Genetic signatures of strong recent positive selection at the lactase gene.

By Todd Bersaglieri, Pardis C Sabeti, Nick Patterson, T. Vanderploeg, S. Schaffner, J. A. Drake, M. Rhodes, David Reich, Joel Hirschhorn. American Journal of Human Genetics, 2004

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Subfields: Genetics

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Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes (2007, background): “The TLR1 nsSNP was even more stratified than the three nsSNPs analyzed in the well-established geographically variable lactase persistence gene ( LCT ) ( Supplementary Table 4 ), which has been under recent selection to allow adult consumption of cows' mil”
Principal components analysis corrects for stratification in genome-wide association studies (2006, background): “80 in European populations because of positive selectio”
Signals of recent positive selection in a worldwide sample of human populations. (2009, background): “…involved in skin pigmentation (Voight et al. 2006; Sabeti et al. 2007; Williamson et al. 2007); EDAR, involved in hair morphology (Kelley et al. 2006; Fujimoto et al. 2008; Mou et al. 2008); and LCT, at which variants under selection contribute to lactase persistence (Bersaglieri et al. 2004).”
Genetic determinants of hair, eye and skin pigmentation in Europeans (2007, background): “Third, the gene encoding lactase is well described and has a large degree of variation between population”