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1. Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study.

Author

Renauer PA, Saruhan-Direskeneli G, Coit P, Adler A, Aksu K, Keser G, Alibaz-Oner F, Aydin SZ, Kamali S, Inanc M, Carette S, Cuthbertson D, Hoffman GS, Akar S, Onen F, Akkoc N, Khalidi NA, Koening C, Karadag O, Kiraz S, Langford CA, Maksimowicz-McKinnon K, McAlear CA, Ozbalkan Z, Ates A, Karaaslan Y, Duzgun N, Monach PA, Ozer HT, Erken E, Ozturk MA, Yazici A, Cefle A, Onat AM, Kisacik B, Pagnoux C, Kasifoglu T, Seyahi E, Fresko I, Seo P, Sreih AG, Warrington KJ, Ytterberg SR, Cobankara V, Cunninghame-Graham DS, Vyse TJ, Pamuk ON, Tunc SE, Dalkilic E, Bicakcigil M, Yentur SP, Wren JD, Merkel PA, Direskeneli H, and Sawalha AH

Subjects
Case-Control Studies, Cohort Studies, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, North America, Odds Ratio, Ribosomal Protein S9, Turkey, Antigens, CD genetics, Chromosomes, Human, Pair 21 genetics, Interleukin-6 genetics, Receptors, Immunologic genetics, Ribosomal Proteins genetics, Takayasu Arteritis genetics, White People genetics
Abstract

Objective: Takayasu arteritis is a rare large vessel vasculitis with incompletely understood etiology. This study was undertaken to perform the first unbiased genome-wide association analysis of Takayasu arteritis., Methods: Two independent cohorts of patients with Takayasu arteritis from Turkey and North America were included in our study. The Turkish cohort consisted of 559 patients and 489 controls, and the North American cohort consisted of 134 patients and 1,047 controls of European ancestry. Genotyping was performed using the Omni1-Quad and Omni2.5 genotyping arrays. Genotyping data were subjected to rigorous quality control measures and subsequently analyzed to discover genetic susceptibility loci for Takayasu arteritis., Results: We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)). The genetic susceptibility locus in RPS9/LILRB3 lies within the leukocyte receptor complex gene cluster on chromosome 19q13.4, and the disease risk variant in this locus correlates with reduced expression of multiple genes including the inhibitory leukocyte immunoglobulin-like receptor gene LILRB3 (P = 2.29 × 10(-8)). In addition, we identified candidate susceptibility genes with suggestive levels of association (P < 1 × 10(-5)) with Takayasu arteritis, including PCSK5, LILRA3, PPM1G/NRBP1, and PTK2B., Conclusion: Our findings indicate novel genetic susceptibility loci for Takayasu arteritis and uncover potentially important aspects of the pathophysiology of this form of vasculitis., (© 2015, American College of Rheumatology.)

Published
2015
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2. Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study

Author

Renauer, Paul A., Saruhan-Direskeneli, Guher, Coit, Patrick, Adler, Adam, Aksu, Kenan, Keser, Gokhan, Alibaz-Oner, Fatma, Aydin, Sibel Z., Kamali, Sevil, Inanc, Murat, Carette, Simon, Cuthbertson, David, Hoffman, Gary S., Akar, Servet, Onen, Fatos, Akkoc, Nurullah, Khalidi, Nader A., Koening, Curry, Karadag, Omer, Kiraz, Sedat, Langford, Carol A., Maksimowicz-McKinnon, Kathleen, McAlear, Carol A., Ozbalkan, Zeynep, Ates, Askin, Karaaslan, Yasar, Duzgun, Nursen, Monach, Paul A., Ozer, Huseyin T. E., Erken, Eren, Ozturk, Mehmet A., Yazici, Ayten, Cefle, Ayse, Onat, Ahmet Mesut, Kisacik, Bunyamin, Pagnoux, Christian, Kasifoglu, Timucin, Seyahi, Emire, Fresko, Izzet, Seo, Philip, Sreih, Antoine G., Warrington, Kenneth J., Ytterberg, Steven R., Cobankara, Veli, Cunninghame-Graham, Deborah S., Vyse, Timothy J., Pamuk, Omer N., Tunc, S. Ercan, Dalkilic, Ediz, Bicakcigil, Muge, Yentur, Sibel P., Wren, Jonathan D., Merkel, Peter A., Direskeneli, Haner, Sawalha, Amr H., Ege Üniversitesi, and İç Hastalıkları

