ beta-Chains - genetics HLA-DRB1 Chains - genetics Humans Inflammatory diseases Interleukin-12 Subunit p40 - genetics Male Mutation North America - epidemiology Pathogenesis Receptors, IgG - genetics Risk Takayasu Arteritis - ethnology Takayasu Arteritis - genetics Turkey - epidemiology Veins & arteries |
| title | Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis |
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