Skip to main content
Erschienen in: Heart and Vessels 6/2016

18.03.2015 | Short Communication

A novel susceptibility locus for Takayasu arteritis in the IL12B region can be a genetic marker of disease severity

verfasst von: Takayoshi Matsumura, Eisuke Amiya, Natsuko Tamura, Yasuhiro Maejima, Issei Komuro, Mitsuaki Isobe

Erschienen in: Heart and Vessels | Ausgabe 6/2016

Einloggen, um Zugang zu erhalten

Abstract

Takayasu arteritis (TAK) is an acute and chronic vasculitis of unknown etiology. Recently, our group reported that SNP rs6871626 in the IL12B region had significant association with disease susceptibility to TAK. However, association of the SNP with clinical characteristics of TAK has yet to be determined. Therefore, we assessed whether this SNP was associated with TAK disease severity as represented by early onset and/or refractoriness to medical therapy. A total of 90 patients were genotyped for rs6871626 and their clinical charts were reviewed retrospectively. By examining the relationship between genotype and clinical profiles of patients, we found a strong association between the number of risk alleles and the frequency of severe cases as defined by (1) age at onset <20 years old, (2) steroid resistance, and/or (3) a relapse of disease [p = 0.03; odds ratio 3.75 (95 % confidence interval 1.13–13.5)]. Thus, our study points to potential diagnostic use of SNP rs6871626 for predicting disease severity of TAK, with the goal of genotyping-oriented therapy in the near future.
Literatur
1.
Zurück zum Zitat Isobe M (2013) Takayasu arteritis revisited: current diagnosis and treatment. Int J Cardiol 168:3–10CrossRefPubMed Isobe M (2013) Takayasu arteritis revisited: current diagnosis and treatment. Int J Cardiol 168:3–10CrossRefPubMed
2.
Zurück zum Zitat Numano F, Okawara M, Inomata H, Kobayashi Y (2000) Takayasu’s arteritis. Lancet 356:1023–1025CrossRefPubMed Numano F, Okawara M, Inomata H, Kobayashi Y (2000) Takayasu’s arteritis. Lancet 356:1023–1025CrossRefPubMed
3.
Zurück zum Zitat Takamura C, Ohhigashi H, Ebana Y, Isobe M (2012) New human leukocyte antigen risk allele in Japanese patients with Takayasu arteritis. Circ J 76:1697–1702CrossRefPubMed Takamura C, Ohhigashi H, Ebana Y, Isobe M (2012) New human leukocyte antigen risk allele in Japanese patients with Takayasu arteritis. Circ J 76:1697–1702CrossRefPubMed
4.
Zurück zum Zitat Terao C, Yoshifuji H, Kimura A, Matsumura T, Ohmura K, Takahashi M, Shimizu M, Kawaguchi T, Chen Z, Naruse TK, Sato-Otsubo A, Ebana Y, Maejima Y, Kinoshita H, Murakami K, Kawabata D, Wada Y, Narita I, Tazaki J, Kawaguchi Y, Yamanaka H, Yurugi K, Miura Y, Maekawa T, Ogawa S, Komuro I, Nagai R, Yamada R, Tabara Y, Isobe M, Mimori T, Matsuda F (2013) Two susceptibility loci to Takayasu arteritis reveal a synergistic role of the IL12B and HLA-B regions in a Japanese population. Am J Hum Genet 93:289–297CrossRefPubMedPubMedCentral Terao C, Yoshifuji H, Kimura A, Matsumura T, Ohmura K, Takahashi M, Shimizu M, Kawaguchi T, Chen Z, Naruse TK, Sato-Otsubo A, Ebana Y, Maejima Y, Kinoshita H, Murakami K, Kawabata D, Wada Y, Narita I, Tazaki J, Kawaguchi Y, Yamanaka H, Yurugi K, Miura Y, Maekawa T, Ogawa S, Komuro I, Nagai R, Yamada R, Tabara Y, Isobe M, Mimori T, Matsuda F (2013) Two susceptibility loci to Takayasu arteritis reveal a synergistic role of the IL12B and HLA-B regions in a Japanese population. Am J Hum Genet 93:289–297CrossRefPubMedPubMedCentral
5.
