Epidemiology and genetics of large-vessel vasculitides. Report 1. Epidemiological and molecular genetic aspects of Takayasu arteritis
I. A. Guseva,
A. M. Bolotbekova,
O. N. Egorova,
G. M. Tarasova,
G. M. Koylubaeva,
M. D. Chanyshev,
E. Yu. Samarkina https://doi.org/10.14412/1996-7012-2025-5-7-12
Abstract
Takayasu arteritis (TA) is a rare systemic disease characterized by granulomatous inflammation affecting large arteries, primarily the aorta and its branches. First described in Japan, where the disease has a high prevalence, TA was subsequently reported, though less frequently, in other ethnic groups. Rare cases of familial aggregation suggest the involvement of genetic factors in the pathogenesis of TA. During nearly 45 years of genetic research on TA, a strong association has been established with the HLA-B5(52) antigen/HLA-B*5201 allele, as well as with other HLA and non-HLA molecular genetic markers.
Supporting agencies: The article was prepared within the framework of the research project (State Assignment of the Russian Federation № PK-122040400024-7) and international cooperation between the V.A. Nasonova Research Institute of Rheumatology (Russia) and the National Center of Cardiology and Therapy named after academician Mirsaid Mirrahimov, Ministry of Health of the Kyrgyz Republic (Kyrgyzstan).
About the Authors
I. A. Guseva
V.A. Nasonova Research Institute of Rheumatology
Russian Federation
Russian Federation
Irina Anatolyevna Guseva
34A, Kashirskoe Shosse, Moscow 115522
A. M. Bolotbekova
National Center of Cardiology and Therapy named after academician Mirsaid Mirrahimov, Ministry of Health of Kyrgyz Republic
Kyrgyzstan
Kyrgyzstan
3, Togolok Moldo Street, Bishkek 720040
O. N. Egorova
V.A. Nasonova Research Institute of Rheumatology ; M.V. Vladimirsky Moscow Regional Research Clinical Institute
Russian Federation
Russian Federation
34A, Kashirskoe Shosse, Moscow 115522
61/2, Schepkina Street, Moscow 129110
G. M. Tarasova
V.A. Nasonova Research Institute of Rheumatology
Russian Federation
Russian Federation
34A, Kashirskoe Shosse, Moscow 115522
G. M. Koylubaeva
National Center of Cardiology and Therapy named after academician Mirsaid Mirrahimov, Ministry of Health of Kyrgyz Republic
Kyrgyzstan
Kyrgyzstan
3, Togolok Moldo Street, Bishkek 720040
M. D. Chanyshev
Central Research Institute of Epidemiology
Russian Federation
Russian Federation
3A, Novogireevskaya Street, Moscow 111123
E. Yu. Samarkina
V.A. Nasonova Research Institute of Rheumatology
Russian Federation
Russian Federation
34A, Kashirskoe Shosse, Moscow 115522
References
1. Jennette JC, Falk RJ, Bacon PA, et al. 2012 revised International Chapel Hill Consensus Conference Nomenclature of Vasculitides. Arthritis Rheum. 2013 Jan;65(1):1-11. doi: 10.1002/art.37715.
2. Harky A, Fok M, Balmforth D, Bashir M. Pathogenesis of large vessel vasculitis: Implications for disease classification and future therapies. Vasc Med. 2019 Feb;24(1):79-88. doi: 10.1177/1358863X18802989.
3. Kermani TA. Takayasu arteritis and giant cell arteritis: are they a spectrum of the same disease? Int J Rheum Dis. 2019 Jan:22 Suppl 1:41-48. doi: 10.1111/1756-185X.13288.
4. Stamatis P. Giant Cell Arteritis versus Takayasu Arteritis: An Update. Mediterr J Rheumatol. 2020 Jun 30;31(2):174-182. doi: 10.31138/mjr.31.2.174.
5. Watanabe R, Berry GJ, Liang DH, et al. Pathogenesis of Giant Cell Arteritis and Takayasu Arteritis-Similarities and Differences. Curr Rheumatol Rep. 2020 Aug 26; 22(10):68. doi: 10.1007/s11926-020-00948-x.
6. Mortensen PW, Raviskanthan S, ChevezBarrios P, Lee AG. Giant cell arteritis versus Takayasu's Arteritis: Two sides of the same coin? Saudi J Ophthalmol. 2022 Apr 18;35(3): 198-203. doi: 10.4103/SJOPT.SJOPT_152_21.
7. Arend WP, Michel BA, Bloch DA, et al. The American College of Rheumatology 1990 criteria for the classification of Takayasu arteritis. Arthritis Rheum. 1990 Aug;33(8): 1129-34. doi: 10.1002/art.1780330811.
8. Hunder GG, Bloch DA, Michel BA, et al. The American College of Rheumatology 1990 criteria for the classification of giant cell arteritis. Arthritis Rheum. 1990 Aug;33(8): 1122-8. doi: 10.1002/art.1780330810.
