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 (%).