Association of MBL2 Codon 34 Variant of Exon 1 with Severity of Tuberculosis in Paediatric Population of South Africa Advances in Life Science and Technology, Vol. 58
Main Article Content
Abstract
The host genetic factors contribute to determining the susceptibility of an individual to an infectious disease and this forms the basis of this study. Many gene polymorphisms have been implicated in disease development and progression.In this study, a genotypic case-control study was carried out to determine the effect of single nucleotide polymorphisms in MBL2 on tuberculosis on paediatrics drawn mainly from the Xhosa ethnic group, genotyped together with 366 adult controls from Xhosa population. The MBL2 non-synonymous SNP at codon 34 of exon 1 was found to be associated with the development of TB in the study population especially Xhosa ethnic group (p =0.00002).Therefore, codon 34 variant allele of MBL2 may be a risk factor in the development of TB in paediatric population.
Downloads
Article Details
Issue
Section
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
All materials deposited in the Afrischolar Discovery Repository are made openly available under the terms of the Creative Commons Attribution 4.0 International License (CC BY 4.0), unless otherwise indicated.
Under this license, users are free to:
- Share — copy and redistribute the material in any medium or format
- Adapt — remix, transform, and build upon the material for any purpose, including commercial use
These freedoms are granted provided that appropriate credit is given to the original author(s), a link to the license is included, and any changes made are clearly indicated. Attribution must not suggest endorsement by the author(s) or the repository.
Authors retain full copyright of their work while granting Afrischolar Discovery Repository a non-exclusive license to store, preserve, and disseminate the content for academic and public use.
Users must not apply legal terms or technological measures that legally restrict others from exercising the rights permitted by the license.
Where third-party content is included, users are responsible for ensuring compliance with the applicable licensing terms for such materials.
By submitting content to the Afrischolar Discovery Repository, contributors affirm that they have the right to distribute their work under the CC BY 4.0 license.
For full license details, visit: https://creativecommons.org/licenses/by/4.0/
How to Cite
References
Amirzagar, A. A., Yalda, A., Hajabolbaghi, M., Khosravi, F., Jabbari, H., Rezaei, N., Niknam, M. H., Ansari, B., Moradi, B., and Nikbin, B. 2004, Association ofHLA-DRB, DQA1, DQB1 alleles and haplotype frequency in Iranian patients with pulmonary tuberculosis, Int J Tuberc Lung Dis. 8(8)1017-21.
Awomoyi, A. A., Marchant, A., Howson, J. M., McAdam, K. P., Blackwell, J. M.and Newport, M. J. 2002, Interleukin-10, polymorphism in SLC11A (formerly NRAMP1), and susceptibility to tuberculosis, J Infect Dis 188(12): 1961.
Bellamy, R. 1998, Genetic susceptibility to tuberculosis in human populations, Thorax 53:588-593.
Bellamy, R., Ruwende, C., Corrah, T., McAdam, K. P., Whittle, H. C., and Hill, A. V. 1998, Variations in the NRAMP1 gene and susceptibility to tuberculosis in West Africans, N Engl J Med. 338(10):640-644.
Bellamy, R., Beyers, N., McAdam, K. P. W. J., Ruwende, C., Gie, R., Samaai, P., Bester, D., Meyer, M., Corrah, T., Collin, M., Camidge, D. R., Wilkinson, D., Hoal-van Helden, E., Whitle, H. C., Amos,W., van Helden, P., and Hill,A. V. S. 2000, Genetic susceptibility to tuberculosis in Africans: A genome-wide scan. PNAS 97(14):8005-8009.
Bellamy, R. 2003, Susceptibility to mycobacterial infections: the importance of host genetics. Genes Immun. 4: 4-11.
Casanova, J. L. 2001, Mendelian susceptibility to mycobacterial infection in man,SWISS MED WKLY 131: 445- 454.
Cooke, G. S., and Hill, A. V. S. 2001, Genetic susceptibility to human infectious disease Nature Reviews Genetics 2:967-977.
Delgado, J. C.,Baena, A. and Goldfeld A. E. 2002, Ethnic specific associations with pulmonary tuberculosis. J Infect Dis 186(10):1463-8.
Eisen, D. P. and Minchinton, R. M. 2003, Impact of mannose binding lectin on susceptibility to infectious diseases, Clin Infect Dis 37(11):1496-505.
Goldfeld, A. E., Delgado, J. C., Thim, S., Bozon, M. V., Uglialoro, A. M., Turbay, D,Cohen, C. and Yunis, E. J. 1998, Association of an HLA-DQ allele with clinical tuberculosis. J. Am. Med. Assoc. 279:226-228.
Hill, A. V. S. 2006, Aspects of Genetic Susceptibility to Human Infectious Diseases,Annu. Rev. Genet. 40:469-86.
Hoal, E. G. and Moeller, M. 2004, Host Genetics and Predisposition to TuberculosisCurrent Allergy & Clinical Immunology 17(4):160-165.
Hoal-van Helden, E. G., Epstein, J., Victor, T. C., Hon, D., Lewis, L., Beyers, N.,Zurakowski, D., Ezekowitz, R. A. B. and van Helden, P. D. 1999,Mannose Binding Protein B Allele Confers Protection against Tuberculous Meningitis. Pediatr Res 45:459-464.
