Polimorfismos de nucleótidos simples en el gen NRAMP1 / SLC11A1 para el riesgo de susceptibilidad a la tuberculosis

Autores/as

DOI:

https://doi.org/10.33448/rsd-v9i11.9708

Palabras clave:

SNP; Gene; Tuberculosis micobacteriana.

Resumen

Introducción: La tuberculosis es una enfermedad infecciosa que tiene como principal agente etiológico a Mycobacterium tuberculosis (M. tuberculosis), lo que se configura como un problema de salud pública mundial. Los errores en la respuesta inmune del individuo al patógeno pueden desencadenar la susceptibilidad al agente infeccioso, por lo que los estudios con SNP en el gen NRAMP1 / SLC11A1 se han llevado a cabo ampliamente en investigaciones de susceptibilidad a enfermedades infecciosas, especialmente tuberculosis. Objetivo: El objetivo fue relacionar los polimorfismos de nucleótidos simples en las variantes 5´Promotor, D543N, INT4 y 3´UTR del gen NRAMP1 / SLC11A1 en la susceptibilidad del individuo a M. tuberculosis mediante un metaanálisis. Metodología: Este trabajo se realizó siguiendo las pautas metodológicas de una Revisión Sistemática según el protocolo PRISMA, a partir de la cual se realizaron búsquedas en las principales bases de datos electrónicas de Medline a través de Pubmed, Science Direct y Lilacs. Los estudios fueron seleccionados según los criterios de elegibilidad, con un total de 39 artículos científicos elegidos para la recolección de datos, sin restricción de idioma o año. Resultados y discusión: Los resultados de este estudio mostraron una posible asociación entre los SNP del gen NRAMP1 / SLC11A1 con el riesgo de susceptibilidad a la tuberculosis. El análisis de subgrupos sugirió que de las 5 etnias y / o continentes analizados (África, Sudamérica, Norteamérica, caucásicos y asiáticos), solo los caucásicos no obtuvieron resultados estadísticamente significativos de ninguna variante con mayor riesgo de susceptibilidad a la tuberculosis. Conclusión: El presente estudio mostró una posible asociación entre polimorfismos en la variante 5´Promotor, INT4, D543N y 3´UTR de SNP del gen NRAMP1 / SLC11A1 con el riesgo de susceptibilidad a la tuberculosis.

Citas

Abe, T., Iinuma, Y., Ando, M., Yokoyama, T., Yamamoto, T., Nakashima, K., & Shimokata, K. (2003). NRAMP1 polymorphisms, susceptibility and clinical features of tuberculosis. Journal of Infection, 46(4), 215-220.

Asai, S., Abe, Y., Fujino, T., Masukawa, A., Arami, S., Furuya, H., & Miyachi, H. (2008). Association of the SLC11A1 gene polymorphisms with susceptibility to mycobacterium infections in a japanese population. Infectious Diseases in Clinical Practice, 16(4), 230-234.

Ates, Ö., Dalyan, L., Müsellim, B., Hatemi, G., Türker, H., Öngen, G., & Topal‐Sarıkaya, A. (2009). NRAMP1 (SLC11A1) gene polymorphisms that correlate with autoimmune versus infectious disease susceptibility in tuberculosis and rheumatoid arthritis. International journal of immunogenetics, 36(1), 15-19.

Awomoyi, A. A., Marchant, A., Howson, J. M., McAdam, K. P., Blackwell, J. M., & Newport, M. J. (2002). Interleukin-10, polymorphism in SLC11A1 (formerly NRAMP1), and susceptibility to tuberculosis. The Journal of infectious diseases, 186(12), 1808-1814.

Bellamy, R., Ruwende, C., Corrah, T., McAdam, K. P., Whittle, H. C., & Hill, A. V. (1998). Variations in the NRAMP1 gene and susceptibility to tuberculosis in West Africans. New England Journal of Medicine, 338(10), 640-644.

Ben-Selma, W., Harizi, H., Letaief, M., & Boukadida, J. (2012). Age-and gender-specific effects on NRAMP1 gene polymorphisms and risk of the development of active tuberculosis in Tunisian populations. International Journal of Infectious Diseases, 16(7), e543-e550.

