Artículos de revistas
The Ccr5Δ32 Polymorphism In Brazilian Patients With Sickle Cell Disease
Registro en:
Disease Markers. Hindawi Publishing Corporation, v. 2014, n. , p. - , 2014.
2780240
10.1155/2014/678246
2-s2.0-84918769756
Autor
Lopes M.P.
Santos M.N.N.
Faber E.W.
Bezerra M.A.C.
Hatzlhofer B.L.D.
Albuquerque D.M.
Zaccariotto T.R.
Ribeiro D.M.
Da Silva Araujo A.
Costa F.F.
De Fatima Sonati M.
Institución
Resumen
Background. Previous studies on the role of inflammation in the pathophysiology of sickle cell disease (SCD) suggested that the CCR5Δ32 allele, which is responsible for the production of truncated C-C chemokine receptor type 5 (CCR5), could confer a selective advantage on patients with SCD because it leads to a less efficient Th1 response. We determined the frequency of the CCR5Δ32 polymorphism in 795 Afro-Brazilian SCD patients followed up at the Pernambuco Hematology and Hemotherapy Center, in Northeastern Brazil, divided into a pediatric group (3 months-17 years, n = 483) and an adult group (18-70 years, n = 312). The adult patients were also compared to a healthy control group (blood donors, 18-61 years, n = 247). Methods. The CCR5/CCR5Δ32 polymorphism was determined by allele-specific PCR. Results. No homozygous patient for the CCR5Δ32 allele was detected. The frequency of heterozygotes in the study population (patients and controls) was 5.8%, in the total SCD patients 5.1%, in the children 5.4%, in the adults with SCD 4.8%, and in the adult controls 8.1%. These differences did not reach statistical significance. Conclusions. Our findings failed to demonstrate an important role of the CCR5Δ32 allele in the population sample studied here. 2014
Steinberg, M.H., Pathophysiologically based drug treatment of sickle cell disease (2006) Trends in Pharmacological Sciences, 27 (4), pp. 204-210 Steinberg, M.H., Sickle cell anemia, the firstmolecular disease: Overviewofmolecular etiology, pathophysiology, and therapeutic approaches (2008) The Scientific World Journal, 8, pp. 1295-1324 Marotta, C.A., Wilson, J.T., Forget, B.J., Weissman, S.M., Human β globin messenger RNA III. Nucleotide sequences derived from complementary DNA (1977) The Journal of Biological Chemistry, 252 (14), pp. 5040-5053 Steinberg, M.H., Brugnara, C., Pathophysiological-based approaches to treatment of sickle cell disease (2003) Annual Review of Medicine, 54, pp. 89-112 De Sonati, M.F., Costa, F.F., The genetics of blood disorders: Hereditary hemoglobinopathies (2008) Jornal de Pediatria, 84 (4), pp. S40-S51 Zago, M.A., Pinto, A.C.S., The pathophysiology of sickle cell disease: From the genetic mutation to multiorgan disfunction (2007) Revista Brasileira de Hematologia e Hemoterapia, 29 (3), pp. 207-214 Embury, S.H., The not-so-simple process of sickle cell vasoocclusion (2004) Microcirculation, 11 (2), pp. 101-113 Rees, D.C., Williams, T.N., Gladwin, M.T., Sickle-cell disease (2010) The Lancet, 376 (9757), pp. 2018-2031 Kutlar, A., Sickle cell disease: A multigenic perspective of a single-gene disorder (2005) Medical Principles and Practice, 14, pp. 15-19 Chies, J.A.B., Nardi, N.B., Sickle cell disease: A chronic inflammatory condition (2001) Medical Hypotheses, 57 (1), pp. 46-50 Hebbel, R.P., Osarogiagbon, R., Kaul, D., The endothelial biology of sickle cell disease: Inflammation and a chronic vasculopathy (2004) Microcirculation, 11 (2), pp. 129-151 Vargas, A.E., Marrero, A.R., Salzano, F.M., Bortolini, M.C., Chies, J.A.B., Frequency of CCR5Δ32 in Brazilian populations (2006) Brazilian Journal of Medical and Biological Research, 39 (3), pp. 321-325 Liu, R., Paxton, W.A., Choe, S., Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection (1996) Cell, 86 (3), pp. 367-377 Benkirane, M., Jin, D.