Subjects
genetic association, Turkey, Chromosomes, Human, Pair 21, genotype, chromosome 19q, genetic risk, gene cluster, Turkey (republic), Cohort Studies, quantitative trait locus, single nucleotide polymorphism, genetic variability, Odds Ratio, genetics, lilra3 gene, Receptors, Immunologic, skin and connective tissue diseases, ptk2b gene, immunoglobulin receptor, aorta arch syndrome, lilrb3 gene, cohort analysis, chromosome 21, genotyping technique, priority journal, ribosomal protein s9 gene, spacer DNA, North American, Ribosomal Proteins, European Continental Ancestry Group, interleukin 6, IL6 protein, human, Caucasian, European, ribosomal protein S9, Article, ribosome protein, chromosome 21q, Rheumatology, Antigens, CD, Humans, controlled study, Genetic Predisposition to Disease, human, cardiovascular diseases, quality control, gene, gene identification, leukocyte antigen, Interleukin-6, LILRB3 protein, human, case control study, major clinical study, Takayasu Arteritis, pcsk5 gene, ppm1g gene, Case-Control Studies, North America, Turk (people), genetic predisposition, nrbp1 gene, genetic susceptibility, Genome-Wide Association Study
Abstract

WOS: 000353775900027, PubMed ID: 25604533, Objective. Takayasu arteritis is a rare large vessel vasculitis with incompletely understood etiology. This study was undertaken to perform the first unbiased genome-wide association analysis of Takayasu arteritis. Methods. Two independent cohorts of patients with Takayasu arteritis from Turkey and North America were included in our study. The Turkish cohort consisted of 559 patients and 489 controls, and the North American cohort consisted of 134 patients and 1,047 controls of European ancestry. Genotyping was performed using the Omni1-Quad and Omni2.5 genotyping arrays. Genotyping data were subjected to rigorous quality control measures and subsequently analyzed to discover genetic susceptibility loci for Takayasu arteritis. Results. We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 x 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 x 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 x 10(-10)). The genetic susceptibility locus in RPS9/LILRB3 lies within the leukocyte receptor complex gene cluster on chromosome 19q13.4, and the disease risk variant in this locus correlates with reduced expression of multiple genes including the inhibitory leukocyte immunoglobulin-like receptor gene LILRB3 (P = 2.29 x 10(-8)). In addition, we identified candidate susceptibility genes with suggestive levels of association (P < 1 x 10(-5)) with Takayasu arteritis, including PCSK5, LILRA3, PPM1G/NRBP1, and PTK2B. Conclusion. Our findings indicate novel genetic susceptibility loci for Takayasu arteritis and uncover potentially important aspects of the pathophysiology of this form of vasculitis., University of MichiganUniversity of Michigan System; Vasculitis Foundation; NIH (National Institute of Arthritis and Musculoskeletal and Skin Diseases)United States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Arthritis & Musculoskeletal & Skin Diseases (NIAMS) [U54-AR-7319, U01-AR5-1874-04]; NIH (National Center for Research Resources)United States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Center for Research Resources (NCRR) [U54-RR-9497]; NIH (National Center for Advancing Translational Sciences, Office of Rare Diseases Research); NIHUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [3-P50-CA-093459, 5-P50-CA-097007, 5-R01-ES-011740, 5-R01-CA-133996]; AbbVieAbbott Laboratories; MSD; PfizerPfizer; Hoffmann-La RocheHoffmann-La Roche; GlaxoSmithKlineGlaxoSmithKline; Arthritis Research UKVersus Arthritis [19289], Supported by the University of Michigan and the Vasculitis Foundation. The Vasculitis Clinical Research Consortium has received support from the NIH (National Institute of Arthritis and Musculoskeletal and Skin Diseases grants U54-AR-7319 and U01-AR5-1874-04, National Center for Research Resources grant U54-RR-9497, and the National Center for Advancing Translational Sciences, Office of Rare Diseases Research). Genotyping data from European American controls were obtained from the High Density SNP Association Analysis of Melanoma: Case-Control and Outcomes Investigation data set (dbGaP study accession: phs000187.v1.p1). Research support for this data set was provided by the NIH (grants 3-P50-CA-093459, 5-P50-CA-097007, 5-R01-ES-011740, and 5-R01-CA-133996).; Dr. Aydin has received consulting fees, speaking fees, and/or honoraria from AbbVie, MSD, and Pfizer (less than $10,000 each). Dr. Pagnoux has received consulting fees, speaking fees, and/or honoraria from Hoffmann-La Roche and GlaxoSmithKline (less than $10,000 each).