9. Grayson PC, Ponte C, Suppiah R, et al; DCVAS Study Group. 2022 American College of Rheumatology/EULAR classification criteria for Takayasu arteritis. Ann Rheum Dis. 2022 Dec;81(12):1654-1660. doi: 10.1136/ard-2022-223482.
10. Ponte C, Grayson PC, Robson JC, et al; DCVAS Study Group. 2022 American College of Rheumatology/EULAR classification criteria for giant cell arteritis. Ann Rheum Dis. 2022 Dec;81(12):1647-1653. doi: 10.1136/ard-2022-223480.
11. Aggarwal R, Ringold S, Khanna D, et al. Distinctions between diagnostic and classification criteria? Arthritis Care Res (Hoboken). 2015 Jul;67(7):891-7. doi: 10.1002/acr.22583.
12. Ecclestone T, Watts RA. Classification and epidemiology of vasculitis: Emerging concepts. Best Pract Res Clin Rheumatol. 2023 Mar;37(1):101845. doi: 10.1016/j.berh.2023.101845.
13. Numano F. The story of Takayasu arteritis. Rheumatology (Oxford). 2002 Jan;41(1):103-6. doi: 10.1093/rheumatology/41.1.103.
14. Ishikawa K, Maetani S. Long-term outcome for 120 Japanese patients with Takayasu's disease. Clinical and statistical analyses of related prognostic factors. Circulation. 1994 Oct;90(4):1855-60. doi: 10.1161/01.cir.90.4.1855.
15. Gudbrandsson B, Molberg Ø, Garen T, Palm Ø. Prevalence, Incidence, and Disease Characteristics of Takayasu Arteritis by Ethnic Background: Data From a Large, PopulationBased Cohort Resident in Southern Norway. Arthritis Care Res (Hoboken). 2017 Feb;69(2): 278-285. doi: 10.1002/acr.22931.
16. Jiang Z, Lefebvre F, Ross C, et al. Variations in Takayasu arteritis characteristics in a cohort of patients with different racial backgrounds. Semin Arthritis Rheum. 2022 Apr; 53:151971. doi: 10.1016/j.semarthrit.2022.151971.
17. Rutter M, Bowley J, Lanyon PC, et al. A systematic review and meta-analysis of the incidence rate of Takayasu arteritis. Rheumatology (Oxford). 2021 Nov 3;60(11):4982-4990. doi: 10.1093/rheumatology/keab406
18. Gloor AD, Chollet L, Christ LA, et al. Takayasu arteritis: Prevalence and clinical presentation in Switzerland. PLoS One. 2021 Jun 18;16(6):e0250025. doi: 10.1371/journal.pone.0250025.
19. Muratore F, Boiardi L, Mancuso P, et al. Incidence and prevalence of large vessel vasculitis (giant cell arteritis and Takayasu arteritis) in northern Italy: A population-based study. Semin Arthritis Rheum. 2021 Aug;51(4): 786-792. doi: 10.1016/j.semarthrit.2021.06.001.
20. Watts RA, Hatemi G, Burns JC, Mohammad AJ. Global epidemiology of vasculitis. Nat Rev Rheumatol. 2022 Jan;18(1):22-34. doi: 10.1038/s41584-021-00718-8.
21. Ozguler Y, Esatoglu SN, Hatemi G. Epidemiology of systemic vasculitis. Curr Opin Rheumatol. 2024 Jan 1;36(1):21-26. doi: 10.1097/BOR.0000000000000983.
22. Judge RD, Currier RD, Gracie WA, Figley MM. Takayasu's arteritis and the aortic arch syndrome. Am J Med. 1962 Mar;32:379- 92. doi: 10.1016/0002-9343(62)90128-6.
23. Numano F, Isohisa I, Kishi U, et al. Takayasu's disease in twin sisters. Possible genetic factors. Circulation. 1978 Jul;58(1): 173-7. doi: 10.1161/01.cir.58.1.173.
24. Enomoto S, Iwasaki Y, Bannai S, et al. Takayasu's disease in twin sisters. Jpn Heart J. 1984;25:147-52. doi: 10.1536/ihj.25.147.
25. Naito S, Arakawa K, Takeshita A, et al. HLA-B5 – Association with Takayasus disease. Tissue Antigens. 1977;10:220-30.
26. Isohisa I, Numano F, Maezawa H, Sasazuki T. HLA-Bw52 in Takayasu disease. Tissue Antigens. 1978;12(4):246-8. doi: 10.1111/j.1399-0039.1978.tb01332.x.
27. Naito S, Arakawa K, Saito S, et al. Takayasu's disease: association with HLA-B5. Tissue Antigens 1978;12(2):143-5. doi: 10.1111/j.1399-0039.1978.tb01310.x.
28. Mehra NK, Jaini R, Balamurugan A. et al. Immunogenetic analysis of Takayasu arteritis in Indian patients. Int J Cardiol. 1998 Oct 1;66 Suppl 1:S127-32.