Campos, H. S. (2006). Diagnóstico da tuberculose. Pulmão RJ, 15(2), 92-99.

Cellier, M. F. (2017). Developmental control of NRAMP1 (SLC11A1) expression in professional phagocytes. Biology, 6(2), 28.

Chapman, S. J., & Hill, A. V. (2012). Human genetic susceptibility to infectious disease. Nature Reviews Genetics, 13(3), 175-188.

Dallmann-Sauer, M., Correa-Macedo, W., & Schurr, E. (2018). Human genetics of mycobacterial disease. Mammalian Genome, 29(7-8), 523-538.

Delgado, J. C., Baena, A., Thim, S., & Goldfeld, A. E. (2002). Ethnic-specific genetic associations with pulmonary tuberculosis. The Journal of infectious diseases, 186(10), 1463-1468.

De Wit, E., van der Merwe, L., van Helden, P. D., & Hoal, E. G. (2011). Gene-gene interaction between tuberculosis candidate genes in a South African population. Mammalian Genome, 22(1-2), 100-110.

Dos Santos, E. J. F., & Cunha, M. (2013). Interpretação crítica dos resultados estatísticos de uma meta-análise: estratégias metodológicas. Millenium, (44), 85-89.

Druszczynska, M, Strapagiel, D, Kwiatkowska, S, Kowalewicz-Kulbat, M, Rozalska, B., Chmiela, M, & Rudnicka, W. (2006). Tuberculosis bacilli still posing a threat. Polymorphism of genes regulating anti-mycobacterial properties of macrophages. Polish journal of microbiology, 55(1), 7.

Farnia, P., Pazhand, O., Tabarsi, P., Kazempour, D. M., Mohammadi, F., Varahram, M., & Velayati, A. (2008). Comparison of Nramp1 gene polymorphism among TB health care workers and recently infected cases; assessment of host susceptibility.

Fernández-Mestre, M., Villasmil, Á., Takiff, H., & Fuentes Alcalá, Z. (2015). NRAMP1 and VDR gene polymorphisms in susceptibility to tuberculosis in Venezuelan population. Disease markers.

Ferris, M. T., & Hood, D. W. (2018). Host genetic regulation of immune-based and infectious diseases. Mammalian Genome, 29(7-8), 365-366.

Fitness, J., Floyd, S., Warndorff, D. K., Sichali, L., Malema, S., Crampin, A. C., & Hill, A. V. (2004). Large-scale candidate gene study of tuberculosis susceptibility in the Karonga district of northern Malawi. The American journal of tropical medicine and hygiene, 71(3), 341-349.

Fol, M., Druszczynska, M., Wlodarczyk, M., Ograczyk, E., & Rudnicka, W. (2015). Immune response gene polymorphisms in tuberculosis. Acta Biochimica Polonica, 62(4).

Forrellad, M. A., Klepp, L. I., Gioffré, A., Sabio y Garcia, J., Morbidoni, H. R., Santangelo, M. D. L. P., & Bigi, F. (2013). Virulence factors of the Mycobacterium tuberculosis complex. Virulence, 4(1), 3-66.

Gao, P. S., Fujishima, S., Mao, X. Q., Remus, N., Kanda, M., Enomoto, T., & Yamaguchi, K. (2000). Genetic variants of NRAMP1 and active tuberculosis in Japanese populations. International Tuberculosis Genetics Team. Clinical genetics, 58(1), 74.

Griffiths, Anthony et al. (2016). Genética de Populações. In: ldilia Vanzellotti (Org.). Introdução à genética. Rio de Janeiro, Guanabara Koogan.

Harishankar, M., Selvaraj, P., & Bethunaickan, R. (2018). Influence of genetic polymorphism towards pulmonary tuberculosis susceptibility. Frontiers in medicine, 5, 213.

Hatta, M., Ratnawati, T. M., Ito, J., Shirakawa, T., & Kawabata, M. (2010). NRAMP1/SLC11A1 gene polymorphisms and host susceptibility to Mycobacterium tuberculosis and M. leprae in South Sulawesi, Indonesia. Southeast Asian J Trop Med Public Health, 41(2), 386-94.

