2009, Number 1
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Ann Hepatol 2009; 8 (1)
Human leukocyte antigens among primary biliary cirrhosis patients born in Mexico
Vázquez-Elizondo G, Ponciano-Rodríguez G, Uribe M, Méndez-Sánchez N
Language: Spanish
References: 63
Page: 32-37
PDF size: 127.20 Kb.
Text Extraction
Background and aim: Primary biliary cirrhosis (PBC) is a chronic cholestatic disease of autoimmune origin and has a genetic component. Although it has been reported that the prevalence of the HLA-DRB1*08 allele is high in various populations, the prevalence of HLA alleles in Mexican PBC patients has not been described. The aim of this study was to quantify the prevalence of HLA-B/-DR alleles in Mexican PBC patients.
Materials and methods: A case-control transversal study was performed during January and July 2008 with adult patients diagnosed with PBC. Cases were defined as subjects with PBC and controls were obtained from healthy subjects evaluated for bone marrow transplantation. Laboratory was performed at the moment of diagnosis. HLA-B/-DR allele frequency was obtained by gene counting and allele presence was determined by PCR-SSP procedure. Descriptive statistics between groups was evaluated by Chi-square with Yates correction.
Results: Nine patients (seven females and two males, mean ±SD age = 57.5 ± 10.5 years) were studied. The most prevalent alleles were HLA-DRB1*01 (n = 4), DRB1*04 (n = 4), B*39 (n = 34), B*14 (n = 3), and B*51 (n = 2). Linkage disequilibrium was detected for alleles HLA-B*39/DRB1*04 (n = 3), HLA-B*14/HLA-DRB1*01 (n = 2), and B*51-DRB1*04 (n = 1). In
conclusion: Mexican PBC patients express genes of native and Mediterranean origin.
REFERENCES
Juran BD, Lazaridis KN. Genetics and genomics of primary biliary cirrhosis. Clin Liver Dis 2008; 12: 349-65; ix.
Ahrens EH, Jr., Payne MA, Kunkel HG, Eisenmenger WJ, Blondheim SH. Primary biliary cirrhosis. Medicine (Baltimore) 1950; 29: 299-364.
Kaplan MM, Gershwin ME. Primary biliary cirrhosis. N Engl J Med 2005; 353: 1261-73.
Kim WR, Lindor KD, Locke GR, 3rd, Therneau TM, Homburger HA, Batts KP, Yawn BP, Petz JL, Melton LJ, 3rd, Dickson ER. Epidemiology and natural history of primary biliary cirrhosis in a US community. Gastroenterology 2000; 119: 1631-6.
Mayo MJ. Natural history of primary biliary cirrhosis. Clin Liver Dis 2008; 12: 277-88; viii.
Prince MI, Chetwynd A, Craig WL, Metcalf JV, James OF. Asymptomatic primary biliary cirrhosis: clinical features, prognosis, and symptom progression in a large population based cohort. Gut 2004; 53: 865-70.
Pares A, Rodes J. Natural history of primary biliary cirrhosis. Clin Liver Dis 2003; 7: 779-94.
Bergasa NV. Pruritus and fatigue in primary biliary cirrhosis. Clin Liver Dis 2003; 7: 879-900.
Muratori P, Muratori L, Ferrari R, Cassani F, Bianchi G, Lenzi M, Rodrigo L, Linares A, Fuentes D, Bianchi FB. Characterization and clinical impact of antinuclear antibodies in primary biliary cirrhosis. Am J Gastroenterol 2003; 98: 431-7.
Uddenfeldt P, Danielsson A. Evaluation of rheumatic disorders in patients with primary biliary cirrhosis. Ann Clin Res 1986; 18: 148-53.
Weetman AP. Non-thyroid autoantibodies in autoimmune thyroid disease. Best Pract Res Clin Endocrinol Metab 2005; 19: 17-32.
Tsianos EV, Hoofnagle JH, Fox PC, Alspaugh M, Jones EA, Schafer DF, Moutsopoulos HM. Sjogren’s syndrome in patients with primary biliary cirrhosis. Hepatology 1990; 11: 730-4.
Mayo MJ, Jenkins RN, Combes B, Lipsky PE. Association of clonally expanded T cells with the syndrome of primary biliary cirrhosis and limited scleroderma. Hepatology 1999; 29: 1635-42.
Selmi C, Cocchi CA, Zuin M, Gershwin ME. The Chemical Pathway to Primary Biliary Cirrhosis. Clin Rev Allergy Immunol. 2008 May 29; [Epub ahead of print].
