The role of protozoa-driven selection in shaping human genetic variability.
Protozoa exert a strong selective pressure in humans. The selection signatures left by these pathogens can be exploited to identify genetic modulators of infection susceptibility. We show that protozoa diversity in different geographic locations is a good measure of protozoa-driven selective pressure; protozoa diversity captured selection signatures at known malaria resistance loci and identified several selected single nucleotide polymorphisms in immune and hemolytic anemia genes. A genome-wide search enabled us to identify 5180 variants mapping to 1145 genes that are subjected to protozoa-driven selective pressure. We provide a genome-wide estimate of protozoa-driven selective pressure and identify candidate susceptibility genes for protozoa-borne diseases.
Pozzoli
Uberto
U
Scientific Institute IRCCS E. Medea, Bioinformatic Laboratory, Via don L. Monza 20, 23842 Bosisio Parini (LC), Italy.
Fumagalli
Matteo
M
Cagliani
Rachele
R
Comi
Giacomo P
GP
Bresolin
Nereo
N
Clerici
Mario
M
Sironi
Manuela
M
D000818:Animals; D014644:Genetic Variation; D015894:Genome, Human; D055106:Genome-Wide Association Study; D006801:Humans; D011528:Protozoan Infections / Q000235:genetics* / Q000469:parasitology; D012641:Selection, Genetic