Hawkins, S. F., & Guest, P. C. (2017). Multiplex Single Nucleotide Polymorphism Analyses. In Multiplex Biomarker Techniques (pp. 143-148). Humana Press, New York, NY.

Hsu, Y. H., Chen, C. W., Sun, H. S., Jou, R., Lee, J. J., & Su, I. J. (2006). Association of NRAMP 1 gene polymorphism with susceptibility to tuberculosis in Taiwanese aboriginals. Journal of the Formosan Medical Association, 105(5), 363-369.

Hershkovitz, I., Donoghue, H. D., Minnikin, D. E., May, H., Lee, O. Y. C., Feldman, M., & Bar-Gal, G. K. (2015). Tuberculosis origin: the Neolithic scenario. Tuberculosis, 95, S122-S126.

Jafari, M., Nasiri, M. R., Sanaei, R., Anoosheh, S., Farnia, P., Sepanjnia, A., & Tajik, N. (2016). The NRAMP1, VDR, TNF-α, ICAM1, TLR2 and TLR4 gene polymorphisms in Iranian patients with pulmonary tuberculosis: A case–control study. Infection, Genetics and Evolution, 39, 92-98.

Jin, J., Sun, L., Jiao, W., Zhao, S., Li, H., Guan, X., & Shen, A. (2009). SLC11A1 (Formerly NRAMP1) gene polymorphisms associated with pediatric tuberculosis in China. Clinical infectious diseases, 48(6), 733-738.

Kim, J. H., Lee, S. Y., Lee, S. H., Sin, C., Shim, J. J., In, K. H., & Kang, K. H. (2003). NRAMP1 genetic polymorphisms as a risk factor of tuberculous pleurisy. The International Journal of Tuberculosis and Lung Disease, 7(4), 370-375.

Leung, K. H., Yip, S. P., Wong, W. S., San Yiu, L., Chan, K. K., Lai, W. M., & Chan, K. S. (2007). Sex-and age-dependent association of SLC11A1polymorphisms with tuberculosis in Chinese: a case control study. BMC infectious diseases, 7(1), 19.

Liaw, Y. S., Tsai-Wu, J. J., Wu, C. H., Hung, C. C., Lee, C. N., Yang, P. C., & Kuo, S. H. (2002). Variations in the NRAMP1 gene and susceptibility of tuberculosis in Taiwanese. The International Journal of Tuberculosis and Lung Disease, 6(5), 454-460.

Liu, W., Cao, W. C., Zhang, C. Y., Tian, L., Wu, X. M., Habbema, J. D. F., & Yang, H. (2004). VDR and NRAMP1 gene polymorphisms in susceptibility to pulmonary tuberculosis among the Chinese Han population: a case-control study. The International Journal of Tuberculosis and Lung Disease, 8(4), 428-434.

Li, H. T., Zhang, T. T., Huang, Q. H., Lv, B., & Huang, J. (2006). Meta-analysis on NRAMP1 gene polymorphisms and tuberculosis susceptibility in East-Asia population. Zhonghua liu xing bing xue za zhi= Zhonghua liuxingbingxue zazhi, 27(5), 428-432.

Li, X., Yang, Y., Zhou, F., Zhang, Y., Lu, H., Jin, Q., & Gao, L. (2011). SLC11A1 (NRAMP1) polymorphisms and tuberculosis susceptibility: updated systematic review and meta-analysis. PloS one, 6(1), e15831.

Ma, X., Dou, S., Wright J, A., Reich R, A., Teeter L, D., El Sahly H, M., & Graviss E, A. (2002). 5′ dinucleotide repeat polymorphism of NRAMP1 and susceptibility to tuberculosis among Caucasian patients in Houston, Texas. The International Journal of Tuberculosis and Lung Disease, 6(9), 818-823.

Medapati, R. V., Suvvari, S., Godi, S., & Gangisetti, P. (2017). NRAMP1 and VDR gene polymorphisms in susceptibility to pulmonary tuberculosis among Andhra Pradesh population in India: a case–control study. BMC Pulmonary Medicine, 17(1), 89.

