Frequency of the AGT Pro11Leu polymorphism in humans: Does diet matter?

[primary hyperoxaluria type 1]

The Pro 11 Leu 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 Pro 11 L eu 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 Pro 11 L eu 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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Diseases presenting "we could show that the worldwide genetic differentiation measured at the pro11leu polymorphism does not depart from neutrality" symptom

primary hyperoxaluria type 1

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