Global genetic analyses reveal strong inter-ethnic variability in the loss of activity of the organic cation transporter OCT1

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
World region	All	LOF	Non-LOF	π_LOF / π_non-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

ISSN: 1756-994X