Frequency of the AGT Pro11Leu Polymorphism in Humans: does Diet Matter?

Authors

  • Laure Ségurel,

    Corresponding author
    1. Muséum National d’Histoire Naturelle–Centre National de la Recherche Scientifique–Université Paris Diderot-Paris 7, UMR 7206 Éco-Anthropologie et Ethnobiologie, CP 139, 57 rue Cuvier, 75231 Paris Cedex 05, France
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  • Sophie Lafosse,

    1. Muséum National d’Histoire Naturelle–Centre National de la Recherche Scientifique–Université Paris Diderot-Paris 7, UMR 7206 Éco-Anthropologie et Ethnobiologie, CP 139, 57 rue Cuvier, 75231 Paris Cedex 05, France
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  • Evelyne Heyer,

    1. Muséum National d’Histoire Naturelle–Centre National de la Recherche Scientifique–Université Paris Diderot-Paris 7, UMR 7206 Éco-Anthropologie et Ethnobiologie, CP 139, 57 rue Cuvier, 75231 Paris Cedex 05, France
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  • Renaud Vitalis

    1. Muséum National d’Histoire Naturelle–Centre National de la Recherche Scientifique–Université Paris Diderot-Paris 7, UMR 7206 Éco-Anthropologie et Ethnobiologie, CP 139, 57 rue Cuvier, 75231 Paris Cedex 05, France
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    • Present address: Institut National de la Recherche Agronomique (INRA), UMR CBGP (INRA–IRD–CIRAD–Montpellier SupAgro), Campus International de Baillarguet, CS 30016, 34988 Montferrier-sur-Lez, France


Corresponding author: Laure Ségurel, Muséum National d’Histoire Naturelle–Centre National de la Recherche Scientifique– Université Paris 7, UMR 7206 Éco-Anthropologie et Ethnobiologie, CP 139, 57 rue Cuvier, 75231 Paris Cedex 05, France. Tel: +33 (0)1 40 79 81 65; Fax: +33 (0)1 40 79 38 91; E-mail: lsegurel@mnhn.fr

Summary

The Pro11Leu substitution in the AGXT gene, which causes primary hyperoxaluria type 1, is found with high frequency in some human populations (e.g., 5–20% in Caucasians). It has been suggested that this detrimental mutation could have been positively selected in populations with a meat-rich diet. In order to test this hypothesis, we investigated the occurrence of Pro11Leu in both herder and agriculturalist populations from Central Asia. We found a lower frequency of this detrimental mutation in herders, whose diet is more meat-rich, as compared to agriculturalists, which therefore challenges the universality of the previous claim. Furthermore, when combining our original data with previously published results, we could show that the worldwide genetic differentiation measured at the Pro11Leu polymorphism does not depart from neutrality. Hence, the distribution of the variation observed in the AGXT gene could be due to demographic history, rather than local adaptation to diet.

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