Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-6bf8c574d5-vmclg Total loading time: 0 Render date: 2025-02-21T13:58:12.897Z Has data issue: false hasContentIssue false

5 - Genetics of Infection in Sub-Saharan Africa

What Can the Study of Mendelian Immunodeficiency Disorders Contribute?

Published online by Cambridge University Press:  02 December 2019

By
Melanie Newport
Edited by
Muntaser E. Ibrahim  and
Charles N. Rotimi
Muntaser E. Ibrahim
Affiliation:
University of Khartoum
Charles N. Rotimi
Affiliation:
National Human Genome Research Institute/NIH
Get access

Summary

While non-communicable diseases have overtaken infectious diseases as the leading cause of mortality and morbidity globally, the burden of infectious diseases remains disproportionately high in sub-Saharan Africa (SSA) compared to other regions. Despite improvements in the prevention and control of certain infectious diseases, driven in particular by the sixth Millennium Development Goal – to combat HIV/AIDS, malaria, and other diseases – the burden of infectious diseases remains high. In 2017 it was estimated that 1.18 million people died from tuberculosis (TB) and 619,800 from malaria (GBD 2017 Mortality and Causes of Death Collaborators, 2018). HIV/AIDS remains a major cause of premature death in SSA (954,500 deaths in 2017), despite the availability of effective anti-retroviral treatment. Despite gains in life expectancy in SSA due to reduction in diarrheal and lower respiratory tract infections in children, 808,900 died from lower respiratory tract infections, and 553,800 from diarrheal diseases, and 153,100 from meningitis in 2017.

Type
Chapter
Information
The Genetics of African Populations in Health and Disease , pp. 86 - 94
Publisher: Cambridge University Press
Print publication year: 2019

