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Anthropoloy, genetics and peopling history
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Estella Poloni

Senior Lecturer Researcher

Population genetics, anthropology & pharmacogenomics

The extreme cultural diversity that characterizes our species stems from a creativity and dynamism that allowed our ancestors to settle and develop under all latitudes. In the group, we investigate the links between the history of human migrations and cultural innovations and the evolution of the genetic diversity of our species, particularly in regions of pharmacogenomic interest.

Dépt. de Génétique & Evolution
Laboratoire AGP
Quai Ernest-Ansermet 30
1205 Genève / Suisse
+41 22 379 69 77

Former students

Lucie Tournayre Master 1 2023

Youssef Tawfik Master 2022

Fanny Perret Master 2020

Johan Schulthess Master 2020

Reem Adem Master 2018

Dillenn Terumalai Master 2016

Virginie Chapuis Master 2015

Eliska Podgorna Visiting PhD 2014

Mélanie Arcangeli Master 2012

Fabio Redha Master

Rute Bucho Master 2004

Barbara Arredi Visiting PhD 2002

The complex history of migrations and cultural innovations of populations has probably left imprints in the current genome of our species, as evidenced by its extensive phenotypic variability.

In the group we investigate these recent evolutionary imprints in ADME genes, which are of particular interest to clinicians due to their involvement in the absorption, distribution, metabolism and excretion of drugs. These genes are potential targets of natural or cultural selection due to their function taking place at the interface between the organism and its chemical and dietary environment.

Our main approaches involve the comparison, in large population samples, of diversity patterns analyzed at the genomic level and in specific genetic systems, such as the CYP2D6 polymorphism, examined with PacBio technology, or GWAS and genomic scan approaches to study population variability in pharmacogenomic traits.

To better understand the potential functional role of human polymorphisms in genomic regions involved in drug responses, we also investigate their variability in our closest relatives, the chimpanzees.

I participate in teaching in the biology section, at the bachelor and master in biology levels (master BIADB, bioinformatics and data analysis in biology), as well as in the ecology and evolution doctoral programme (ECOVO) of the doctoral school in life sciences (PSLS) from the University of Geneva:

  • Evolution (13B002)
  • Biostatistics (11M904 et 11B800)
  • Molecular population genetics (14B637)
  • Méthodologie de la recherche en biologie (14B751)
  • Master course in genetics, development, and evolution (14B017)

Links point to the University of Geneva Open Archive database.

Journal articles (peer reviewed)

