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NRAMP 1 and resistance to intracellular pathogens

Philippe Gros,Erwin Schurr-2003-12-22-Cambridge University Press eBooks
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TL;DRAbstract

The role of genetic factors in predisposition to infectious diseases has long been recognised in humans (reviewed by Cooke and Hill, 2001), and some infections such as tuberculosis and leprosy were long believed to be inheritable diseases. One of the clearest examples of the effect of the host genetic makeup on susceptibility to infection in humans is malaria (Kwiatkowski, 2000; Fortin et al., 2002), where the blood-borne parasite itself may have exerted a positive selective pressure for the retention of otherwise disease-associated alterations in certain erythrocyte proteins. Indeed, in sickle-cell anemia, heterozygosity for mutant hemoglobin alleles confers survival advantage over homozygosity for either mutant or wild-type alleles (Pasvol et al., 1978; Hill et al., 1991; Shear et al., 1993). On the other hand, functional polymorphisms affecting transcriptional control of key host response genes such as tumour necrosis factor-α (TNF-α) have been shown to drastically affect disease pr

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The role of genetic factors in predisposition to infectious diseases has long been recognised in humans (reviewed by Cooke and Hill, 2001), and some infections such as tuberculosis and leprosy were long believed to be inheritable diseases. One of the clearest examples of the effect of the host genetic makeup on susceptibility to infection in humans is malaria (Kwiatkowski, 2000; Fortin et al., 2002), where the blood-borne parasite itself may have exerted a positive selective pressure for the retention of otherwise disease-associated alterations in certain erythrocyte proteins. Indeed, in sickle-cell anemia, heterozygosity for mutant hemoglobin alleles confers survival advantage over homozygosity for either mutant or wild-type alleles (Pasvol et al., 1978; Hill et al., 1991; Shear et al., 1993). On the other hand, functional polymorphisms affecting transcriptional control of key host response genes such as tumour necrosis factor-α (TNF-α) have been shown to drastically affect disease pr

Keywords

BiologyPenetranceAlleleGeneticsDiseaseTuberculosisLoss of heterozygosityMalaria

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