Amano K, Leung PS, Rieger R, Quan C, Wang X, Marik J, Suen YF, Kurth MJ, Nantz MH, Ansari AA, Lam KS, Zeniya M, Matsuura E, Coppel RL, Gershwin ME. Chemical xenobiotics and mitochondrial autoantigens in primary biliary cirrhosis: identification of antibodies against a common environmental, cosmetic, and food additive, 2-octynoic acid. J Immunol 2005; 174: 5874-83.
Costenbader KH, Karlson EW. Cigarette smoking and autoimmune disease: what can we learn from epidemiology? Lupus 2006; 15: 737-45.
Gross RG, Odin JA. Recent advances in the epidemiology of primary biliary cirrhosis. Clin Liver Dis 2008; 12: 289-303; viii.
Lleo A, Invernizzi P, Mackay IR, Prince H, Zhong RQ, Gershwin ME. Etiopathogenesis of primary biliary cirrhosis. World J Gastroenterol 2008; 14: 3328-37.
Neuberger J. Antibodies and primary biliary cirrhosis-piecing together the jigsaw. J Hepatol 2002; 36: 126-9.
Lindor K. Ursodeoxycholic acid for the treatment of primary biliary cirrhosis. N Engl J Med 2007; 357: 1524-9.
Tanaka A, Borchers AT, Ishibashi H, Ansari AA, Keen CL, Gershwin ME. Genetic and familial considerations of primary biliary cirrhosis. Am J Gastroenterol 2001; 96: 8-15.
Selmi C, Mayo MJ, Bach N, Ishibashi H, Invernizzi P, Gish RG, Gordon SC, Wright HI, Zweiban B, Podda M, Gershwin ME. Primary biliary cirrhosis in monozygotic and dizygotic twins: genetics, epigenetics, and environment. Gastroenterology 2004; 127: 485-92.
Trowsdale J. HLA genomics in the third millennium. Curr Opin Immunol 2005; 17: 498-504.
Sundberg EJ, Deng L, Mariuzza RA. TCR recognition of peptide/MHC class II complexes and superantigens. Semin Immunol 2007; 19: 262-71.
Shimoda S, Nakamura M, Ishibashi H, Hayashida K, Niho Y. HLA DRB4 0101-restricted immunodominant T cell autoepitope of pyruvate dehydrogenase complex in primary biliary cirrhosis: evidence of molecular mimicry in human autoimmune diseases. J Exp Med 1995; 181: 1835-45.
Kita H, Matsumura S, He XS, Ansari AA, Lian ZX, Van de Water J, Coppel RL, Kaplan MM, Gershwin ME. Quantitative and functional analysis of PDC-E2-specific autoreactive cytotoxic T lymphocytes in primary biliary cirrhosis. J Clin Invest 2002; 109: 1231-40.
Kita H, Naidenko OV, Kronenberg M, Ansari AA, Rogers P, He XS, Koning F, Mikayama T, Van De Water J, Coppel RL, Kaplan M, Gershwin ME. Quantitation and phenotypic analysis of natural killer T cells in primary biliary cirrhosis using a human CD1d tetramer. Gastroenterology 2002; 123: 1031-43.
Migliaccio C, Van de Water J, Ansari AA, Kaplan MM, Coppel RL, Lam KS, Thompson RK, Stevenson F, Gershwin ME. Heterogeneous response of antimitochondrial autoantibodies and bile duct apical staining monoclonal antibodies to pyruvate dehydrogenase complex E2: the molecule versus the mimic. Hepatology 2001; 33: 792-801.
Charatcharoenwitthaya P, Lindor KD. Current concepts in the pathogenesis of primary biliary cirrhosis. Ann Hepatol 2005; 4: 161-75.
Talwalkar JA, Lindor KD. Primary biliary cirrhosis. Lancet 2003; 362: 53-61.
Donaldson PT, Baragiotta A, Heneghan MA, Floreani A, Venturi C, Underhill JA, Jones DE, James OF, Bassendine MF. HLA class II alleles, genotypes, haplotypes, and amino acids in primary biliary cirrhosis: a large-scale study. Hepatology 2006; 44: 667-74.
Stone J, Wade JA, Cauch-Dudek K, Ng C, Lindor KD, Heathcote EJ. Human leukocyte antigen Class II associations in serum antimitochondrial antibodies (AMA)-positive and AMA-negative primary biliary cirrhosis. J Hepatol 2002; 36: 8-13.
