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Table 1 Demographic, biochemical, and genetic characteristics of pediatric-onset (N = 31) and adult-onset (N = 203) cohorts

From: The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients

  Pediatric-onset (N = 31) Adult-onset (N = 203) Fisher’s test P value
N % N %
Sex M/F 26/5 83.9/16.1 174/29 85.7/14.3 0.786
Hyperuricemia/primary gout 17/14 58.1/41.9 41/162 79.8/21.2 < 0.0001
Familial occurrence 23 74.2 64 31.5 < 0.0001
Familial occurrence,
 1st degree 19 61.3 Not specified
 2nd degree 4 12.9
No treatment 15 48.4 36 17.7 < 0.0001
Allopurinol treatment 12 38.7 154 75.9
Febuxostat treatment 4 12.9 13 6.4
rs2231142
 GG 14 45.2 124 61.1 0.001
 GT 10 32.3 72 35.5
 TT 7 22.6 7 3.4
rs2231142, MAF 24 38.7 86 21.2 0.005
rs2231137, MAF ** 1 1.6 7 1.7 1.000
rs769734146, MAF 1 1.6 1 0.2 0.623
rs750972998, MAF 1 1.6 0 0.0 0.278
rs199854112, MAF 1 1.6 0 0.0 0.278
  Median (IQR) Range Median (IQR) Range Wilcoxon’s test P value
Age of onset, years 15.0 (4.0) 1–18 43.5 (24.2) 18–84 < 0.0001
Age now, years 19.0 (19.5) 3–59 55.0 (22.0) 19–90 < 0.0001
BMI now 25.1 (7.6) 16.0–41.0 29.0 (5.1) 19.5–50.0 < 0.0001
Max recorded SU, μmol/l
(N = 34/155) #
522.0 (144.0) 314–796 481.0 (101.0) 252–770 0.021
SU on treatment, μmol/l
(N = 17/176) #
419.0 (96.0) 300–608 371.5 (132.5) 252–770 0.091
FE-U on treatment
(N = 15/173) #
3.2 (1.7) 1.6–5.5 3.2 (1.7) 0.9–14.3 0.403
Treatment dose, mg *
(N = 15/168)
100 (200) 80–500 200 (200) 0–800 0.181
  1. #For some parameters, there were missing data; in case missing data amounted to 5% or more, the real N is mentioned in parentheses in the form Nadolescent/Nadult
  2. *Febuxostat dose was recomputed so that 40 mg febuxostat = 300 mg allopurinol
  3. **Of the functional ABCG2 variants explored in [15], the five mentioned in the table were present among adolescent-onset patients. The variants rs372192400, rs753759474, rs752626614, and p.S476P (not annotated) had MAF 0.0025 among adult-onset patients, and rs34783571 had MAF 0.0049 among adult-onset patients. Neither of them appeared among adolescent-onset patients (P values of the test for difference were equal to 1.000)