  • Mouterde M, Daali Y, Rollason V, Čížková M, Mulugeta A, Al-Balushi KK, Fakis G, Konstantinidis T, Al-Thihli K, Cerná M, Makonnen E, Boukouvala S, Al-Yahyaee S, Yimer G, Černý V, Desmeules J, Poloni ES (2022) Joint analysis of phenotypic and genomic diversity sheds light on the evolution of xenobiotic metabolism in humans. Genome Biol Evol evac167.
  • Gloor Y, Matthey A, Sobo K, Mouterde M, Kosek E, Pickering G, Poloni ES, Cedraschi C, Ehret G, Desmeules JA (2022) Uncovering a genetic polymorphism located in Huntingtin Associated Protein 1 in modulation of central pain sensitization signaling pathways. Front Neurosci 16:807773.
  • Stojanović Marković A, Zajc Petranović M, Škobalj M, Poloni ES, Pichler Oberški L, Škarić-Jurić T, Peričić Salihović M (2022) From dietary adaptation in the past to drug metabolism of today: An example of NAT genes in the Croatian Roma. Am J Biol Anthropol 178(1):140-153.
  • Kulichová I, Mouterde M, Mokhtar MG, Diallo I, Tříska P, Diallo YM, Hofmanová Z, Poloni ES, Černý V (2021) Demographic history was a formative mechanism of the genetic structure for the taste receptor (TAS2R16) in human populations inhabiting Africa's Sahel/Savannah Belt. Am J Biol Anthropol 177(3):540-555.
  • Vangenot C, Nunes JM, Doxiadis GM, Poloni ES, Bontrop RE, De Groot NG, Sanchez-Mazas A (2020) Similar patterns of genetic diversity and linkage disequilibrium in Western chimpanzees (Pan troglodytes verus) and humans indicate highly conserved mechanisms of MHC molecular evolution. BMC Evol Biol 20(1):119.
  • Rollason V, Mouterde M, Daali Y, Čížková M, Priehodová E, Kulichová I, Posová H, Petanová J, Mulugeta A, Makonnen E, Al-Habsi A, Davidson R, Al-Balushi K, Al-Thihli K, Cerná M, Al-Yahyaee S, Černý V, Yimer G, Poloni ES, Desmeules J (2020) Safety of the Geneva cocktail, a cytochrome P450 and P-glycoprotein phenotyping cocktail, in healthy volunteers from three different geographic origins. Drug Saf 43:1181–1189.
  • Vicente M, Priehodová E, Diallo I, Podgorná E, Poloni ES, Černý V, Schlebusch CM (2019) Population history and genetic adaptation of the Fulani nomads: inferences from genome-wide data and the lactase persistence trait. BMC Genomics 20:915.
  • Vangenot C, Gagneux P, de Groot NG, Baumeyer A, Mouterde M, Crouau-Roy B, Darlu P, Sanchez-Mazas A, Sabbagh A, Poloni ES (2019) Humans and chimpanzees display opposite patterns of diversity in arylamine N-acetyltranferase genes. G3: Genes, Genomes, Genetics 9(7):2199-2224.
  • Černý V, Kulichová I, Poloni ES, Nunes JM, Pereira L, Mayor A, Sanchez-Mazas A (2018) Genetic history of the African Sahelian populations. HLA 91(3):153-166.
  • Priehodová E, Austerlitz F, Čížková M, Mokhtar MG, Poloni ES, Černý V (2017) The historical spread of Arabian Pastoralists to the eastern African Sahel evidenced by the lactase persistence -13,915*G allele and mitochondrial DNA. Am J Hum Biol 29(3):e22950.
  • Černý V, Čížková M, Poloni ES, Al-Meeri A, Mulligan C (2016) Comprehensive view of the population history of Arabia as inferred by mtDNA variation. Am J Phys Anthropol 159(4):607-16.
  • Podgorná E, Diallo I, Vangenot C, Sanchez-Mazas A, Sabbath A, Černý V, Poloni ES (2015) Variation in NAT2 acetylation phenotypes is associated with differences in food‐producing subsistence modes and ecoregions in Africa. BMC Evol Biol 15: 263.
  • Patillon B, Luisi P, Poloni ES, Boukouvala S, Darlu P, Genin E, Sabbagh A (2014) A homogenizing process of selection has maintained an "ultra-slow" acetylation NAT2 variant in humans. Hum Biol 86(3):185-214.
  • Nováčková J, Dreslerová D, Černý V, Poloni ES (2014) The place of Slovakian paternal diversity in the clinal European landscape. Ann Hum Biol 42(6):511-22.
  • Trejaut JA, Poloni ES, Yen J-C, Lai Y-H, Loo, J-H, Lee C-L, He C-L, Lin M (2014) Taiwan Y-chromosomal DNA variation and its relationship with Island Southeast Asia. BMC Genet 15(1):77.
  • Sabbagh A, Marin J, Veyssière C, Lecompte E, Boukouvala S, Poloni ES, Darlu P, Crouau-Roy B (2013) Rapid birth-and-death evolution of the xenobiotic metabolizing NAT gene family in vertebrates with evidence of adaptive selection. BMC Evol Biol 13:62.
