Table 3.
Population genetic statistics of the OCT1 gene for the different world regions
| World region | π (×10−4) | θ (×10−4) | Tajima’s D | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| All | LOF | Non-LOF | πLOF / πnon-LOF | All | LOF | Non-LOF | All | LOF | Non-LOF | |||
| Sub-Saharan Africa | 4.91 | 0.85 | 4.06 | 0.21 | 5.19 | 1.73 | 3.46 | −0.096 | −0.601 | 0.271 | ||
| North Africa and Middle East | 5.73 | 2.59 | 3.15 | 0.82 | 9.45 | 5.67 | 3.78 | −0.869 | −1.040 | −0.280 | ||
| Europe | 7.93 | 3.06 | 4.87 | 0.63 | 8.52 | 4.65 | 3.87 | −0.140 | −0.568 | 0.400 | ||
| Central Asia | 7.60 | 2.36 | 5.24 | 0.45 | 11.73 | 5.42 | 6.32 | −0.803 | −1.042 | −0.330 | ||
| East Asia and Oceania | 5.48 | 0.16 | 5.32 | 0.03 | 7.99 | 4.79 | 3.20 | −0.621 | −1.638* | 0.976 | ||
| America | 3.63 | 2.76 | 0.87 | 3.18 | 4.25 | 1.06 | 3.18 | −0.268 | 1.675 | −1.204 | ||
LOF, loss-of-function. Included are all variants causing a more than 50 % reduction in OCT1 activity for at least one substrate tested, that is, Ser14Phe, Ser29Leu, Arg61Cys, Cys88Arg, Ser189Leu, Arg206Cys, Thr245Met, Glu284Lys, Gly401Ser, Met420del, Ile449Thr, and Gly465Arg; non-LOF, non-loss-of-function. Included are all variants that did not affect or caused an increase in OCT1 activity, that is, Pro117Leu, Phe160Leu, Pro341Leu, Arg342His, Met408Val, Gly414Ala, and Arg488Met
*P <0.01