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Abel, L and Demenais, F (1988). Detection of major genes for susceptibility to leprosy and its subtypes in a Caribbean island: Desirade Island. Am J Hum Genet 42: 256–266.Google Scholar
Abel, L, Demenais, F, and Baule, M-S (1989). Genetic susceptibility to leprosy on a Caribbean island: linkage analysis with five markers. Int J Leprosy 57: 256–266.Google Scholar
Abubakar, I, Zignol, M, Falzon, D, et al. (2013). Drug-resistant tuberculosis: time for visionary political leadership. Lancet Infect Dis. DOI: 10.1016/S1473-3099(13)70030-6.CrossRefGoogle ScholarPubMed
Barbouche, MR, Mekki, N, Ben-Ali, M, and Ben-Mustapha, I (2017). Lessons from genetic studies of primary immunodeficiencies in a highly consanguineous population. Front Immunol 8: 737.CrossRefGoogle Scholar
Bittles, AH and Black, ML (2010). Evolution in health and medicine Sackler colloquium: consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci U S A 107(Suppl. 1): 1779–1786.CrossRefGoogle ScholarPubMed
Boisson-Dupuis, S, Bustamante, J, El-Baghdadi, J, et al. (2015). Inherited and acquired immunodeficiencies underlying tuberculosis in childhood. Immunol Rev 264: 103–120.Google Scholar
Bustamante, J, Boisson-Dupuis, S, Abel, L, and Casanova, JL (2014). Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-gamma immunity. Semin Immunol 26: 454–470.Google Scholar
Casanova, JL, Jouanguy, E, Lamhamedi, S, Blanche, S, and Fischer, A (1995). Immunological conditions of children with BCG disseminated infection. Lancet 346: 581.Google Scholar
Chakravartti, MR and Vogel, F (1973). A twin study on leprosy. In Becker, PE, Lenz, W, Vogel, F, and Wendt, GG, eds., Topics in Human Genetics, Georg Thieme, pp. 1–123.Google Scholar
Chong, JX, Buckingham, KJ, Jhangiani, SN, et al. (2015). The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities. Am J Hum Genet. DOI: 10.1016/j.ajhg.2015.06.009.Google Scholar
Comstock, G (1978). Tuberculosis in twins: a re-analysis of the Prophit survey. Am Rev Respir Dis 117: 621–624.Google Scholar
Dubos, R and Dubos, J (1952). Tuberculosis, Man and Society: the White Plague. Little, Brown and Co.Google Scholar
Dupuis, S, Doffinger, R, Picard, C, et al. (2000). Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion. Immunol Rev 178: 129–137.Google Scholar
Engbaek, HC (1964). Three cases in the same family of fatal infection with M. avium. Acta Tuberc Scand 45: 105–117.Google Scholar
Fineberg, HV (2014). Pandemic preparedness and response: lessons from the H1N1 influenza of 2009. N Engl J Med 370: 1335–1342.Google Scholar
GBD 2017 Mortality and Causes of Death Collaborators (2018). Global, regional, and national age-sex-specific mortality for 282 causes of death in 195 countries and territories, 1980-2017: a systematic analysis for the Global Burden of Disease Study 2017. Lancet 392: 1736–1788.Google Scholar
Haile, RWC, Iselius, L, Fine, PEM, and Morton, NE (1985). Segregation and linkage analysis of 72 leprosy pedigrees. Hum Hered 35: 43–52.Google Scholar
Holland, SM, Eisenstein, EM, Kuhns, DB, et al. (1994). Treatment of refractory disseminated nontuberculous mycobacterial infection with interferon gamma. N Engl J Med 330: 1348–1355.Google Scholar
Hotez, PJ, Molyneux, DH, Fenwick, A, et al. (2006). Incorporating a rapid-impact package for neglected tropical diseases with programs for HIV/AIDS, tuberculosis, and malaria. PLoS Medicine 3: e102.Google Scholar
Hotez, PJ, Fenwick, A, Savioli, L, and Molyneux, DH (2009). Rescuing the bottom billion through control of neglected tropical diseases. Lancet 373: 1570–1575.Google Scholar
Jouanguy, E, Altare, F, Lamhamedi, S, et al. (1996). Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N Engl J Med 335: 1956–1959.Google Scholar
Kallman, FJ and Reisner, D (1943a). Twin studies on genetic variations in resistance to tuberculosis. J Hered 34: 293–301.Google Scholar
Kallman, FJ and Reisner, D (1943b). Twin studies on the significance of genetic factors in tuberculosis. Am Rev Tuberculosis 47: 549–574.Google Scholar
Koch, R (1932). The etiology of tuberculosis. Am Rev Tuberculosis 25: 285–323.Google Scholar
Levin, M, Newport, S, D’souza, S, et al. (1995). Familial disseminated atypical mycobacterial infection in childhood: a mycobacterial susceptibility gene? Lancet 345: 79–83.Google Scholar
Liddle, GW, Bledsoe, T, and Coppage, WS (1963). A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Assoc Am Phys 76: 199–213.Google Scholar