Published
2015

3. Genome-wide association study identifies susceptibility loci in IL6, RPS9/LILRB3, and an intergenic locus on chromosome 21q22 in Takayasu’s arteritis

Author

Renauer, Paul, Saruhan-Direskeneli, Guher, Coit, Patrick, Adler, Adam, Aksu, Kenan, Keser, Gokhan, Alibaz-Oner, Fatma, Aydin, Sibel Z., Kamali, Sevil, Inanc, Murat, Carette, Simon, Cuthbertson, David, Hoffman, Gary S., Akar, Servet, Onen, Fatos, Akkoc, Nurullah, Khalidi, Nader A., Koening, Curry, Karadag, Omer, Kiraz, Sedat, Langford, Carol A., Maksimowicz-McKinnon, Kathleen, McAlear, Carol A., Ozbalkan, Zeynep, Ates, Askin, Karaaslan, Yasar, Duzgun, Nursen, Monach, Paul A., Ozer, Huseyin TE, Erken, Eren, Ozturk, Mehmet A., Yazici, Ayten, Cefle, Ayse, Onat, A. Mesut, Kisacik, Bunyamin, Pagnoux, Christian, Kasifoglu, Timucin, Seyahi, Emire, Fresko, Izzet, Seo, Philip, Sreih, Antoine, Warrington, Kenneth J., Ytterberg, Steven R., Cobankara, Veli, Cunninghame-Graham, Deborah S., Vyse, Timothy J., Pamuk, Omer N., Tunc, Ercan, Dalkilic, Ediz, Bicakcigil, Muge, Yentur, Sibel P., Wren, Jonathan D., Merkel, Peter A., Direskeneli, Haner, and Sawalha, Amr H.

Subjects
Ribosomal Proteins, Turkey, Chromosomes, Human, Pair 21, Interleukin-6, Ribosomal Protein S9, Takayasu Arteritis, Article, White People, Cohort Studies, Antigens, CD, Case-Control Studies, North America, Odds Ratio, Humans, Genetic Predisposition to Disease, Receptors, Immunologic, Genome-Wide Association Study
Abstract

Takayasu arteritis is a rare large vessel vasculitis with incompletely understood etiology. This study was undertaken to perform the first unbiased genome-wide association analysis of Takayasu arteritis.Two independent cohorts of patients with Takayasu arteritis from Turkey and North America were included in our study. The Turkish cohort consisted of 559 patients and 489 controls, and the North American cohort consisted of 134 patients and 1,047 controls of European ancestry. Genotyping was performed using the Omni1-Quad and Omni2.5 genotyping arrays. Genotyping data were subjected to rigorous quality control measures and subsequently analyzed to discover genetic susceptibility loci for Takayasu arteritis.We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)). The genetic susceptibility locus in RPS9/LILRB3 lies within the leukocyte receptor complex gene cluster on chromosome 19q13.4, and the disease risk variant in this locus correlates with reduced expression of multiple genes including the inhibitory leukocyte immunoglobulin-like receptor gene LILRB3 (P = 2.29 × 10(-8)). In addition, we identified candidate susceptibility genes with suggestive levels of association (P1 × 10(-5)) with Takayasu arteritis, including PCSK5, LILRA3, PPM1G/NRBP1, and PTK2B.Our findings indicate novel genetic susceptibility loci for Takayasu arteritis and uncover potentially important aspects of the pathophysiology of this form of vasculitis.