Mullarkey ME, Stevens AM, McDonnell WM, Loubiere LS, Brackensick JA, Pang JM, Porter AJ, Galloway DA, Nelson JL. Human leukocyte antigen class II alleles in Caucasian women with primary biliary cirrhosis. Tissue Antigens 2005; 65: 199-205.
Begovich AB, Klitz W, Moonsamy PV, Van de Water J, Peltz G, Gershwin ME. Genes within the HLA class II region confer both predisposition and resistance to primary biliary cirrhosis. Tissue Antigens 1994; 43: 71-7.
Onishi S, Sakamaki T, Maeda T, Iwamura S, Tomita A, Saibara T, Yamamoto Y. DNA typing of HLA class II genes; DRB1*0803 increases the susceptibility of Japanese to primary biliary cirrhosis. J Hepatol 1994; 21: 1053-60.
Wassmuth R, Depner F, Danielsson A, Hultcrantz R, Loof L, Olson R, Prytz H, Sandberg-Gertzen H, Wallerstedt S, Lindgren S. HLA class II markers and clinical heterogeneity in Swedish patients with primary biliary cirrhosis. Tissue Antigens 2002; 59: 381-7.
Miyamori H, Kato Y, Kobayashi K, Hattori N. HLA antigens in Japanese patients with primary biliary cirrhosis and autoimmune hepatitis. Digestion 1983; 26: 213-7.
Seki T, Kiyosawa K, Ota M, Furuta S, Fukushima H, Tanaka E, Yoshizawa K, Kumagai T, Mizuki N, Ando A, et al. Association of primary biliary cirrhosis with human leukocyte antigen DPB1*0501 in Japanese patients. Hepatology 1993; 18: 73-8.
Liu HY, Deng AM, Zhou Y, Yao DK, Xu DX, Zhong RQ. Analysis of HLA alleles polymorphism in Chinese patients with primary biliary cirrhosis. Hepatobiliary Pancreat Dis Int 2006; 5: 129-32.
Bittencourt PL, Palacios SA, Farias AQ, Abrantes-Lemos CP, Cancado EL, Carrilho FJ, Laudanna AA, Kalil J, Goldberg AC. Analysis of major histocompatibility complex and CTLA-4 alleles in Brazilian patients with primary biliary cirrhosis. J Gastroenterol Hepatol 2003; 18: 1061-6.
Invernizzi P, Battezzati PM, Crosignani A, Perego F, Poli F, Morabito A, De Arias AE, Scalamogna M, Zuin M, Podda M. Peculiar HLA polymorphisms in Italian patients with primary biliary cirrhosis. J Hepatol 2003; 38: 401-6.
Invernizzi P SC, Poly F, et al. HLA DRB1 polymorphisms in 676 Italian patients with primary biliary cirrhosis and 2028 matched healthy controls. A nation-wide population based case-control study. Hepatology 2005; 42: 462A.
Méndez-Sánchez N, Villa AR, Zamora-Valdes D, Morales-Espinosa D, Uribe M. Worldwide mortality from cirrhosis. Ann Hepatol 2007; 6: 194-5.
SSA. Estadísticas de Mortalidad: Información Tabular. Volume 2008. Secretaría de Salud ed. Ciudad de México: Secretaría de Salud, 2005.
Méndez-Sánchez N, Villa AR, Chavez-Tapia NC, Ponciano-Rodriguez G, Almeda-Valdes P, Gonzalez D, Uribe M. Trends in liver disease prevalence in Mexico from 2005 to 2050 through mortality data. Ann Hepatol 2005; 4: 52-5.
Méndez-Sánchez N, Aguilar-Ramirez JR, Reyes A, Dehesa M, Juorez A, Castneda B, Sanchez-Avila F, Poo JL, Guevara Gonzalez L, Lizardi J, Valdovinos MA, Uribe M, Contreras AM, Tirado P, Aguirre J, Rivera-Benitez C, Santiago-Santiago R, Bosques-Padilla F, Munoz L, Guerroro A, Ramos M, Rodriguez-Hernandez H, Jacobo-Karam J. Etiology of liver cirrhosis in Mexico. Ann Hepatol 2004; 3: 30-3.
Barquera R, Zuniga J, Hernandez-Diaz R, Acuna-Alonzo V, Montoya-Gama K, Moscoso J, Torres-Garcia D, Garcia-Salas C, Silva B, Cruz-Robles D, Arnaiz-Villena A, Vargas-Alarcon G, Granados J. HLA class I and class II haplotypes in admixed families from several regions of Mexico. Mol Immunol 2008; 45: 1171-8.