Merza, M., Farnia, P., Anoosheh, S., Varahram, M., Kazampour, M., Pajand, O., & Hoffner, S. (2009). The NRAMPI, VDR and TNF-α gene polymorphisms in Iranian tuberculosis patients: the study on host susceptibility. Brazilian Journal of Infectious Diseases, 13(4), 252-256.

Niño‐Moreno, P., Portales‐Pérez, D., Hernández‐Castro, B., Portales‐Cervantes, L., Flores‐Meraz, V., Baranda, L., & González‐Amaro, R. (2007). P2X7 and NRAMP1/SLC11 A1 gene polymorphisms in Mexican mestizo patients with pulmonary tuberculosis. Clinical & Experimental Immunology, 148(3), 469-477.

Nogueira, A. F., Facchinetti, V., Souza, M. V. N. D., & Vasconcelos, T. R. A. (2012). Tuberculose: uma abordagem geral dos principais aspectos. Rev. Bras. Farm, 93(1), 3-9.

O'Garra, A., Redford, P. S., McNab, F. W., Bloom, C. I., Wilkinson, R. J., & Berry, M. P. (2013). The immune response in tuberculosis. Annual review of immunology, 31, 475-527.

Pacheco, A. G., & Moraes, M. O. (2009). Genetic polymorphisms of infectious diseases in case-control studies. Disease markers, 27(3, 4), 173-186.

Pai, M., Behr, M. A., Dowdy, D., Dheda, K., Divangahi, M., Boehme, C. C., & Menzies, D. (2016). Tuberculosis. Nature reviews. Disease primers, 2, 16076.

Pereira, M. G., & Galvão, T. F. (2014). Heterogeneidade e viés de publicação em revisões sistemáticas. Epidemiologia e Serviços de Saúde, 23, 775-778.

Poon, A. H., Laprise, C., Lemire, M., Hudson, T. J., & Schurr, E. (2005). NRAMP1 is not associated with asthma, atopy, and serum immunoglobulin E levels in the French Canadian population. Genes & Immunity, 6(6), 519-527.

Ryu, S., Park, Y. K., Bai, G. H., Kim, S. J., Park, S. N., & Kang, S. (2000). 3′ UTR polymorphisms in the NRAMP1 gene are associated with susceptibility to tuberculosis in Koreans. The International Journal of Tuberculosis and Lung Disease, 4(6), 577-580.

Sahiratmadja, E., Wieringa, FT, van Crevel, R., de Visser, AW, Adnan, I., Alisjahbana, B., & Marx, JJ (2007). A deficiência de ferro e os polimorfismos NRAMP1 (INT4, D543N e 3 ′ UTR) não contribuem para a gravidade da anemia na tuberculose na população indonésia. British Journal of Nutrition , 98 (4), 684-690.

Salinas-Delgado, Y., Galaviz-Hernández, C., Toral, R. G., Rejón, C. A. Á., Reyes-Lopez, M. A., Martínez, A. R., & Sosa-Macías, M. (2015). The D543N polymorphism of the SLC11A1/NRAMP1 gene is associated with treatment failure in male patients with pulmonary tuberculosis. Drug Metabolism and Personalized Therapy, 30(3), 211-214.

Selvaraj, P., Chandra, G., Kurian, S. M., Reetha, A. M., Charles, N., & Narayanan, P. R. (2002). NRAMP1 gene polymorphism in pulmonary and spinal tuberculosis. Current Science, 451-454.

Singh, A., Gaughan, J. P., & Kashyap, V. K. (2011). SLC11A1 and VDR gene variants and susceptibility to tuberculosis and disease progression in East India. The International journal of tuberculosis and lung disease, 15(11), 1468-1475.

Søborg, C., Andersen, AB, Madsen, HO, Kok-Jensen, A., Skinhøj, P., & Garred, P. (2002). Polimorfismos da proteína 1 de macrófagos associados à resistência natural estão associados à tuberculose microscopia positiva. The Journal ofinfectious disease , 186 (4), 517-521.

