Table 2.
Allele frequencies comparisons across populations.
| Gene (SNP) | Variant Type | Allele * | EUR % (n) |
ASW % (n) |
CHS % (n) |
JPT % (n) |
MXL % (n) |
Gout/Urate Effect (↑↓) |
|---|---|---|---|---|---|---|---|---|
|
ABCG2 (rs2231142 G > T) |
missense | G T |
90.6 (911) 9.4 (95) |
92.6 (113) 7.4 (9) |
74.3 (156) * 25.7 (54) |
67.8 (141) * 32.2 (67) |
79.7 (102) * 20.3 (26) |
↑ |
|
SLC2A9 (rs734553 G > T) |
intronic | G T |
24.5 (246) 75.5 (760) |
46.7 (57) * 53.3 (65) |
1.4 (3) * 98.6 (207) |
0.5 (1)* 95.5 (207) |
38.3 (49) * 61.7 (79) |
↑ |
|
SLC17A1 (rs1183201 T > A) |
intronic | A T |
46.1 (464) 53.9 (542) |
12.3 (15) * 87.7 (107) |
11.9 (25) * 88.1 (185) |
16.3 (34) * 83.7 (174) |
29.7 (38) * 70.3 (90) |
↓ |
|
SLC16A9 (rs1171614 C > T) |
intronic | T C |
24.2 (244) 75.8 (762) |
23 (28) 77 (94) |
— 100 (210)* |
— 100 (208)* |
10.2 (13) * 89.8 (115) |
↓ |
|
GCKR (rs1260326 C > T) |
missense |
T C |
41.1 (413) 58.9 (593) |
9.8 (12) * 90.2 (110) |
50 (105) 50 (105) |
58.2 (121) * 41.8 (87) |
35.2 (45) 64.8 (83) |
↑ |
|
SLC22A11 (rs2078267 C > T) |
non-coding transcript exon |
C T |
46.9 (472) 53.1 (534) |
85.2 (104) * 14.8 (18) |
98.1 (206) * 1.9 (4) |
98.1 (204) * 1.9 (4) |
75.8 (97) * 24.2 (31) |
↓ |
|
SLC22A12 (rs505802 C > T) |
intergenic | T C |
70.7 (711) 29.3 (295) |
35.2 (43) * 64.8 (79) |
29.9 (48) * 77.1 (162) |
17.8 (37) * 82.2 (171) |
50 (64) * 50 (64) |
↓ |
|
INHBC (rs3741414 C > T) |
3 prime UTR |
C T |
80.5 (810) 19.5 (196) |
86.9 (106) 13.1 (16) |
91.4 (192) * 8.6 (18) |
94.2 (196) * 5.8 (12) |
53.1 (68) * 46.9 (60) |
↓ |
|
RREB1 (rs675209 C > T) |
intergenic variant |
T C |
26.9 (271) 73.1 (735) |
42.6 (52) * 57.4 (70) |
91.4 (192) * 8.6 (18) |
92.3 (192) * 7.7 (16) |
47.7 (61) * 52.3 (67) |
↑ |
|
PDZK1 (rs12129861 C > T) |
intergenic |
C T |
54.1 (544) 45.9 (462) |
64.8 (79) 35.2 (43) |
78.1(164) * 21.9 (46) |
91.3 (190) * 8.7 (18) |
64.1 (82) 35.9 (46) |
↓ |
|
NRXN2 (rs478607 G > A) |
Intronic |
G A |
15.4 (155) 84.6 (851) |
46.7 (57) * 53.3 (65) |
17.1 (36) 82.9 (174) |
24.5 (51) * 75.5 (157) |
13.3 (17) 86.7 (111) |
↓ |
* Bolded letter allele indicates the risk allele, which is defined as the allele that is associated with baseline or higher risk for HU or gout. * Indicates statistical significance p < 0.0045 between population X and reference group (EUR). EUR: European, ASW: Africans in Southwest U.S; CHS: Southern Han-Chinese; JPT: Japanese in Tokyo, MXL; Mexicans in Los Angeles, CA, USA.