Variability of innate immune system genes in Native American populations—relationship with history and epidemiology

Abstract

Native American populations present similar levels of heterozygosity as those of other continents, but are different from Africans in the frequency of polymorphisms of innate immune genes. This higher differentiation is probably due to demographic processes that occurred during the out-of-Africa event.

The role of variants from the innate immune system genes in tuberculosis and skin test response in a Native American population

“…Thus our results add important knowledge about the TB epidemiology of Native American populations. Moreover, the results observed in the present study for the association between CR1 and TLR9 variants and susceptibility to TB can be generalized to other populations, since for these markers no loss of variability was observed among the Aché [7] Conflicts of interest: The authors declare no conflict of interest. …”

“…The Aché population was the one with the lowest observed heterozygosity among the Native American populations studied for the above mentioned markers. However, it has been shown that for genes of the innate immune system, heterozygosity in the Aché did not differ significantly when compared to those of other Native American populations [7]. Moreover, Native American 6 populations present similar levels of heterozygosity in these genes as compared to those of other continents, probably due to their central role in immune response development [7].…”

“…This differential susceptibility is usually explained by the nontraditional variability in the HLA/KIR, adaptive and innate immune systems genes [4][5][6][7]. The reduced variability in the HLA system was associated with higher purified protein derivative skin test response (PPD) reaction in the Aché population [8].…”

“…Genomic DNA, genotyping procedures, and polymorphism frequencies have been described elsewhere [7]. In that study 14 variants were investigated, but for association analyses presented here only 8 SNPs were selected based on minor allele frequencies (MAF) >0.15.…”

Polymorphisms of ADME-related genes and their implications for drug safety and efficacy in Amazonian Amerindians

“…into its traditional lifestyles. It nevertheless seems likely that distinct patterns of toxicity and response to pharmacological therapies will be found in this ethnic group in comparison with other populations 15,16 . However, genomic studies of pharmacogenetic biomarkers are extremely rare in Amazonian Amerindian populations.…”