Published
2015

4. Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study

Author

Sharon A. Chung, Gökhan Keser, Ayten Yazici, Zeynep Ozbalkan, R. Maughan, Servet Akar, Fatma Alibaz-Oner, Nurullah Akkoc, Kathleen McKinnon-Maksimowicz, Patrick Coit, Güher Saruhan-Direskeneli, Chris Wallace, Omer Karadag, Muge Bicakcigil, Antoine G. Sreih, Ahmet Mesut Onat, Paul A. Monach, Ying Sun, Kenan Aksu, Carol A. Langford, Mehmet Akif Ozturk, Izzet Fresko, Eren Erken, Lindsay Lally, Lindsy J. Forbess, Christian Pagnoux, Ayse Cefle, Ediz Dalkilic, Timothy J. Vyse, Veli Cobankara, Peter C. Grayson, Guillermo Reales, David Cuthbertson, Philip Seo, Gozde Yildirim Cetin, Curry L. Koening, Sibel P. Yentür, Yaşar Karaaslan, Lourdes Ortiz-Fernández, Nilufer Alpay-Kanitez, Bunyamin Kisacik, Xiufang Kong, Sibel Zehra Aydin, Enrico Tombetti, Sule Yavuz, Lindi Jiang, Fatos Onen, Allan P. Kiprianos, Nurşen Düzgün, Nader Khalidi, Justin C. Mason, Huiyong Chen, Aşkın Ateş, Angelo A. Manfredi, Murat Inanc, Sevil Kamali, Sema Kaymaz-Tahra, Steven R. Ytterberg, Timuçin Kaşifoğlu, Emire Seyahi, Elena Baldissera, Deborah S. Cunninghame-Graham, Sedat Kiraz, Jason M. Springer, Peter A. Merkel, Haner Direskeneli, Jonathan D. Wren, Kenneth J. Warrington, Carol A. McAlear, Amr H. Sawalha, Huseyin T. E. Ozer, Wallace, Chris [0000-0001-9755-1703], Apollo - University of Cambridge Repository, Ortiz-Fernandez, Lourdes, Saruhan-Direskeneli, Guher, Alibaz-Oner, Fatma, Kaymaz-Tahra, Sema, Coit, Patrick, Kong, Xiufang, Kiprianos, Allan P., Maughan, Robert T., Aydin, Sibel Z., Aksu, Kenan, Keser, Gokhan, Kamali, Sevil, Inanc, Murat, Springer, Jason, Akar, Servet, Onen, Fatos, Akkoc, Nurullah, Khalidi, Nader A., Koening, Curry, Karadag, Omer, Kiraz, Sedat, Forbess, Lindsy, Langford, Carol A., McAlear, Carol A., Ozbalkan, Zeynep, Yavuz, Sule, Cetin, Gozde Yildirim, Alpay-Kanitez, Nilufer, Chung, Sharon, Ates, Askin, Karaaslan, Yasar, McKinnon-Maksimowicz, Kathleen, Monach, Paul A., Ozer, Huseyin T. E., Seyahi, Emire, Fresko, Izzet, Cefle, Ayse, Seo, Philip, Warrington, Kenneth J., Ozturk, Mehmet A., Ytterberg, Steven R., Cobankara, Veli, Onat, Ahmet Mesut, Duzgun, Nursen, Bicakcigil, Muge, Yentur, Sibel P., Lally, Lindsay, Manfredi, Angelo A., Baldissera, Elena, Erken, Eren, Yazici, Ayten, Kisacik, Bunyamin, Kasifoglu, Timucin, Dalkilic, Ediz, Cuthbertson, David, Pagnoux, Christian, Sreih, Antoine, Reales, Guillermo, Wallace, Chris, Wren, Jonathan D., Cunninghame-Graham, Deborah S., Vyse, Timothy J., Sun, Ying, Chen, Huiyong, Grayson, Peter C., Tombetti, Enrico, Jiang, Lindi, Mason, Justin C., Merkel, Peter A., Direskeneli, Haner, Sawalha, Amr H., Ortiz-Fernandez, L., Saruhan-Direskeneli, G., Alibaz-Oner, F., Kaymaz-Tahra, S., Coit, P., Kong, X., Kiprianos, A. P., Maughan, R. T., Aydin, S. Z., Aksu, K., Keser, G., Kamali, S., Inanc, M., Springer, J., Akar, S., Onen, F., Akkoc, N., Khalidi, N. A., Koening, C., Karadag, O., Kiraz, S., Forbess, L., Langford, C. A., Mcalear, C. A., Ozbalkan, Z., Yavuz, S., Cetin, G. Y., Alpay-Kanitez, N., Chung, S., Ates, A., Karaaslan, Y., McKinnon-Maksimowicz, K., Monach, P. A., Ozer, H. T. E., Seyahi, E., Fresko, I., Cefle, A., Seo, P., Warrington, K. J., Ozturk, M. A., Ytterberg, S. R., Cobankara, V., Onat, A. M., Duzgun, N., Bicakcigil, M., Yentur, S. P., Lally, L., Manfredi, A. A., Baldissera, E., Erken, E., Yazici, A., Kisacik, B., Kasifoglu, T., Dalkilic, E., Cuthbertson, D., Pagnoux, C., Sreih, A., Reales, G., Wallace, C., Wren, J. D., Cunninghame-Graham, D. S., Vyse, T. J., Sun, Y., Chen, H., Grayson, P. C., Tombetti, E., Jiang, L., Mason, J. C., Merkel, P. A., Direskeneli, H., Sawalha, A. H., Ege Üniversitesi, [Belirlenecek], Imperial College Healthcare NHS Trust- BRC Funding, and İç Hastalıkları