-Y., Chun, R.F., Koup, R.A., Jeang, K.-T., Mechanism of transdominant inhibition of CCR5-mediated HIV-1 infection by ccr5Δ32 (1997) The Journal of Biological Chemistry, 272 (49), pp. 30603-30606 Chies, J.A.B., Hutz, M.H., High frequency of the CCR5delta32 variant among individuals from an admixed Brazilian population with sickle cell anemia (2003) Brazilian Journal of Medical and Biological Research, 36 (1), pp. 71-75 Lidén, K., Linderholm, A., Götherström, A., Pushing it back. Dating the CCR5-D32 bp deletion to the Mesolithic in Sweden and its implications for the Meso/Neo transition (2006) Documenta Praehistorica, 33, pp. 29-37 Samson, M., Libert, F., Doranz, B.J., Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene (1996) Nature, 382 (6593), pp. 722-726 Libert, F., Cochaux, P., Beckman, G., The Δccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe (1998) Human Molecular Genetics, 7 (3), pp. 399-406 Lucotte, G., Frequencies of 32 base pair deletion of the (Δ32) allele of the CCR5 HIV-1 co-receptor gene in Caucasians: A comparative analysis (2002) Infection, Genetics and Evolution, 1 (3), pp. 201-205 Galvani, A.P., Novembre, J., The evolutionary history of the CCR5-Delta32 HIV-resistance mutation (2005) Microbes and Infection, 7 (2), pp. 302-309 Vargas, A.E., Cechim, G., Correa, J.F., Pros and cons of a missing chemokine receptor-Comments on "Is the European spatial distribution of the HIV-1-resistant CCR5-Δ32 allele formed by a breakdown of the pathocenosis due to the historical Roman expansion?" by Eric Faure and Manuela Royer-Carenzi (2008) (2009) Infection, Genetics and Evolution, 9 (4), pp. 387-389 Faure, E., Royer-Carenzi, M., Is the European spatial distribution of the HIV-1-resistant CCR5-Δ32 allele formed by a breakdown of the pathocenosis due to the historical Roman expansion? (2008) Infection, Genetics and Evolution, 8 (6), pp. 864-874 Martinson, J.J., Chapman, N.H., Rees, D.C., Liu, Y.-T., Clegg, J.B., Global distribution of the CCR5 gene 32-basepair deletion (1997) Nature Genetics, 16 (1), pp. 100-103 Carvalhaes, F.A.D.P.L., Cardoso, G.L., Hamoy, I.G., Yan, T.L., Guerreiro, J.F., Distribution of CCR5-Δ32, CCR2-64I, and SDF1-3′A mutations in populations from the Brazilian Amazon region (2004) Human Biology, 76 (4), pp. 643-646 Carvalho, M.W.P., Leboute, A.P.M., Oliveira, S.F., Sousa, S.M.B., De Nazaré Klautau-Guimarães, M., Simões, A.L., CCR5D32 mutation in three Brazilian populations of predominantly Sub-Saharan African ancestry (2004) Genetics and Molecular Biology, 27 (3), pp. 321-325 Boldt, A.B.W., Culpi, L., Tsuneto, L.T., Souza, I.R., Kun, J.F.J., Petzl-Erler, M.L., Analysis of the CCR5 gene coding region diversity in five South American populations reveals two new non-synonymous alleles in Amerindians and high CCR5∗D32 frequency in Euro-Brazilians (2009) Genetics and Molecular Biology, 32 (1), pp. 12-19 Teixeira, S.L.M., Bastos, F.I., Hacker, M.A., Morgado, M.G., Distribution of CCR5 genotypes and HLA Class I B alleles in HIV-1 infected and uninfected injecting