Research progress of susceptibility genes in rheumatic heart disease

Abstract

Abstract: Rheumatic heart disease (RHD) is an autoimmune disease that results from valvular autoimmune response to group A streptococcal infection leading to severe valvular damage. About 30% to 45% of the rhemutic fever (RF) patients develop into RHD,suggestincg that genetic susceptibility playes important roles in the RHD development.An understanding of the mechanisms underlying host susceptibility can provide important insights into pathogenesis that in turn can inform new treatments.The development of the human genome provides conditions for the studies of RHD genetic susceptibility. There are some susceptibility genes have been found to be related to RHD, including human leukocyte antigen (HLA) and tumor necrosis factor (TNF),many of these genes are associated with the immune response and inflammatory process. This review summarizes the recent study of these related gene polymorphisms.

Key words: Rheumatic heart disease, Genetic predisposition, Gene polymorphism

CLC Number:

R541.2

ZHANG Tao, WEN Chun-jie, SHEN Dong-ya, ZHOU Hong-hao. Research progress of susceptibility genes in rheumatic heart disease[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2013, 18(10): 1186-1191.

References

[1] Marijon E, Mirabel M, Celermajer DS, et al. Rheumatic heart disease[J]. Lancet,2012,379(9819):953-964.
[2] Carapetis JR, Steer AC, Mulholland EK, et al. The global burden of group A streptococcal diseases[J]. Lancet Infect Dis,2005,5(11):685-694.
[3] Guilherme L, Kohler KF, Postol E, et al. Genes, autoimmunity and pathogenesis of rheumatic heart disease[J]. Ann Pediatr Cardiol,2011,4(1):13-21.
[4] Bryant PA, Robins-Browne R, Carapetis JR, et al. Some of the people, some of the time: susceptibility to acute rheumatic fever[J]. Circulation,2009,119(5):742-753.
[5] Stanevicha V, Eglite J, Sochnevs A, et al. HLA class II associations with rheumatic heart disease among clinically homogeneous patients in children in Latvia[J]. Arthritis Res Ther,2003,5(6):R340-R346.
[6] Guedez Y, Kotby A, El-Demellawy M, et al. HLA class II associations with rheumatic heart disease are more evident and consistent among clinically homogeneous patients[J]. Circulation,1999,99(21):2784-2790..
[7] Chou HT, Chen CH, Chen JY, et al. Association of HLA DRB1-DQA1-DQB1 haplotypes with rheumatic heart disease in Taiwan[J]. Int J Cardiol,2008,128(3):434-435.
[8] Messias RI, Schafranski MD, Jensenius JC, et al. The association between mannose-binding lectin gene polymorphism and rheumatic heart disease[J]. Hum Immunol,2006,67(12):991-998.
[9] Ramasawmy R, Spina GS, Fae KC, et al. Association of mannose-binding lectin gene polymorphism but not of mannose-binding serine protease 2 with chronic severe aortic regurgitation of rheumatic etiology[J]. Clin Vaccine Immunol,2008,15(6):932-936.
[10] Hummelshoj T, Munthe-Fog L, Madsen HO, et al. Polymorphisms in the FCN2 gene determine serum variation and function of Ficolin-2[J]. Hum Mol Genet,2005,14(12):1651-1658.
[11] Meijvis SC, Herpers BL, Endeman H, et al. Mannose-binding lectin (MBL2) and ficolin-2 (FCN2) polymorphisms in patients on peritoneal dialysis with staphylococcal peritonitis[J]. Nephrol Dial Transplant,2011,26(3):1042-1045.
[12] Aoyagi Y, Adderson EE, Rubens CE, et al. L-Ficolin/mannose-binding lectin-associated serine protease complexes bind to group B streptococci primarily through N-acetylneuraminic acid of capsular polysaccharide and activate the complement pathway[J]. Infect Immun,2008,76(1):179-188.
[13] Messias-Reason IJ, Schafranski MD, Kremsner PG, et al. Ficolin 2 (FCN2) functional polymorphisms and the risk of rheumatic fever and rheumatic heart disease[J]. Clin Exp Immunol,2009,157(3):395-399.