Subjects
Male, 0301 basic medicine, genetic association, PROTEIN, Integrin, Genome-wide association study, Disease, DISEASE, vasculitis, Genetic Risk, ACTIVATION, 0302 clinical medicine, LEFLUNOMIDE, Polymorphism (computer science), CRITERIA, GWAS, skin and connective tissue diseases, 11 Medical and Health Sciences, Genetics (clinical), Genetics & Heredity, Genetics, PSORIASIS, genetic risk scroe, Classification, HLA, Polydom, Female, Vasculitis, Leflunomide, epigenetic, vasculitis genetic association, POLYDOM, Activation, GENETIC RISK, Human leukocyte antigen, Biology, eQTL, Polymorphism, Single Nucleotide, Article, CLASSIFICATION, 03 medical and health sciences, medicine, Psoriasis, Humans, Genetic Predisposition to Disease, cardiovascular diseases, Tıp uygulaması, Genetic association, 030203 arthritis & rheumatology, Protein, [No Keywords], Case-control study, 06 Biological Sciences, Inflammatory Bowel Diseases, medicine.disease, Criteria, Takayasu Arteritis, 030104 developmental biology, [No Keyword], Case-Control Studies, Expression quantitative trait loci, chromatin interaction, INTEGRIN, Genome-Wide Association Study
Abstract