drug users from Rio de Janeiro, Brazil (2009) Infection, Genetics and Evolution, 9 (4), pp. 638-642 Vieira, V.C., Barral, M.F.M., Mendoza-Sassi, R.A., Silveira, J.M., Soares, M.A., De Martínez, A.M.B., The effect of combined polymorphisms in chemokines and chemokine receptors on the clinical course of HIV-1 infection in a Brazilian population (2011) Memórias Do Instituto Oswaldo Cruz, 106 (4), pp. 408-415 Grimaldi, R., Shindo, N., Acosta, A.X., Prevalence of the CCR5Δ32 mutation in Brazilian populations and cell susceptibility to HIV-1 infection (2002) Human Genetics, 111 (1), pp. 102-104 Rigato, P.O., Hong, M.A., Casseb, J., Better CD4+ T cell recovery in Brazilian HIV-infected individuals under HAART due to commulative carriage of SDF-1-3′ A, CCR2-V64I, CCR5-D32 and CCR5-promoter 59029A/G Polymorphisms (2008) Current HIV Research, 6 (5), pp. 466-473 Hünemeier, T., Neves, A.G., Nornberg, I., T-cell and chemokine receptor variation in South Amerindian populations (2005) American Journal of Human Biology, 17 (4), pp. 515-518 De Farias, J.D., Santos, M.G., De Franc¸a, A.K., Distribution of the CCR5delta32 allele (gene variant CCR5) in Rondônia, Western Amazonian region, Brazil (2012) Genetics and Molecular Biology, 35 (1), pp. 27-31 Jones, K.L., Maguire, J.J., Davenport, A.P., Chemokine receptor CCR5: From AIDS to atherosclerosis (2011) British Journal of Pharmacology, 162 (7), pp. 1453-1469 Pichenot, M., Deuffic-Burban, S., Cuzin, L., Yazdanpanah, Y., Efficacy of new antiretroviral drugs in treatment-experienced HIV-infected patients: A systematic review and meta-analysis of recent randomized controlled trials (2012) HIV Medicine, 13 (3), pp. 148-155 Dorr, P., Westby, M., Dobbs, S., Maraviroc (UK-427,857), a potent, orally bioavailable, and selective small-molecule inhibitor of chemokine receptor CCR5 with broad-spectrum anti-human immunodeficiency virus type 1 activity (2005) Antimicrobial Agents and Chemotherapy, 49 (11), pp. 4721-4732 Karaali, Z.E., Sozen, S., Yurdum, M., Effect of genetic variants of chemokine receptors on the development of myocardial infarction in Turkish population (2010) Molecular Biology Reports, 37 (7), pp. 3615-3619 Zhao, Q., Dual targeting of CCR2 and CCR5: Therapeutic potential for immunologic and cardiovascular diseases (2010) Journal of Leukocyte Biology, 88 (1), pp. 41-55 Zapico, I., Coto, E., Rodríguez, A., Alvarez, C., Torre, J.C., Alvarez, V., CCR5 (chemokine receptor-5) DNA-polymorphism influences the severity of rheumatoid arthritis (2000) Genes & Immunity, 1 (4), pp. 288-289 Zúñiga, J.A., Villareal-Garza, C., Flores, E., Biological relevance of the polymorphism in the CCR5 gene in refractory and non-refractory rheumatoid arthritis in Mexicans (2003) Clinical and Experimental Rheumatology, 21 (3), pp. 351-354 Petrek, M., Cermáková, Z., Hutyrová, B., CC chemokine receptor 5 and interleukin-1 receptor antagonist gene polymorphisms in patients with primary Sjögren's syndrome (2002) Clinical and Experimental Rheumatology, 20 (5), pp. 701-703 Srivastava, P., Helms, P.J., Stewart, D., Main, M., Russell, G., Association of CCR5δ32 with reduced risk of childhood but not adult asthma (2003) Thorax, 58 (3), pp. 222-226 Vargas, A.E., Da Silva, M.A.L., Silla, L., Chies, J.A.B., Polymorphisms of chemokine receptors and eNOS in Brazilian patients with sickle cell disease (2005) Tissue Antigens, 66 (6), pp. 683-690