Zurück zum Zitat Saruhan-Direskeneli G, Hughes T, Aksu K, Keser G, Coit P, Aydin SZ, Alibaz-Oner F, Kamali S, Inanc M, Carette S, Hoffman GS, Akar S, Onen F, Akkoc N, Khalidi NA, Koening C, Karadag O, Kiraz S, Langford CA, McAlear CA, Ozbalkan Z, Ates A, Karaaslan Y, Maksimowicz-McKinnon K, Monach PA, Ozer HT, Seyahi E, Fresko I, Cefle A, Seo P, Warrington KJ, Ozturk MA, Ytterberg SR, Cobankara V, Onat AM, Guthridge JM, James JA, Tunc E, Duzgun N, Bicakcigil M, Yentur SP, Merkel PA, Direskeneli H, Sawalha AH (2013) Identification of multiple genetic susceptibility loci in Takayasu arteritis. Am J Hum Genet 93:298–305CrossRefPubMedPubMedCentral Saruhan-Direskeneli G, Hughes T, Aksu K, Keser G, Coit P, Aydin SZ, Alibaz-Oner F, Kamali S, Inanc M, Carette S, Hoffman GS, Akar S, Onen F, Akkoc N, Khalidi NA, Koening C, Karadag O, Kiraz S, Langford CA, McAlear CA, Ozbalkan Z, Ates A, Karaaslan Y, Maksimowicz-McKinnon K, Monach PA, Ozer HT, Seyahi E, Fresko I, Cefle A, Seo P, Warrington KJ, Ozturk MA, Ytterberg SR, Cobankara V, Onat AM, Guthridge JM, James JA, Tunc E, Duzgun N, Bicakcigil M, Yentur SP, Merkel PA, Direskeneli H, Sawalha AH (2013) Identification of multiple genetic susceptibility loci in Takayasu arteritis. Am J Hum Genet 93:298–305CrossRefPubMedPubMedCentral
6.
Zurück zum Zitat Goriely S, Neurath MF, Goldman M (2008) How microorganisms tip the balance between interleukin-12 family members. Nat Rev Immunol 8:81–86CrossRefPubMed Goriely S, Neurath MF, Goldman M (2008) How microorganisms tip the balance between interleukin-12 family members. Nat Rev Immunol 8:81–86CrossRefPubMed
7.
Zurück zum Zitat Arend WP, Michel BA, Bloch DA, Hunder GG, Calabrese LH, Edworthy SM, Fauci AS, Leavitt RY, Lie JT, Lightfoot RW Jr, Masi AT, McShane DJ, Mills JA, Stevens MB, Wallace SL, Zvaifler NJ (1990) The American College of Rheumatology 1990 criteria for the classification of Takayasu arteritis. Arthritis Rheum 33:1129–1134CrossRefPubMed Arend WP, Michel BA, Bloch DA, Hunder GG, Calabrese LH, Edworthy SM, Fauci AS, Leavitt RY, Lie JT, Lightfoot RW Jr, Masi AT, McShane DJ, Mills JA, Stevens MB, Wallace SL, Zvaifler NJ (1990) The American College of Rheumatology 1990 criteria for the classification of Takayasu arteritis. Arthritis Rheum 33:1129–1134CrossRefPubMed
8.
Zurück zum Zitat JCS Joint Working Group (2011) Guideline for management of vasculitis syndrome (JCS 2008). Jpn Circ Soc Circ J 75:474–503 JCS Joint Working Group (2011) Guideline for management of vasculitis syndrome (JCS 2008). Jpn Circ Soc Circ J 75:474–503
9.
Zurück zum Zitat Ishihara T, Haraguchi G, Kamiishi T, Tezuka D, Inagaki H, Isobe M (2011) Sensitive assessment of activity of Takayasu’s arteritis by pentraxin3, a new biomarker. J Am Coll Cardiol 57:1712–1713CrossRefPubMed Ishihara T, Haraguchi G, Kamiishi T, Tezuka D, Inagaki H, Isobe M (2011) Sensitive assessment of activity of Takayasu’s arteritis by pentraxin3, a new biomarker. J Am Coll Cardiol 57:1712–1713CrossRefPubMed
10.
Zurück zum Zitat Jales-Neto LH, Levy-Neto M, Bonfa E, de Carvalho JF, Pereira RM (2010) Juvenile-onset Takayasu arteritis: peculiar vascular involvement and more refractory disease. Scand J Rheumatol 39:506–510CrossRefPubMed Jales-Neto LH, Levy-Neto M, Bonfa E, de Carvalho JF, Pereira RM (2010) Juvenile-onset Takayasu arteritis: peculiar vascular involvement and more refractory disease. Scand J Rheumatol 39:506–510CrossRefPubMed
11.
Zurück zum Zitat Ohigashi H, Haraguchi G, Konishi M, Tezuka D, Kamiishi T, Ishihara T, Isobe M (2012) Improved prognosis of Takayasu arteritis over the past decade–comprehensive analysis of 106 patients. Circ J 76:1004–1011CrossRefPubMed Ohigashi H, Haraguchi G, Konishi M, Tezuka D, Kamiishi T, Ishihara T, Isobe M (2012) Improved prognosis of Takayasu arteritis over the past decade–comprehensive analysis of 106 patients. Circ J 76:1004–1011CrossRefPubMed
12.
Zurück zum Zitat Funada A, Kanzaki H, Nagano N, Sugano Y, Ohara T, Hasegawa T, Ishibashi-Ueda H, Kitakaze M, Anzai T (2014) Late aneurysm formation of Valsalva sinus after aortic valve replacement due to Takayasu’s arteritis. Heart Vessels. doi:10.1007/s00380-014-0501-z Funada A, Kanzaki H, Nagano N, Sugano Y, Ohara T, Hasegawa T, Ishibashi-Ueda H, Kitakaze M, Anzai T (2014) Late aneurysm formation of Valsalva sinus after aortic valve replacement due to Takayasu’s arteritis. Heart Vessels. doi:10.​1007/​s00380-014-0501-z