Takayasu arteritis is a rare inflammatory disease of large arteries. We performed a genetic study in Takayasu arteritis comprising 6,670 individuals (1,226 affected individuals) from five different populations. We discovered HLA risk factors and four non-HLA susceptibility loci in VPS8, SVEP1, CFL2, and chr13q21 and reinforced IL12B, PTK2B, and chr21q22 as robust susceptibility loci shared across ancestries. Functional analysis proposed plausible underlying disease mechanisms and pinpointed ETS2 as a potential causal gene for chr21q22 association. We also identified >60 candidate loci with suggestive association (p < 5 x 10(-s)) and devised a genetic risk score for Takayasu arteritis. Takayasu arteritis was compared to hundreds of other traits, revealing the closest genetic relatedness to inflammatory bowel disease. Epigenetic patterns within risk loci suggest roles for monocytes and B cells in Takayasu arteritis. This work enhances understanding of the genetic basis and pathophysiology of Takayasu arteritis and provides clues for potential new therapeutic targets., National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Arthritis & Musculoskeletal & Skin Diseases (NIAMS) [R01 AR070148]; National Institute of Arthritis and Musculoskeletal and Skin DiseasesUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Arthritis & Musculoskeletal & Skin Diseases (NIAMS) [U54 AR057319, U01 AR51874 04]; National Center for Research ResourcesUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Center for Research Resources (NCRR) [U54 RR019497]; Office of Rare Diseases Research of the National Center for Advancing Translational Sciences; Imperial College, National Institute for Health Research, Biomedical Research Centre; Wellcome TrustWellcome TrustEuropean Commission [WT107881]; Medical Research CouncilUK Research & Innovation (UKRI)Medical Research Council UK (MRC)European Commission [MC_UU_00002/4], This work was supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health grant R01 AR070148 to A.H.S. The Vasculitis Clinical Research Consortium has received support from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (U54 AR057319 and U01 AR51874 04), the National Center for Research Resources (U54 RR019497), and the Office of Rare Diseases Research of the National Center for Advancing Translational Sciences. J.C.M., A.P.K., and R.M.M. acknowledge support from the Imperial College, National Institute for Health Research, Biomedical Research Centre. C.W. and G.R. acknowledge support from The Wellcome Trust (WT107881) and the Medical Research Council (MC_UU_00002/4). This work was supported by the use of study data downloaded from the dbGaP website, under dbGaP: phs000272.v1.p1, phs000431.v2.p1, phs000583.v1.p1, and phs000444.v1.p1.

Published
2021
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5. Identification Of Multiple Genetic Susceptibility Loci In Takayasu Arteritis

Author

Izzet Fresko, Sibel P. Yentür, Paul A. Monach, Gary S. Hoffman, Aşkın Ateş, Murat Inanc, Zeynep Ozbalkan, Sedat Kiraz, Kenneth J. Warrington, Veli Cobankara, Muge Bicakcigil, Ercan Tunc, Joel M. Guthridge, Sibel Zehra Aydin, Yaşar Karaaslan, Amr H. Sawalha, Patrick Coit, Nader Khalidi, Kenan Aksu, Steven R. Ytterberg, Nurşen Düzgün, Huseyin T. E. Ozer, Philip Seo, Servet Akar, Emire Seyahi, Ayse Cefle, Carol A. Langford, Gökhan Keser, Curry L. Koening, Carol A. McAlear, A. Mesut Onat, Travis K. Hughes, Kathleen Maksimowicz-McKinnon, Simon Carette, Mehmet Akif Ozturk, Fatos Onen, Omer Karadag, Fatma Alibaz-Oner, Nurullah Akkoc, Güher Saruhan-Direskeneli, Peter A. Merkel, Haner Direskeneli, Judith A. James, Sevil Kamali, İç Hastalıkları, Saruhan-Direskeneli, Guher, Hughes, Travis, Aksu, Kenan, Keser, Gokhan, Coit, Patrick, Aydin, Sibel Z., Alibaz-Oner, Fatma, Kamali, 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, Huseyin 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, Nursen, Bicakcigil, Muge, Yentur, Sibel P., Merkel, Peter A., Direskeneli, Haner, Sawalha, Amr H., Çukurova Üniversitesi, Hitit Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Saruhan-Direskeneli, G., Hughes, T., Aksu, K., Keser, G., Coit, P., Aydin, S.Z., Sawalha, A.H., Yeditepe Üniversitesi, and Ege Üniversitesi