  • Rotger M, Glass TR, Junier T, Lundgren J, Neaton JD, Poloni ES, Van't Wout AB, Lubomirov R, Colombo S, Martinez R, Rauch A, Günthard HF, Neuhaus J, Wentworth D, van Manen D, Gras LA, Schuitemaker H, Albini L, Torti C, Jacobson LP, Li X, Kingsley LA, Carli F, Guaraldi G, Ford ES, Sereti I, Hadigan C, Martinez E, Arnedo M, Egaña-Gorroño L, Gatell JM, Law M, Bendall C, Petoumenos K, Rockstroh J, Wasmuth JC, Kabamba K, Delforge M, De Wit S, Berger F, Mauss S, de Paz Sierra M, Losso M, Belloso WH, Leyes M, Campins A, Mondi A, De Luca A, Bernardino I, Barriuso-Iglesias M, Torrecilla-Rodriguez A, Gonzalez-Garcia J, Arribas JR, Fanti I, Gel S, Puig J, Negredo E, Gutierrez M, Domingo P, Fischer J, Fätkenheuer G, Alonso-Villaverde C, Macken A, Woo J, McGinty T, Mallon P, Mangili A, Skinner S, Wanke CA, Reiss P, Weber R, Bucher HC, Fellay J, Telenti A, Tarr PE; for the MAGNIFICENT Consortium; INSIGHT; the Swiss HIV Cohort Study (2013) Contribution of genetic background, traditional risk factors and HIV-related factors to coronary artery disease events in HIV-positive persons. Clin Infect Dis 57(1):112-21.
  • Silva NM, Pereira L, Poloni ES, Currat M (2012) Human neutral genetic variation and forensic STR data. PLoS One 7(11):e49666.
  • Sabbagh A, Darlu P, Crouau-Roy B, Poloni ES (2011) Arylamine N-Acetyltransferase 2 (NAT2) genetic diversity and traditional subsistence: a worldwide population survey. PLoS One 6(4):e18507.
  • Ortiz M, Poloni ES, Furrer H, Kovari H, Martinez R, Arnedo M, Elzi L, Bernasconi E, Vernazza P, Hirschel B, Cavassini M, Ledergerber B, Gunthard HF, Telenti A, Tarr PE, the Swiss HIV Cohort Study (2011) No longitudinal mitochondrial DNA sequence changes in HIV-infected individuals with and without lipoatrophy. J Infect Dis 203(5):620-624.
  • Currat M, Poloni ES, Sanchez-Mazas A. (2010) Human genetic differentiation across the Strait of Gibraltar. BMC Evol Biol 10:237.
  • Poloni ES, Naciri Y, Bucho R, Niba R, Kervaire B, Excoffier L, Langaney A, Sanchez-Mazas A. (2009) Genetic Evidence for Complexity in Ethnic Differentiation and History in East Africa. Ann Hum Genet 73(6):582-600.
  • Alshamali F, Pereira L, Budowle B, Poloni ES, Currat M (2009) Local Population Structure in Arabian Peninsula Revealed by Y-STR diversity. Hum Hered 68(1):45-54.
  • Sabbagh A, Langaney A, Darlu P, Gérard N, Krishnamoorthy R, Poloni ES (2008) Worldwide distribution of NAT2 diversity: implications for NAT2 evolutionary history. BMC Genet 9:21.
  • Sabbagh A, Darlu P, Langaney A, Poloni ES (2007) Haplotype tagging efficiency and tagSNP sets portability in worldwide populations in NAT2 gene (Marquage d'haplotypes du gène NAT2 : efficacité dans différentes régions du monde). Bull. et Mém. Soc. d'Anthropologie de Paris 19(3-4):233-241.
  • Arredi B, Poloni ES, Paracchini S, Zerjal T, Fathallah DM, Makrelouf M, Novelletto A, Tyler-Smith C (2004) A Predominantly Neolithic Origin for Y-Chromosomal DNA Variation in North Africa. Am J Hum Genet 75:338-345.
  • Quintana-Murci L, Veitia R, Fellous M, Semino O, Poloni ES (2003) Genetic structure of Mediterranean populations revealed by Y-chromosome haplotype analysis. Am J Phys Anthropol 121:157-171.
  • Belledi M, Poloni ES, Casalotti R, Conterio F, Mikerezi I, Tagliavini J, Excoffier L (2000) Maternal and paternal lineages in Albania and the genetic structure of Indo-European populations. Europ J Hum Genet 8:480-486.
  • Quintana-Murci L, Semino O, Poloni ES, Liu A, Van Gijn M, Passarino G, Brega A, et al (1999) Y-chromosome specific YCAII, DYS19 and YAP polymorphisms in human populations: a comparative study. Ann Hum Genet 63:153-166.
  • Poloni ES, Semino O, Passarino G, Santachiara-Benerecetti AS, Dupanloup I, Langaney A, Excoffier L (1997) Human genetic affinities for Y-chromosome p49a,f/TaqI haplotypes show strong correspondence with linguistics. Am J Hum Genet 61:1015-1035.
  • Roth M, Giraldo P, Hariti G, Poloni ES, Sanchez-Mazas A, Stefano GFD, Dugoujon J, et al (1997) Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal. Immunogenet 46:222-225.
  • Poloni ES, Excoffier L, Mountain JL, Langaney A, Cavalli-Sforza LL (1995) Nuclear DNA polymorphism in a Mandenka population from Senegal : Comparison with eight other human populations. Ann Hum Genet 59:43-61.
  • Sanchez-Mazas A, Pellegrini B, Poloni ES, Louis FJ (1994) Rhesus polymorphism in New Caledonia, II : Genetic comparison with other Oceanians. Gene Geogr 8:91-98.