Solğun, H. A., Taştemir, D., Aksaray, N., Inan, I., & Demirhan, O. (2011). Polymorphisms in NRAMP1 and MBL2 genes and their relations with tuberculosis in Turkish children. Tuberkuloz ve toraks, 59(1), 48-53.

Stagas, M. K., Papaetis, G. S., Orphanidou, D., Kostopoulos, C., Syriou, S., Reczko, M., & Drakoulis, N. (2011). Polymorphisms of the NRAMP1 gene: distribution and susceptibility to the development of pulmonary tuberculosis in the Greek population. Medical science monitor: international medical journal of experimental and clinical research, 17(1), PH1.

Strachan, T., & Read, A. (2016). Genética molecular humana. Artmed Editora.

Taype, C. A., Castro, J. C., Accinelli, R. A., Herrera-Velit, P., Shaw, M. A., & Espinoza, J. R. (2006). Association between SLC11A1 polymorphisms and susceptibility to different clinical forms of tuberculosis in the Peruvian population. Infection, Genetics and Evolution, 6(5), 361-367.

Tiksnadi, B., & Herman, H. (2013). The NRAMP1 polymorphism as a risk factor for tuberculous spondylitis. Malaysian orthopaedic journal, 7(1), 25.

Vejbaesya, S., Chierakul, N., Luangtrakool, P., & Sermduangprateep, C. (2007). NRAMP1 and TNF‐α polymorphisms and susceptibility to tuberculosis in Thais. Respirology, 12(2), 202-206.

Qu, Y., Tang, Y., Cao, D., Wu, F., Liu, J., Lu, G., & Xia, Z. (2007). Genetic polymorphisms in alveolar macrophage response-related genes, and risk of silicosis and pulmonary tuberculosis in Chinese iron miners. International journal of hygiene and environmental health, 210(6), 679-689.

WHO. World Health Organization. (2018). Global tuberculosis report 2018. World Health Organization.

Wu, F., Zhang, W., Zhang, L., Wu, J., Li, C., Meng, X., & Zhang, J. (2013). NRAMP1, VDR, HLA-DRB1, and HLA-DQB1 gene polymorphisms in susceptibility to tuberculosis among the Chinese Kazakh population: a case-control study. BioMed research international.

Wu, L., Deng, H., Zheng, Y., Mansjö, M., Zheng, X., Hu, Y., & Xu, B. (2015). An association study of NRAMP1, VDR, MBL and their interaction with the susceptibility to tuberculosis in a Chinese population. International Journal of Infectious Diseases, 38, 129-135.

Xu, Y. Z., Thuraisingam, T., Kanagaratham, C., Tao, S., & Radzioch, D. (2018). c-Src kinase is involved in the tyrosine phosphorylation and activity of SLC11A1 in differentiating macrophages. PloS one, 13(5), e0196230.

Zhang, W., Shao, L., Weng, X., Hu, Z., Jin, A., Chen, S., & Chen, Z. W. (2005). Variants of the natural resistance-associated macrophage protein 1 gene (NRAMP1) are associated with severe forms of pulmonary tuberculosis. Clinical infectious diseases, 40(9), 1232-1236.

Publicado

12/11/2020

Cómo citar

SOUZA, K. S. .; FÉLIX, K. C. da S. .; CARVAS JÚNIOR, N. .; PEREIRA, R. B. .; SILVA, M. R. F. da .; MIRANDA, F. S. L. .; OLIVEIRA, M. B. M. de .; SANTOS , G. dos .; LIMA, F. L. O. .; SILVA, R. R. dos S. .; BRITO, L. P. de . Polimorfismos de nucleótidos simples en el gen NRAMP1 / SLC11A1 para el riesgo de susceptibilidad a la tuberculosis. Research, Society and Development, [S. l.], v. 9, n. 11, p. e2489119708, 2020. DOI: 10.33448/rsd-v9i11.9708. Disponível em: https://rsdjournal.org/index.php/rsd/article/view/9708. Acesso em: 2 jul. 2024.

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Sección

Ciencias de la salud