|Title||Frequency of the AGT Pro11Leu Polymorphism in Humans: does Diet Matter?|
|Publication Type||Journal Article|
|Year of Publication||2010|
|Authors||Ségurel, L, Lafosse, S, Heyer, E, Vitalis, R|
|Journal||Annals of Human Genetics|
|Pagination||57 - 64|
|Keywords||agriculture, Central Asia, diet, genetics, pastoralism|
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.
Frequency of the AGT Pro11Leu Polymorphism in Humans: does Diet Matter?
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