Koch, A., Melbye, M., Sorensen, P., Homoc, P., Madsen, H. O., Molbak, K., Hansen, C. H., And Hahn, G. W. and Garred, P. 2001,Acute RespiratoryTract Infections and Mannose-Binding Lectin Insufficiency During Early Childhood. JAMA 285(10): 1316-1321.
Lio, D., Mario, V., Serauto, A.,Gioia, V., Scola, L., Crivivello, A., Forte, G. I., Colonna-Romano, G.,Candore, G. and Caruso, C. 2002, Genotypic Frequencies of the +874T-->A single nucleotide polymorphism in the firstintron of the interferon-gamma gene in a sample of Sicilian patients affected by tuberculosis. Eur T Immunogenet. 29(5):371-4.
Lipscombe, R. J., Sumiya, M., Hill, A. V. S., Lau, Y. L., Levinsky, R. J., Summerfield, J. A. and Turner, M. W. 1992, High frequencies in African and non-African populations of independent mutations in the mannosebinding protein gene. Human Molecular Genetics 1(9):709-715.
Lopez-Maderuelo, D., Arnalich, F., Serantes, R., Gonzalez, A., Codoceo, R., Madero, R., Vazquez, J. J., and Montiel, C. 2003, Interferon-γ and Interleukin-10 Gene Polymorphisms in Pulmonary Tuberculosis. American Journal of Respiratory and Critical Care Medicine. 167:970-975.
Madsen, H.O., Satz, M. L., Hogh, B., Sverjgaard, A. and Garred, P. 1998, DifferentMolecular Events Result in Low Protein Levels of Mannan-Binding Lectin Populations from Southeast Africa and South America. The Journal of Immunology. 3169-3175.
Mehra, N. K., Rajalingam, R., Mitra, D. K. et al. 1995, Variants of HLA-DR2/DR51group haplotypes and susceptibility to tuberculoid leprosy and pulmonary tuberculosis in Asian Indians. Int. J. Lepr. Other Mycobact. Dis. 63:241-248.
Modiano, D., Petrarca, V., Sirima, V. S., Nebie, I., Diallo, D., Esposito, F. and Coluzzi, M. 1996, Different response to Plasmodium Falciparum malaria inWest African sympatric ethnic groups. Proc. Natl. Acad. Sci. USA. 93:13206-13211.
Newton, C. R., Heptinstall, L. E., Powell, S. J., Summers, C., Kalsheker, N., Smith, J. C. and Markham, A. F. 1989, Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS) Nucleic Acids Research17(7):2503-2515.
Ozbas-Gerceker, F., Tezcan, I., Berkel, A. I., Ozkara, S., Ozcan, A., Ersoy, F., Sanal, O. and Ozguc, M. 2003, The effect of mannose-binding protein gene polymorphisms in recurrent respiratory system infections in children and lung tuberculosis. The Turkish Journal of Paediatrics 45:95-99.
Piertrantonio, T. and Schurr, E. 2005, Mouse models for the genetic study of tuberculosis susceptibility. BRIEFINGS IN FUNCTIONAL GENOMICSPROTEOMICS 4(3):277-292.
Ravikumar, M., Dheenadhayalan, V., Rajaram, K., Lakshmi, S. S., Paramasivan, C. N., Balakrishnan, K. and Pitchappan, R. M. 1999, Association of HLA-DRB1, DQB1 and DPB1 alleles with pulmonarytuberculosis in South India. Tuber. Lung Dis. 79, 309-317.
Rossouw, M., Nel, H. J., Cooke, G. S., van Helden, P. D. and Hoal, E. G. 2003,Association between tuberculosis and a polymorphic NFkappaB binding site in the interferon gamma gene. Lancet 361:1871-1872.
Ruskamp, J. M., Hoekstra, M. O., Rovers, M. M., Schilder, A. G. M., and Sanders,E. A. M. 2006, MannoseBinding Lectin and Upper Respiratory Tract Infections in Children and Adolescents. Arch Otolaryngol Head NeckSurg. 132:482-6.
Schurr, E. 2007, Is susceptibility to tuberculosis acquired or inherited? Journal ofInternal Medicine. 261:106- 111.
Segal, S. and Hill, A. V. S. 2003, Genetic susceptibility to infectious disease. Trends in Microbiology. 11(9):445-448.
Selvaraj, P., Narayan, P. R. and Reetha, A. M. 1999, Association of functional mutant homozygotes of the mannose binding protein gene with susceptibility to pulmonary tuberculosis in India. Tuber Lung Dis. 79:221-227.
Soborg, C., Madsen, H. O., Andersen, A. B., Lillebaek, T., Kok-Jensen, A. and Garred, P. 2003, MannoseBinding Lectin Polymorphisms in Clinical Tuberculosis. The Journal of Infectious Diseases 188:777-82.
Summerfield, J. A., Sumiya, M., Levin, M., Turner, M. W. 1997, Association of mutations in mannose binding protein with childhood infection in consecutive hospital series. BMJ 314:1229-32.
Tishkoff, S. A. and Williams, S. M. 2002, Genetic analysis of African populations:Human evolution and complex disease. Nature Reviews Genetics 3:611-621.
Turner, M. W., Dinan, L., Heatley, S., Jack, D. L., Boettcher, B., Lester, S., McCluskey, J. and Roberton, D. 2000, Restricted polymorphism of the mannose-binding lectin gene of indigenous Australians. Human MolecularGenetics 9(10):1481-1486.
World Health Organisation. 2006, Global tuberculosis control-surveillance, planning, and financing WHO
Report