13.
Zurück zum Zitat Fujita K, Nakashima K, Kanai H, Kumakura H, Minami K (2013) A successful surgical repair of pulmonary stenosis caused by isolated pulmonary Takayasu’s arteritis. Heart Vessels 28:264–267CrossRefPubMed Fujita K, Nakashima K, Kanai H, Kumakura H, Minami K (2013) A successful surgical repair of pulmonary stenosis caused by isolated pulmonary Takayasu’s arteritis. Heart Vessels 28:264–267CrossRefPubMed
14.
Zurück zum Zitat Cho JH (2008) The genetics and immunopathogenesis of inflammatory bowel disease. Nat Rev Immunol 8:458–466CrossRefPubMed Cho JH (2008) The genetics and immunopathogenesis of inflammatory bowel disease. Nat Rev Immunol 8:458–466CrossRefPubMed
15.
Zurück zum Zitat Ellinghaus D, Ellinghaus E, Nair RP, Stuart PE, Esko T, Metspalu A, Debrus S, Raelson JV, Tejasvi T, Belouchi M, West SL, Barker JN, Koks S, Kingo K, Balschun T, Palmieri O, Annese V, Gieger C, Wichmann HE, Kabesch M, Trembath RC, Mathew CG, Abecasis GR, Weidinger S, Nikolaus S, Schreiber S, Elder JT, Weichenthal M, Nothnagel M, Franke A (2012) Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci. Am J Hum Genet 90:636–647CrossRefPubMedPubMedCentral Ellinghaus D, Ellinghaus E, Nair RP, Stuart PE, Esko T, Metspalu A, Debrus S, Raelson JV, Tejasvi T, Belouchi M, West SL, Barker JN, Koks S, Kingo K, Balschun T, Palmieri O, Annese V, Gieger C, Wichmann HE, Kabesch M, Trembath RC, Mathew CG, Abecasis GR, Weidinger S, Nikolaus S, Schreiber S, Elder JT, Weichenthal M, Nothnagel M, Franke A (2012) Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci. Am J Hum Genet 90:636–647CrossRefPubMedPubMedCentral
16.
Zurück zum Zitat Johnston A, Xing X, Swindell WR, Kochkodan J, Riblett M, Nair RP, Stuart PE, Ding J, Voorhees JJ, Elder JT, Gudjonsson JE (2013) Susceptibility-associated genetic variation at IL12B enhances Th1 polarization in psoriasis. Hum Mol Genet 22:1807–1815CrossRefPubMedPubMedCentral Johnston A, Xing X, Swindell WR, Kochkodan J, Riblett M, Nair RP, Stuart PE, Ding J, Voorhees JJ, Elder JT, Gudjonsson JE (2013) Susceptibility-associated genetic variation at IL12B enhances Th1 polarization in psoriasis. Hum Mol Genet 22:1807–1815CrossRefPubMedPubMedCentral
17.
Zurück zum Zitat Nelson AL, Dhimolea E, Reichert JM (2010) Development trends for human monoclonal antibody therapeutics. Nat Rev Drug Discov 9:767–774CrossRefPubMed Nelson AL, Dhimolea E, Reichert JM (2010) Development trends for human monoclonal antibody therapeutics. Nat Rev Drug Discov 9:767–774CrossRefPubMed
18.
Zurück zum Zitat Lisnevskaia L, Murphy G, Isenberg D (2014) Systemic lupus erythematosus. Lancet 384:1878–1888CrossRefPubMed Lisnevskaia L, Murphy G, Isenberg D (2014) Systemic lupus erythematosus. Lancet 384:1878–1888CrossRefPubMed
19.
Zurück zum Zitat Ishikawa K, Maetani S (1994) Long-term outcome for 120 Japanese patients with Takayasu’s disease. Clinical and statistical analyses of related prognostic factors. Circulation 90:1855–1860CrossRefPubMed Ishikawa K, Maetani S (1994) Long-term outcome for 120 Japanese patients with Takayasu’s disease. Clinical and statistical analyses of related prognostic factors. Circulation 90:1855–1860CrossRefPubMed
Metadaten
Titel
A novel susceptibility locus for Takayasu arteritis in the IL12B region can be a genetic marker of disease severity
verfasst von
Takayoshi Matsumura
Eisuke Amiya
Natsuko Tamura
Yasuhiro Maejima
Issei Komuro
Mitsuaki Isobe
Publikationsdatum
18.03.2015
Verlag
Springer Japan
Erschienen in
Heart and Vessels / Ausgabe 6/2016
Print ISSN: 0910-8327
Elektronische ISSN: 1615-2573
DOI
https://doi.org/10.1007/s00380-015-0661-5

Weitere Artikel der Ausgabe 6/2016

Heart and Vessels 6/2016 Zur Ausgabe

Update Kardiologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.