TABLE 5

Population variability of coding region polymorphisms in human organic anion transporters

The minor allele frequencies of reported nonsynonymous polymorphisms in selected ethnic groups are summarized. Population sizes are provided in parentheses after the allele frequencies.

Gene and Region	Amino Acid		rs Number	Functional Effect In Vitro	Allele Frequency in Different Ethnic Populations										References
Gene and Region	Change	Position	rs Number	Functional Effect In Vitro	J	K	SSA	W	SA	I-P	PI	MA	AsA	AfA	References
					% (n)
SLC22A6	L→P	7		N.A.	0 (10)		0 (9)		5 (10)	0 (9)	0 (7)				Xu et al., 2005
Exon 1	R→H	50		Decreased K_m and V_max for transport of adefovir, cidofovir, and tenofovir	0 (10)		6 (9)		0 (10)	0 (9)	0 (7)				Xu et al., 2005
	R→H	50		Decreased K_m and V_max for transport of adefovir, cidofovir, and tenofovir				0 (48)				1 (50)	0 (60)	3.2 (80)	Fujita et al., 2005
	P→L	104	rs11568627	No significant change in uptake of PAH, OAT, or MTX				0 (80)				0 (50)	0 (60)	0.6 (80)	Fujita et al., 2005
Exon 4	I→T	226	rs11568623	No significant change in uptake of PAH, OAT, or MTX				0.6 (80)				0 (50)	0 (60)	0 (80)	Fujita et al., 2005
	A→V	256	rs11568624	No significant change in uptake of PAH, OAT, or MTX				0.6 (80)				0 (50)	0 (60)	0.6 (80)	Fujita et al., 2005
Exon 5	R→W	293	rs45607933	No significant change in uptake of PAH, OAT, or MTX				0 (80)				0 (50)	0 (60)	1.9 (80)	Fujita et al., 2005
Exon 8	R→Q	454	rs11568634	No significant change in uptake of PAH, OAT, or MTX				0 (80)				0 (50)	0 (60)	0.6 (80)	Fujita et al., 2005
Exon 10	K→I	525		No change in K_m for transport of adefovir				0 (48)					0 (48)	2 (48)	Bleasby et al., 2005
SLC22A7
Exon 1	T→I	110	rs73625099	N.A.	0 (20)		6 (18)	0 (18)	0 (20)	0 (18)	0 (14)				Xu et al., 2005
Exon 3	V→I	192		N.A.	0 (20)		0 (18)	0 (18)	0 (20)	6 (18)	0 (14)				Xu et al., 2005
Exon 9	G→D	507		N.A.	5 (20)		0 (18)	0 (18)	0 (20)	0 (18)	0 (14)				Xu et al., 2005
SLC22A8
Exon 2	F→L	129	rs11568479	Function similar to the reference sequence				0 (160)				1 (100)	0 (120)	0 (160)	Erdman et al., 2006
Exon 3	R→S	149	rs45566039	Loss-of-function variants with respect to ES transport				0.6 (160)				0 (100)	0.8 (120)	0 (160)	Erdman et al., 2006
	I→V	175		N.A.	5 (20)		0 (18)	0 (18)	0 (20)	0 (18)	0 (14)				Xu et al., 2005
Exon 4	Q→Stop	239	rs11568496	Loss-of-function variants with respect to ES transport				0 (80)				0 (50)	0.8 (60)	0 (80)	Urban et al., 2006
Exon 5	I→R	260	rs11568493	Loss-of-function variants with respect to ES transport				0 (80)				0 (50)	0.8 (60)	0 (80)	Erdman et al., 2006; Urban et al., 2006
	R→W	277	rs11568492	Reduced function to transport ES and Cimetidine				0 (80)				0 (50)	0 (60)	0.7 (80)	Urban et al., 2006
	V→A	281	rs45438191	Function similar to the reference sequence				0 (160)				0 (100)	0 (120)	6 (160)	Erdman et al., 2006
Exon 6	I→F	305	rs11568482	Reduced ability to transport ES; increased uptake of cimetidine				0 (80)				1.1 (50)	3.5 (60)	0 (80)	Urban et al., 2006
	A→V	310	rs11568481	Function similar to the reference sequence				0.6 (160)				0 (100)	0 (120)	0 (160)	Erdman et al., 2006
Exon 7	A→V	389		Unlikely to be associated with differences in clearance of pravastatin	0.8 (120)										Nishizato et al., 2003
	A→S	399	rs11568497	Function similar to the reference sequence				0 (160)				1 (100)	0 (120)	0 (160)	Erdman et al., 2006
Exon 9	V→I	448	rs11568486	Function similar to the reference sequence				1.3 (160)				1 (100)	0 (120)	0.6 (160)	Erdman et al., 2006
SLC22A11
Exon 1	V→M	13	rs75976740	N.A.	0 (10)		6 (9)		0 (10)	0 (9)	0 (7)				Xu et al., 2005
	R→Stop	48	rs35008345	N.A.				6 (9)	0 (10)	0 (9)	0 (7)				Xu et al., 2005
	T→R	62		N.A.					0 (10)	6 (9)	0 (7)				Xu et al., 2005
Exon 2	V→M	155	rs61744144	N.A.			11 (9)		0 (10)	0 (9)	0 (7)				Xu et al., 2005
Exon 4	A→V	244		N.A.			-		0 (10)	0 (9)	7 (7)				Xu et al., 2005
Exon 5	E→K	278	rs147522958	N.A.	5 (10)		0 (9)		0 (10)	0 (9)	0 (7)				Xu et al., 2005
Exon 7	T→I	392		N.A.	0 (10)		6 (9)		0 (10)	0 (9)	0 (7)				Xu et al., 2005
SLC22A12
Exon 1	G→W	65	rs12800450	Urate transport activity is significantly decreased										0.01 (5820)	Tin et al., 2011
	R→H	90	rs121907896	Urate transport activity is significantly decreased	20 (10)										Cheong et al., 2005; Komatsuda et al., 2006
	R→H	90	rs121907896	Urate transport activity is significantly decreased		80 (5)
	R→C	92	rs144328876	N.A.				0.6 (652)							Graessler et al., 2006
Exon 2	V→M	138	rs149722479	Urate transport activity is significantly decreased	3.1 (32)										Ichida et al., 2004; Komatsuda et al., 2006
	H→H	142	rs11231825	Urate transport activity is significantly decreased	55 (20)		78 (18)	34.9 (652)	80 (20)	44 (18)	50 (14)				Xu et al., 2005; Graessler et al., 2006
	G→S	164		Urate transport activity is significantly decreased	1.6 (32)										Ichida et al., 2004
Exon 3	T→M	217	rs121907893	Urate transport activity is significantly decreased	1.6 (32)										Ichida et al., 2004
	W→Stop	258	rs121907892	Urate transport activity is significantly decreased	2.4 (1875)	80 (5)									Iwai et al., 2004; Cheong et al., 2005
Exon 5	Q→Stop	297		N.A.	1.6 (32)										Ichida et al., 2004
Exon 7	Q→L	382		Urate transport activity is significantly decreased	9.2 (38)										Wakida et al., 2005
	L→R	418	rs121907895	Urate transport activity is significantly decreased	2.6 (38)										Wakida et al., 2005

J, Japanese; K, Korean; SSA, Sub-Saharan African; W, White; SA, Southeast Asian; I-P, Indo-Pakistani; PI, Pacific Islander; MA, Mexican American; AsA, Asian American; AfA, African American; N.A., not available.