Book chapters (peer reviewed)

  • Sabbagh A, Darlu P, Vangenot C, Poloni ES (2018) Arylamine N-Acetyltransferases in Anthropology. In: Laurieri N, Sim E, eds. Arylamine N-Acetyltransferases in Health and Disease: From Pharmacogenetics to Drug Discovery and Diagnostics. World Scientific, p. 165–193.
  • Sanchez-Mazas A, Poloni ES (2008) Genetic Diversity in Africa. In: Encyclopedia of Life Sciences eLS (Chichester: John Wiley & Sons).
  • Sanchez-Mazas A, Osipova L, Lin M, Dugoujon JM, Sagart L, Poloni, ES (2008) The GM genetic polymorphism in Taiwan aborigines: New data revealing remarkable differentiation patterns. In: Sanchez-Mazas A, Blench R, Ross M, Peiros I, Lin M, eds. Past human migrations in East Asia: matching archaeology, linguistics and genetics. Routledge, London and New York, p. 313-333.
  • Arredi B, Poloni ES, Tyler-Smith C (2007) The peopling of Europe. In: Crawford MH, ed. Anthropological Genetics: Theory, Methods and Applications. Cambridge: Cambridge University Press, p. 380-408.
  • Poloni ES, Sanchez-Mazas A, Jacques G, Sagart L (2005) Comparing linguistic and genetic relationships among East Asian populations: a study of the RH and GM polymorphisms. In: Sagart L, Blench R and Sanchez-Mazas A, eds. The peopling of East Asia : Putting together Archaeology, Linguistics and Genetics. London: RoutledgeCurzon, p. 250-272.
  • Sanchez-Mazas A, Poloni ES, Jacques G, Sagart L (2005) HLA genetic structure of East Asian populations: geography versus linguistics. In: Sagart L, Blench R, Sanchez-Mazas A, eds. The peopling of East Asia : Putting together Archaeology, Linguistics and Genetics. London: RoutledgeCurzon, p. 273-296.
  • Excoffier L, Poloni ES, Santachiara-Benerecetti S, Semino O, Langaney A (1996) The molecular diversity of the Niokholo Mandenkalu from Eastern Senegal: An insight into West Africa genetic history. In: Boyce AJ and Mascie-Taylor CGN, eds. Molecular Biology and Human Diversity. Cambridge: Cambridge University Press, p.141-155.

Book chapters & proceedings

Science for a non-specialized audience

French-speaking media RTS : Avis d'experts and Questions-Réponses

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