[14] Berdeli A, Celik HA, Ozyurek R, et al. TLR-2 gene Arg753Gln polymorphism is strongly associated with acute rheumatic fever in children[J]. J Mol Med (Berl),2005,83(7):535-541.
[15] Zhu L, Zou LJ, Hua R, et al. Association of single-nucleotide polymorphisms in toll-like receptor 5 gene with rheumatic heart disease in Chinese Han population[J]. Int J Cardiol,2010,145(1):129-130.
[16] Lorenz E, Mira JP, Cornish KL, et al. A novel polymorphism in the toll-like receptor 2 gene and its potential association with staphylococcal infection[J]. Infect Immun,2000,68(11):6398-6401.
[17] Zhang P, Cox CJ, Alvarez KM, et al. Cutting edge: cardiac myosin activates innate immune responses through TLRs[J]. J Immunol,2009,183(1):27-31.
[18] Settin A, Abdel-Hady H, El-Baz R, et al. Gene polymorphisms of TNF-alpha(-308), IL-10(-1082), IL-6(-174), and IL-1Ra(VNTR) related to susceptibility and severity of rheumatic heart disease[J]. Pediatr Cardiol,2007,28(5):363-371.
[19] Hernandez-Pacheco G, Flores-Dominguez C, Rodriguez-Perez JM, et al. Tumor necrosis factor-alpha promoter polymorphisms in Mexican patients with rheumatic heart disease[J]. J Autoimmun,2003,21(1):59-63.
[20] Sallakci N, Akcurin G, Koksoy S, et al. TNF-alpha G-308A polymorphism is associated with rheumatic fever and correlates with increased TNF-alpha production[J]. J Autoimmun,2005,25(2):150-154.
[21] Ramasawmy R, Fae KC, Spina G, et al. Association of polymorphisms within the promoter region of the tumor necrosis factor-alpha with clinical outcomes of rheumatic fever[J].Mol Immunol,2007,44(8):1873-1878.
[22] Hua R, Xu JB, Wang JC, et al. Association of TNFAIP3 polymorphism with rheumatic heart disease in Chinese Han population[J]. Immunogenetics,2009,61(11/12):739-744.
[23] Jian B, Narula N, Li QY, et al. Progression of aortic valve stenosis: TGF-beta1 is present in calcified aortic valve cusps and promotes aortic valve interstitial cell calcification via apoptosis[J]. Ann Thorac Surg,2003,75(2):457-465.
[24] Grainger DJ, Heathcote K, Chiano M, et al. Genetic control of the circulating concentration of transforming growth factor type beta1[J]. Hum Mol Genet,1999,8(1):93-97.
[25] Holweg CT, Baan CC, Balk AH, et al. The transforming growth factor-beta1 codon 10 gene polymorphism and accelerated graft vascular disease after clinical heart transplantation[J]. Transplantation,2001,71(10):1463-1467.
[26] Chou HT, Chen CH, Tsai CH, et al. Association between transforming growth factor-beta1 gene C-509T and T869C polymorphisms and rheumatic heart disease[J]. Am Heart J,2004,148(1):181-186.
[27] Kamal H, Hussein G, Hassoba H, et al. Transforming growth factor-beta1 gene C-509T and T869C polymorphisms as possible risk factors in rheumatic heart disease in Egypt[J]. Acta Cardiol,2010,65(2):177-183.
[28] Rigat B, Hubert C, Alhenc-Gelas F, et al. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels[J]. J Clin Invest,1990,86(4):1343-1346.
[29] Atalar E, Tokgozoglu SL, Alikasifoglu M, et al. Angiotensin-converting enzyme genotype predicts valve damage in acute rheumatic fever[J]. J Heart Valve Dis,2003,12(1):7-10.
[30] Morsy MM, Abdelaziz NA, Boghdady AM, et al. Angiotensin converting enzyme DD genotype is associated with development of rheumatic heart disease in Egyptian children[J]. Rheumatol Int,2011,31(1):17-21.
[31] Chou HT, Tsai CH, Tsai FJ. Association between angiotensin I-converting enzyme gene insertion/deletion polymorphism and risk of rheumatic heart disease[J]. Jpn Heart J,2004,45(6):949-957.
[32] Ozisik K, Emir M, Ulus AT, et al. The renin-angiotensin system genetic polymorphisms and rheumatic mitral valve disease[J]. J Heart Valve Dis,2004,13(1):33-37.
[33] Duzgun N, Duman T, Haydardedeoglu FE, et al. Cytotoxic T lymphocyte-associated antigen-4 polymorphism in patients with rheumatic heart disease[J]. Tissue Antigens,2009,74(6):539-542.