Subjects
Male, haplotype, HLA DRB1 antigen, genetic association, Genotyping Techniques, Turkey, genotype, Disease, genetic risk, DISEASE, 0302 clinical medicine, genetic variability, HLA-DQ beta-Chains, Genetics(clinical), skin and connective tissue diseases, Genetics (clinical), POPULATION, Genetics, Genetics & Heredity, 0303 health sciences, messenger RNA, Interleukin-12 Subunit p40, [Belirlenecek], HLA DQB1 antigen, allele, aorta arch syndrome, article, 3. Good health, priority journal, ULCERATIVE-COLITIS, Female, MYCOBACTERIUM-TUBERCULOSIS, HLA system, Risk, gene locus, Human leukocyte antigen, Biology, 03 medical and health sciences, GIANT-CELL ARTERITIS, Report, HLA-B Antigens, Genetic predisposition, heterozygosity, Humans, Genetic Predisposition to Disease, cardiovascular diseases, HLA ALLELES, Allele, GENOME-WIDE ASSOCIATION, chromosome 1, Genotyping, 030304 developmental biology, Genetic association, 030203 arthritis & rheumatology, HLA B antigen, Histocompatibility Antigens Class I, Receptors, IgG, Takayasu Arteritis, Genetic Loci, Immunology, Mutation, North America, gene expression, VISUALIZATION, HAPLOTYPES, genetic susceptibility, HLA-DRB1 Chains
Abstract

WOS: 000323186200009, PubMed ID: 23830517, 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 similar to 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 (r(2) < 0.2): HLA-B/MICA (rs12524487, OR = 3.29, p = 5.57 x 10(-16)) and HLA-DQB1/HLA-DRB1 (rs113452171, OR = 2.34, p = 3.74 x 10(-9); and rs189754752, OR = 2.47, p = 4.22 x 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 x 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 x 10(-8))., University of MichiganUniversity of Michigan System; Vasculitis Foundation; National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [GM103510, AR053483, AI08714, AI101914]; National Institute of Arthritis and Musculoskeletal and Skin DiseasesUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Arthritis & Musculoskeletal & Skin Diseases (NIAMS) [U54AR057319, U01 AR51874 04]; National Center for Research ResourcesUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Center for Research Resources (NCRR) [U54 RR019497]; Office of Rare Diseases Research of the National Center for Advancing Translational Sciences, This work was supported by funding from the University of Michigan and the Vasculitis Foundation. Procurement and genotyping of the European-American control samples was supported by the National Institutes of Health grants GM103510, AR053483, AI08714, and AI101914. The Vasculitis Clinical Research Consortium has received support from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (U54AR057319 and U01 AR51874 04), the National Center for Research Resources (U54 RR019497), and the Office of Rare Diseases Research of the National Center for Advancing Translational Sciences.

Published
2013

6. Takayasu's arteritis is associated with HLA-B*52, but not with HLA-B*51, in Turkey

Author

Zeynep Ozbalkan, Yaşar Karaaslan, Izzet Fresko, Nurşen Düzgün, Muge Bicakcigil, Omer Karadag, Nurullah Akkoc, Fatos Onen, Aşkın Ateş, Güher Saruhan-Direskeneli, Veli Cobankara, A. Mesut Onat, Mehmet Akif Ozturk, Gökhan Keser, Neslihan Yilmaz, Emire Seyahi, Haner Direskeneli, Murat Inanc, Sevil Kamali, Ayse Cefle, F. Aytül Uyar, Vuslat Yilmaz, Ziver Sahin, Ercan Tunc, Sibel Zehra Aydin, Servet Akar, Sedat Kiraz, Kenan Aksu, Huseyin T. E. Ozer, Ege Üniversitesi, Çukurova Üniversitesi, Sahin, Ziver, Bicakcigil, Muge, Aksu, Kenan, Kamali, Sevil, Akar, Servet, Onen, Fatos, Karadag, Omer, Ozbalkan, Zeynep, Ates, Askin, Ozer, Huseyin T. E., Yilmaz, Vuslat, Seyahi, Emire, Ozturk, Mehmet A., Cefle, Ayse, Cobankara, Veli, Onat, A. Mesut, Tunc, Ercan, Duzgun, Nursen, Aydin, Sibel Z., Yilmaz, Neslihan, Fresko, Izzet, Karaaslan, Yasar, Kiraz, Sedat, Akkoc, Nurullah, Inanc, Murat, Keser, Gokhan, Uyar, F. Aytul, Direskeneli, Haner, Saruhan-Direskeneli, Guher, Sahin, Z., Bicakcigil, M., Aksu, K., Kamali, S., Akar, S., Onen, F., Saruhan-Direskeneli, G., and Yeditepe Üniversitesi

