@article{fdi:010060532,
  title = {{I}dentifying darwinian selection acting on different human {APOL}1 variants among diverse {A}frican populations},
  author = {{K}o, {W}. {Y}. and {R}ajan, {P}. and {G}omez, {F}. and {S}cheinfeldt, {L}. and {A}n, {P}. and {W}inkler, {C}. {A}. and {F}roment, {A}lain and {N}yambo, {T}. {B}. and {O}mar, {S}. {A}. and {W}ambebe, {C}. and {R}anciaro, {A}. and {H}irbo, {J}. {B}. and {T}ishkoff, {S}. {A}.},
  editor = {},
  language = {{ENG}},
  abstract = {{D}isease susceptibility can arise as a consequence of adaptation to infectious disease. {R}ecent findings have suggested that higher rates of chronic kidney disease ({CKD}) in individuals with recent {A}frican ancestry might be attributed to two risk alleles ({G}1 and {G}2) at the serum-resistance-associated ({SRA})-interacting-domain-encoding region of {APOL}1. {T}hese two alleles appear to have arisen adaptively, possibly as a result of their protective effects against human {A}frican trypanosomiasis ({HAT}), or {A}frican sleeping sickness. {I}n order to explore the distribution of potential functional variation at {APOL}1, we studied nucleotide variation in 187 individuals across ten geographically and genetically diverse {A}frican ethnic groups with exposure to two {T}rypanosoma brucei subspecies that cause {HAT}. {W}e observed unusually high levels of nonsynonymous polymorphism in the regions encoding the functional domains that are required for lysing parasites. {W}hereas allele frequencies of {G}2 were similar across all populations (3%-8%), the {G}1 allele was only common in the {Y}oruba (39%). {A}dditionally, we identified a haplo type (termed {G}3) that contains a nonsynonymous change at the membrane-addressing-domain-encoding region of {APOL}1 and is present in all populations except for the {Y}oruba. {A}nalyses of long-range patterns of linkage disequilibrium indicate evidence of recent selection acting on the {G}3 haplotype in {F}ulani from {C}ameroon. {O}ur results indicate that the {G}1 and {G}2 variants in {APOL}1 are geographically restricted and that there might be other functional variants that could play a role in {HAT} resistance and {CKD} risk in {A}frican populations.},
  keywords = {{AFRIQUE}},
  booktitle = {},
  journal = {{A}merican {J}ournal of {H}uman {G}enetics},
  volume = {93},
  numero = {1},
  pages = {54--66},
  ISSN = {0002-9297},
  year = {2013},
  DOI = {10.1016/j.ajhg.2013.05.014},
  URL = {https://www.documentation.ird.fr/hor/fdi:010060532},
}