Manry, J, Laval, G, Patin, E, et al. (2011). Evolutionary genetics evidence of an essential, nonredundant role of the IFN-gamma pathway in protective immunity. Hum Mutat 32: 633–642.Google Scholar
Martinez-Romero, C and Garcia-Sastre, A (2015). Against the clock towards new Ebola virus therapies. Virus Res. DOI: 10.1016/j.virusres.2015.05.025.Google Scholar
Mehra, NK (1990). Role of HLA linked factors in governing susceptibility to leprosy and tuberculosis. Trop Med Parasitol 41: 352–354.Google Scholar
Newport, MJ (2003). The genetics of nontuberculous mycobacterial infection. Exp Rev Mol Med 5: 1–13.Google Scholar
Newport, MJ (2013). The contribution of host genetics to TB disease. Curr Respir Med Rev 9: 156–162.Google Scholar
Newport, MJ, Huxley, CM, Huston, S, et al. (1996). A mutation in the interferon-gamma receptor gene and susceptibility to mycobacterial infections in man. N Engl J Med 335: 1941–1949.Google Scholar
Pitchappan, RM (1990). Genetics of tuberculosis susceptibility. Trop Med Parasitol 41: 355–356.Google Scholar
Prando, C, Samarina, A, Bustamante, J, et al. (2013). Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds. Medicine (Baltimore) 92: 109–122.CrossRefGoogle ScholarPubMed
Rawlinson, WD, Basten, A, Britton, WJ, and Serjeantson, SW (1988). Leprosy and immunity: genetics and immune function in multiple case families. Immunol Cell Biol 66: 9–21.CrossRefGoogle ScholarPubMed
Rees, DC, Williams, TN, and Gladwin, MT (2010). Sickle-cell disease. Lancet 376: 2018–2031.Google Scholar
Romdhane, L, Abdelhak, S, Research Unit on Molecular Investigation of Genetic Orphan Diseases, et al. (2011). Genetic diseases in the Tunisian population. Am J Med Genet A 155A: 238–267.Google Scholar
Samson, M, Libert, F, Doranz, BJ, et al. (1996). Resistance to HIV-1 infection in Caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. Nature 382: 722–725.Google Scholar
Serjeantson, SW (1983). HLA and susceptibility to leprosy. Immunol Rev 70: 89–112.Google Scholar
Shields, ED, Russell, DA, and Pericak-Vance, MA (1987). Genetic epidemiology of susceptibility to leprosy. J Clin Invest 79: 1139–1143.CrossRefGoogle ScholarPubMed
Simmonds, B (1963). Tuberculosis in Twins. Pitman Medical Publishing.Google Scholar
Simonetti, GD, Mohaupt, MG, and Bianchetti, MG (2012). Monogenic forms of hypertension. Eur J Pediatr 171: 1433–1439.CrossRefGoogle ScholarPubMed
Smith, DG (1979). The genetic hypothesis for susceptibility to lepromatous leprosy. Hum Genet 50: 163–177.Google Scholar
Smith, FB (1988). The Retreat of Tuberculosis 1850–1950. Croom Helm.Google Scholar
Stead, WW (1992). Genetics and resistance to tuberculosis. Ann Intern Med 116: 937–994.Google Scholar
Stead, WW, Senner, JW, Reddick, WT, and Lofgren, JP (1990). Racial differences in susceptibility to infection by Mycobacterium tuberculosis. N Engl J Med 322: 422–427.Google Scholar
Stein, CM, Zalwango, S, Chiunda, AB, et al. (2007). Linkage and association analysis of candidate genes for TB and TNFalpha cytokine expression: evidence for association with IFNGR1, IL-10, and TNF receptor 1 genes. Hum Genet 121: 663–673.Google Scholar
Takala-Harrison, S and Laufer, MK (2015). Antimalarial drug resistance in Africa: key lessons for the future. Ann N Y Acad Sci 1342: 62–67.Google Scholar
Tishkoff, SA, Reed, FA, Friedlaender, FR, et al. (2009). The genetic structure and history of Africans and African Americans. Science 324: 1035–1044.Google Scholar
Tournamille, C, Colin, Y, Cartron, JP, and Le Van, Kim C (1995). Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nat Genet 10: 224–228.Google Scholar
Uchiyama, N, Greene, GR, Warren, BJ, et al. (1981). Possible monocyte killing defect in familial atypical mycobacteriosis. J Pediatr 98: 785–788.Google Scholar
Van Eden, W and De Vries, RRP (1984). Occasional review: HLA and leprosy – a re-evaluation. Lepr Rev 55: 89–104.Google Scholar
Welch, SG, McGregor, IA, and Williams, K (1977). The Duffy blood group and malaria prevalence in Gambian West Africans. Trans R Soc Trop Med Hyg 71: 295–296.CrossRefGoogle ScholarPubMed
Wellcome Trust Case Control Consortium (2007). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447: 661–678.Google Scholar
Westby, M and van der Ryst, E (2005). CCR5 antagonists: host-targeted antivirals for the treatment of HIV infection. Antivir Chem Chemother 16: 339–354.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×