Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout
Table 2
Identified nonsynonymous SLC22A11, SLC22A12,and SLC17A1 allelic variants, their mutant allele frequency (MAF) and overview of main biochemical parameters in the patient cohort.
Gene
Reference SNP number
Position CDS
Position AA
Variant allele hetero/homozygotes
Allelic variant MAF
Normo-uricemia control MAF
European MAF
Gender (patient identification)
Diagnosis
Familial occurrence
Age at examination (years)
Gout/hyperuricemia onset (years)
BMI at examination (−)
SUA without medication (µmol/L)
SUA with medication (µmol/L)
FEUA without medication (%)
FEUA with medication (%)
SLC22A11
rs144573306
c.1556C > T
p.P519L
1/0
0.004
N/A
0.001
Male (Patient 1)
Gout
No
18
16
27
655
300
4.31
1.64
SLC22A11
rs201209258
c.604G > A
p.V202M
1/0
0.004
0.003
0
Male (Patient 2)
Hyperuricemia
N/A
35
N/A
N/A
N/A
N/A
N/A
N/A
SLC22A11
rs75933978
c.1028G > T
p.R343L
1/0
0.004
0
0.002
Male (Patient 3)
Hyperuricemia
No
21
17
23
463
N/A
N/A
4.92
SLC22A13
rs72542450
c.47G > A
p.R16H
2/0
0.007
0.009
0.008
Female (Patient 4)
Gout
No
73
73
32
606
N/A
0.75
N/A
Male (Patient 5)
Gout
No
78
76
24
387
332
3.24
5.02
SLC22A13
rs113229654
c.305G > A
p.R102H
1/0
0.004
0.003
0.008
Male (Patient 6)
Hyperuricemia
No
61
58
32
467
483
2.76
5.14
SLC17A1
rs149708935
c.225G > T
p.W75C
1/0
0.004
N/A
0.001
Male (Patient 7)
Hyperuricemia
Yes
24
14
24
433
N/A
5.1
N/A
Only in this, patients were detected new allelic variants. Abbreviations: BMI, body mass index; SUA, serum uric acid level (µmol/L); FEUA, fraction excretion of uric acid (%).