Subjects
Male, Turkey, polymerase chain reaction, Takayasu's arteritis, CLINICAL-MANIFESTATIONS, SUSCEPTIBILITY, HLA B52 antigen, Gastroenterology, Turkey (republic), Pathogenesis, chi square distribution, middle aged, Odds Ratio, Immunology and Allergy, genetics, risk, BEHCETS-DISEASE, aorta arch syndrome, article, genetic screening, HLA-B, female, HLA-B51 Antigen, disease severity, Research Article, Adult, medicine.medical_specialty, GENE POLYMORPHISM, Genotype, HLA B51 antigen, Immunology, DNA determination, Human leukocyte antigen, gene sequence, gene frequency, CLASSIFICATION, ANTIGENS, Rheumatology, GIANT-CELL ARTERITIS, Internal medicine, medicine, Humans, controlled study, Genetic Predisposition to Disease, Arteritis, human, Chi-Square Distribution, business.industry, disease association, Case-control study, Odds ratio, DNA, case control study, medicine.disease, major clinical study, Takayasu Arteritis, MHC CLASS-I, Giant cell arteritis, HLA-B ALLELES, multicenter study, age, Case-Control Studies, business, HLA-B52 Antigen, genetic predisposition, AORTIC TISSUE, genetic susceptibility
Abstract

WOS: 000304698800041, PubMed ID: 22309845, Introduction: HLA-B*51 and HLA-B*52 are two close human leukocyte antigen (HLA) allele groups with minor amino acid differences. However, they are associated with two different vasculitides (HLA-B*51 in Beh et's disease and HLA-B*52 in Takayasu's arteritis (TAK)) and with major clinical and immunological differences. In this study, we aimed to screen a large cohort of TAK patients from Turkey for the presence of HLA-B*51 and HLA-B* 52 as susceptibility and severity factors. Methods: TAK patients (n = 330) followed at a total of 15 centers were included in the study. The mean age of the patients was 37.8 years, and 86% were women. DNA samples from the patients and healthy controls (HC; n = 210) were isolated, and the presence of HLA-B* 51 or HLA-B* 52 was screened for by using PCR with sequence-specific primers. Results: We found a significant association of HLA-B* 52 with TAK (20.9% vs HC = 6.7%, P = 0.000, OR = 3.7, 95% CI = 2.02 to 6.77). The distribution of HLA-B* 51 did not differ between TAK patients and HCs (22.7% vs 24.8%, OR = 0.9, 95% CI = 0.60 to 1.34). The presence of HLA-B* 52 decreased in late-onset patients (> 40 years of age; 12.0%, P = 0.024, OR = 0.43, 95% CI = 0.20 to 0.91). Patients with angiographic type I disease with limited aortic involvement also had a lower presence of HLA-B* 52 compared to those with all other disease subtypes (13.1% vs 26%, P = 0.005, OR = 0.43, 95% CI = 0.23 to 0.78). Conclusions: In this study, the previously reported association of TAK with HLA-B* 52 in other populations was confirmed in patients from Turkey. The functional relevance of HLA-B* 52 in TAK pathogenesis needs to be explored further., Istanbul (BAP); Marmara University (BAPKO)Marmara University, This study is funded by Istanbul (BAP) and Marmara University (BAPKO) Research Funds. The authors thank G Mumcu for her assistance with statistical analysis.

Published
2012

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