29. Sahin Z, B cakc gil M, Aksu K, et al. Takayasu's arteritis is associated with HLA-B*52, but not with HLA-B*51, in Turkey. Arthritis Res Ther. 2012 Feb 6;14(1): R27. doi: 10.1186/ar3730.
30. Vargas-Alarcon G, Flores-Dominguez C, Hernandez-Pacheco G, et al. Immunogenetics and clinical aspects of Takayasu's arteritis patients in a Mexican Mestizo population. Clin Exp Rheumatol. 2001 Jul-Aug;19(4): 439-43.
31. Yajima M, Numano F, Park YB, Sagar S. Comparative studies of patients with Takayasu arteritis in Japan, Korea and India – comparison of clinical manifestations, angiography and HLA-B antigen. Jpn Circ J. 1994 Jan; 58(1):9-14. doi: 10.1253/jcj.58.9.
32. Saruhan-Direskeneli G, Hughes T, Aksu K, et al. Identification of multiple genetic susceptibility loci in Takayasu arteritis. Am J Hum Genet. 2013 Aug 8;93(2):298-305. doi: 10.1016/j.ajhg.2013.05.026.
33. Terao C, Yoshifuji H, Kimura A, et al. 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. 2013 Aug 8;93(2):289-97. doi: 10.1016/j.ajhg.2013.05.024.
34. Renauer PA, Saruhan-Direskeneli G, Coit P, et al. Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study. Arthritis Rheumatol. 2015 May; 67(5):1361-8. doi: 10.1002/art.39035.
35. Terao C, Yoshifuji H, Matsumura T, et al. Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis. Proc Natl Acad Sci U S A. 2018 Dec 18;115(51):13045- 13050. doi: 10.1073/pnas.1808850115.
36. Ortiz-Fernandez L, Saruhan-Direskeneli G, Alibaz-Oner F, et al. Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study. Am J Hum Genet. 2021 Jan 7;108(1):84-99. doi: 10.1016/j.ajhg.2020.11.014.
37. Terao C. Revisited HLA and non-HLA genetics of Takayasu arteritis – where are we? J Hum Genet. 2016 Jan;61(1):27-32. doi: 10.1038/jhg.2015.87.
38. Renauer P, Sawalha AH. The genetics of Takayasu arteritis. Presse Med. 2017 Jul-Aug; 46(7-8 Pt 2):e179-e187. doi: 10.1016/j.lpm.2016.11.031.
39. Saruhan-Direskeneli G, Bicakcigil M, Yilmaz V, et al. Interleukin (IL)-12, IL-2, and IL-6 gene polymorphisms in Takayasu's arteritis from Turkey. Hum Immunol. 2006 Sep; 67(9):735-40. doi: 10.1016/j.humimm.2006.06.003.
40. Chen S, Luan H, Li L, et al. Relationship of HLA-B*51 and HLA-B*52 alleles and TNF-α-308A/G polymorphism with susceptibility to Takayasu arteritis: a meta-analysis. Clin Rheumatol. 2017 Jan;36(1):173-181. doi: 10.1007/s10067-016-3445-0.
41. Wen D, Zhou XL, Du X, et al. Association of interleukin-18 gene polymorphisms with Takayasu arteritis in a Chinese Han population. Chin Med J (Engl). 2020 Oct 5;133(19): 2315-2320. doi: 10.1097/CM9.0000000000001047.
42. Danda D, Goel R, Kabeerdoss J, et al. Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort. J Hum Genet. 2024 Jan;69(1):13-18. doi: 10.1038/s10038-023-01198-2.
43. Kong X, Sawalha AH. Takayasu arteritis risk locus in IL6 represses the anti-inflammatory gene GPNMB through chromatin looping and recruiting MEF2-HDAC complex. Ann Rheum Dis. 2019 Oct;78(10):1388-1397. doi: 10.1136/annrheumdis-2019-215567.
44. Egorova ON, Tarasova GM, Koylubaeva GM, et al. Modern approaches to the treatment of Takayasu arteritis. Sovremennaya Revmatologiya = Modern Rheumatology Journal. 2024;18(1):101-108. (In Russ.). doi: 10.14412/1996-7012-2024-1-101-108.
45. Casares-Marfil D, Sawalha AH. Functional and Practical Insights Into the Genetic Basis of Takayasu Arteritis. ACR Open Rheumatol. 2025 Jan;7(1):e11766. doi: 10.1002/acr2.11766
Review
For citations:
Guseva IA, Bolotbekova AM, Egorova ON, Tarasova GM, Koylubaeva GM, Chanyshev MD, Samarkina EY. Epidemiology and genetics of large-vessel vasculitides. Report 1. Epidemiological and molecular genetic aspects of Takayasu arteritis. Sovremennaya Revmatologiya=Modern Rheumatology Journal. 2025;19(5):7-12. (In Russ.) https://doi.org/10.14412/1996-7012-2025-5-7-12
Views:
159
Email this article 