Association between p53 codon 72 polymorphism and systemic lupus erythematosus
More details
Hide details
Submission date: 2013-06-23
Final revision date: 2014-02-11
Acceptance date: 2014-03-19
Online publication date: 2014-06-04
Publication date: 2014-04-30
Reumatologia 2014;52(2):94-98
Aim: Systemic lupus erythematosus (SLE) is a systemic vasculitic disorder, with multiple genes involved in the disease pathogenesis. The p53 gene plays an important role in controlling the cell cycle. We aimed to study the prevalence of p53 polymorphism in SLE patients and analyze the relationship between the p53 polymorphism and clinical-laboratory features of the disease.
Material and methods: This case-control study was conducted on patients with confirmed SLE at Namazi Hospital, Shiraz, Iran. Seventy-seven patients with SLE including 9 (11.8%) men and 68 (88.2%) women with mean age of 25.61 ±10.69 years and 80 healthy controls with mean age of 51.82 ±14.25 years were included. The patients’ information, including the epidemiological profile, disease history, disease symptoms and also the laboratory findings, were extracted from the hospital records. The p53 expression was determined in lyzed lymphocytes. The data were analyzed using SPSS software version 14.00 for Windows considering p < 0.05 as statistically significant.
Results: The frequencies of Arg/Arg, Pro/Pro and Arg/Pro among normal controls were 38.8%, 28.8% and 37.5%, respectively, but in the patients, Arg/Arg, Pro/Pro and Arg/Pro genotypes frequencies were shown to be 29.2%, 12.3% and 58.5%, respectively. Thus, heterozygous form of this polymorphism was shown to be associated with the disease more than the homozygous alleles. There was a significant relationship between the different allele types of p53 and some clinical features of SLE. There was no association between the different allele types and any of the initial manifestations of the disease and the laboratory findings, as well.
Conclusions: In an Iranian population the functional oncoprotein of p53 with codon 72 polymorphism may play an important role in the pathogenesis and clinical presentation of SLE.
Zhong S, Huang M, Yang X, et al. Relationship of glutathione S-transferase genotypes with side-effects of pulsed cyclophosphamide therapy in patients with systemic lupus erythematosus. Br J Clin Pharmacol 2006; 62: 457-472. .
Ruiz-Irastorza G, Khamashta MA, Castellino G. Systemic lupus erythematosus. Lancet 2001; 357: 1027-1032. .
Rahman A, Isenberg DA. Systemic lupus erythematosus. N Engl J Med 2008; 358: 929-939. .
D’Cruz DP, Khamashta MA, Hughes GR. Systemic lupus erythematosus. Lancet 2007; 369: 587-596. .
Lupus Foundation of America. What are the risks for developing lupus. Available at http://www.lupus.org/webmodule.... Accessed March 22, 2012. .
Nath SK, Kilpatrick J and Harley JB. Genetics of human systemic lupus erythematosus: the emerging picture. Curr Opin Immunol 2004; 16: 794-800. .
Liu CC, Manzi S, Ahearn JM. Biomarkers for systemic lupus erythematosus: a review and perspective. Curr Opin Rheumatol 2005; 17: 543-549. .
Deng Y, Tsao BP. Genetic susceptibility to systemic lupus erythematosus in the genomic era. Nat Rev Rheumatol 2010; 6: 683-692. .
Moser KL, Kelly JA, Lessard CJ, et al. Recent insights into the genetic basis of systemic lupus erythematosus. Genes Immun 2009; 10: 373-379. .
Alarcón-Segovia D, Alarcón-Riquelme ME, Cardiel MH, et al. Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort. Arthritis Rheum 2005; 52: 1138-1147 .
Onel KB, Huo D, Hastings D. Lack of Association of the TP53 Arg72Pro SNP and the MDM2 SNP309 with systemic lupus erythematosus in Caucasian, African American, and Asian children and adults. Lupus 2009; 18: 61-66. .
Bendesky A, Rosales A, Salazar AM, et al. p53 codon 72 polymorphism, DNA damage and repair, and risk of non-melanoma skin cancer. Mutat Res 2007; 619: 38-44. .
Thomas M, Kalita A, Labrecque S, et al. Two polymorphic variants of wild-type p53 differ biochemically and biologically. Mol Cell Biol 1999; 19: 1092-10100. .
Sánchez E, Sabio JM, Callejas JL. Study of a functional polymorphism in thep53 gene in systemic lupus erythematosus: lack of replication in a Spanish population. Lupus 2006; 15: 658-661. .
Madeleine MM, Shera K, Schwartz SM, et al. Cancer Epide- miol. Biomarkers Prev 2000; 9: 225-227. .
Sreeja L, Syamala V, Raveendran PB, et al. p53 Arg72Pro polymorphism predicts survival outcome in lung cancer patients in Indian population. Cancer Invest 2008; 26: 41-46. .
Piotrowski P, Lianeri M, Mostowska M, et al. Contribution of polymorphism in codon 72 of p53 gene to systemic lupus erythematosus in Poland. Lupus 2008; 17: 148-151. .
Buller RE, Sood A, Fullenkamp C, et al. The influence of the p53 codon 72 polymorphism on ovarian carcinogenesis and prognosis. Cancer Gene Ther 1997; 4: 239-245. .
Chen RH, Chang CT, Wang TY, et al. p53 codon 72 proline/arginine polymorphism and autoimmune thyroid diseases. J Clin Lab Anal 2008; 22: 321-326. .
Jin X, Wu X, Roth JA, et al. Higher lung cancer risk for younger African-Americans with the Pro/Pro p53 genotype. Carcinogenesis 1995; 16: 2205-2208. .
Lee YH, Rho YH, Choi SJ, et al. The functional p53 codon 72 polymorphism is associated with systemic lupus erythematosus. Lupus 2005; 4: 842-845. .
Lee YH, Bae SC, Choi SJ, et al. Associations between the p53 codon 72 polymorphisms and susceptibility to systemic lupus erythematosus and rheumatoid arthritis: a meta-analysis. Lupus 2012; 21: 430-437.
Copyright: © Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie. This is an Open Access journal, all articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (https://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
Journals System - logo
Scroll to top