Davis RW, Thomas M, Cameron J, St John TP, Scherer S, Padgett RA. Rapid DNA isolations for enzymatic and hybridization analysis. Methods Enzymol 1980; 65: 404-11.
Bignon JD F-VM. International Histocompatibility Workshop for typing of HLA class II alleles by DNA amplification by polymerase chain reaction (PCR) and hybridization with sequence specific oligonucleotide probes (SSOP). In: Charron D, ed. Genetic Diversity of HLA: Functional and Medical Implications. Volume 1. Paris, France: EDK, 1997: 584-95.
Delgado-Vega AM, Martin J, Granados J, Anaya JM. [Genetic epidemiology of rheumatoid arthritis: what to expect from Latin America?]. Biomedica 2006; 26: 562-84.
Delgado-Vega AM, Anaya JM. Meta-analysis of HLA-DRB1 polymorphism in Latin American patients with rheumatoid arthritis. Autoimmun Rev 2007; 6: 402-8.
Ruiz-Morales JA, Vargas-Alarcon G, Flores-Villanueva PO, Villarreal-Garza C, Hernandez-Pacheco G, Yamamoto-Furusho JK, Rodriguez-Perez JM, Perez-Hernandez N, Rull M, Cardiel MH, Granados J. HLA-DRB1 alleles encoding the «shared epitope» are associated with susceptibility to developing rheumatoid arthritis whereas HLA-DRB1 alleles encoding an aspartic acid at position 70 of the beta-chain are protective in Mexican Mestizos. Hum Immunol 2004; 65: 262-9.
Simon JA, Granados J, Cabiedes J, Morales JR, Varela JA. Clinical and immunogenetic characterization of Mexican patients with ‘rhupus’. Lupus 2002; 11: 287-92.
Vargas-Alarcon G, Londono JD, Hernandez-Pacheco G, Pacheco-Tena C, Castillo E, Cardiel MH, Granados J, Burgos-Vargas R. Effect of HLA-B and HLA-DR genes on susceptibility to and severity of spondyloarthropathies in Mexican patients. Ann Rheum Dis 2002; 61: 714-7.
Soto ME, Vargas-Alarcon G, Cicero-Sabido R, Ramirez E, Alvarez-Leon E, Reyes PA. Comparison distribution of HLA-B alleles in mexican patients with Takayasu arteritis and tuberculosis. Hum Immunol 2007; 68: 449-53.
Granados J, Zuniga J, Acuna-Alonzo V, Rosetti F, Vargas-Alarcon G. [Influence of alleles and haplotypes of the main histocompatibility complex on the susceptibility to systemic lupus erythematosus in the Mexican population]. Gac Med Mex 2006; 142: 195-9.
Méndez-Sánchez N, King-Martinez AC, Ramos MH, Pichardo-Bahena R, Uribe M. The Amerindian’s genes in the Mexican population are associated with development of gallstone disease. Am J Gastroenterol 2004; 99: 2166-70.
Cruz-Robles D, Reyes PA, Monteon-Padilla VM, Ortiz-Muniz AR, Vargas-Alarcon G. MHC class I and class II genes in Mexican patients with Chagas disease. Hum Immunol 2004; 65: 60-5.
Gershwin ME, Mackay IR, Sturgess A, Coppel RL. Identification and specificity of a cDNA encoding the 70 kd mitochondrial antigen recognized in primary biliary cirrhosis. J Immunol 1987; 138: 3525-31.
Yeaman SJ, Fussey SP, Danner DJ, James OF, Mutimer DJ, Bassendine MF. Primary biliary cirrhosis: identification of two major M2 mitochondrial autoantigens. Lancet 1988; 1: 1067-70.
Gershwin ME, Mackay IR. The causes of primary biliary cirrhosis: Convenient and inconvenient truths. Hepatology 2008; 47: 737-45.
Poupon R, Ping C, Chretien Y, Corpechot C, Chazouilleres O, Simon T, Heath SC, Matsuda F, Poupon RE, Housset C, Barbu V. Genetic factors of susceptibility and of severity in primary biliary cirrhosis. J Hepatol 2008; 49: 1038-45.
Invernizzi P, Selmi C, Mackay IR, Podda M, Gershwin ME. From bases to basis: linking genetics to causation in primary biliary cirrhosis. Clin Gastroenterol Hepatol 2005; 3: 401-10.