Hardwick R. J. auteur aut IRD Ménard A. auteur aut IRD Sironi M. auteur aut IRD Milet Jacqueline auteur aut IRD Garcia André auteur aut IRD Sese C. auteur aut IRD Yang F. T. auteur aut IRD Fu B. Y. auteur aut IRD Courtin David auteur aut IRD Hollox E. J. auteur aut IRD text journalArticle eng text/pdf born digital access Haptoglobin, coded by the HP gene, is a plasma protein that acts as a scavenger for free heme, and haptoglobin-related protein (coded by the HPR gene) forms part of the trypanolytic factor TLF-1, together with apolipoprotein L1 (ApoL1). We analyse the polymorphic small intragenic duplication of the HP gene, with alleles Hp1 and Hp2, in 52 populations, and find no evidence for natural selection either from extended haplotype analysis or from correlation with pathogen richness matrices. Using fiber-FISH, the paralog ratio test, and array-CGH data, we also confirm that the HPR gene is copy number variable, with duplication of the whole HPR gene at polymorphic frequencies in west and central Africa, up to an allele frequency of 15 %. The geographical distribution of the HPR duplication allele overlaps the region where the pathogen causing chronic human African trypanosomiasis, Trypanosoma brucei gambiense, is endemic. The HPR duplication has occurred on one SNP haplotype, but there is no strong evidence of extended homozygosity, a characteristic of recent natural selection. The HPR duplication shows a slight, non-significant undertransmission to human African trypanosomiasis-affected children of unaffected parents in the Democratic Republic of Congo. However, taken together with alleles of APOL1, there is an overall significant undertransmission of putative protective alleles to human African trypanosomiasis-affected children. specialized 052 050 020 133 1 69-83 2014 0340-6717 https://www.documentation.ird.fr/hor/fdi:010061445 10.1007/s00439-013-1352-x 0340-6717 [F B010061445] https://www.documentation.ird.fr/hor/fdi:010061445 https://www.documentation.ird.fr/intranet/publi/2014/02/010061445.pdf Accès réservé (Intranet de l'IRD) IRD - Base Horizon / Pleins textes 2014-03-03 2017-08-23 fdi:010061445 fre