Genetics of susceptibility to Plasmodium falciparum: from classical malaria resistance genes towards genome-wide association studies.

作者: F. VERRA , V.D. MANGANO , D. MODIANO

DOI: 10.1111/J.1365-3024.2009.01106.X

关键词: Genome-wide association studyHuman genomePlasmodium falciparumGenetic associationGeneticsImmunologyGenetic epidemiologyMalariaBiologyGenomeGenetic variation

摘要: Plasmodium falciparum represents one of the strongest selective forces on human genome. This stable and perennial pressure has contributed to progressive accumulation in exposed populations genetic adaptations malaria. Descriptive epidemiology provides initial step a logical procedure consequential phases spanning from identification genes involved resistance/susceptibility diseases, determination underlying mechanisms finally possible translation acquired knowledge new control tools. In malaria, rational development this strategy is traditionally based complementary interactions heterogeneous disciplines going vaccinology passing through genetics, pathogenesis immunology. New tools including expression profile analysis genome-wide association studies are recently available explore complex host-parasite co-evolution. Particularly, combination with large multi-centre initiatives can overcome limits previous results due local population dynamics. Thus, we anticipate substantial advances interpretation validation effects variation malaria susceptibility, thereby molecular protective immune responses pathogenesis.

参考文章(193)
M Rattazzi, L Bernini, M Siniscalco, B Latte, G Filippi, S Piomelli, P Meera Khan, Population genetics of haemoglobin variants, thalassaemia and glucose-6-phosphate dehydrogenase deficiency, with particular reference to the malaria hypothesis Bulletin of The World Health Organization. ,vol. 34, pp. 379- 393 ,(1966)
Cheng-Han Huang, Olga O. Blumenfeld, MNSs Blood Groups and Major Glycophorins Springer, Boston, MA. pp. 153- 188 ,(1995) , 10.1007/978-1-4757-9537-0_5
F Grant, G Parniczky, P Jilly, B Ringelhann, M K Hathorn, A new look at the protection of hemoglobin AS and AC genotypes against plasmodium falciparum infection: a census tract approach. American Journal of Human Genetics. ,vol. 28, pp. 270- 279 ,(1976)
Marina Cappadoro, Giuliana Giribaldi, Estella O'Brien, Franco Turrini, Franca Mannu, Daniela Ulliers, Gino Simula, Lucio Luzzatto, Paolo Arese, Early Phagocytosis of Glucose-6-Phosphate Dehydrogenase (G6PD)-Deficient Erythrocytes Parasitized by Plasmodium falciparum May Explain Malaria Protection in G6PD Deficiency Blood. ,vol. 92, pp. 2527- 2534 ,(1998) , 10.1182/BLOOD.V92.7.2527
J. B. S. Haldane, Disease and Evolution La Ricerca Scientifica. ,vol. 19, pp. 175- 187 ,(2006) , 10.1007/0-387-28295-5_9
Julian C Knight, Irina Udalova, Adrian VS Hill, Brian M Greenwood, Norbert Peshu, Kevin Marsh, Dominic Kwiatkowski, None, A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria Nature Genetics. ,vol. 22, pp. 145- 150 ,(1999) , 10.1038/9649
Ulrich Bienzle, AdetokunboO. Lucas, Olusola Ayeni, Lucio Luzzatto, GLUCOSE-6-PHOSPHATE DEHYDROGENASE AND MALARIA The Lancet. ,vol. 299, pp. 107- 110 ,(1972) , 10.1016/S0140-6736(72)90676-9
David Modiano, Gaia Luoni, Bienvenu Sodiomon Sirima, Jacques Simporé, Federica Verra, Amadou Konaté, Elena Rastrelli, Anna Olivieri, Carlo Calissano, Giacomo Maria Paganotti, Leila D'Urbano, Issa Sanou, Alphonse Sawadogo, Guido Modiano, Mario Coluzzi, Haemoglobin C protects against clinical Plasmodium falciparum malaria Nature. ,vol. 414, pp. 305- 308 ,(2001) , 10.1038/35104556
Louis H. Miller, Steven J. Mason, David F. Clyde, Mary H. McGinniss, The Resistance Factor to Plasmodium vivax in Blacks New England Journal of Medicine. ,vol. 295, pp. 302- 304 ,(1976) , 10.1056/NEJM197608052950602