Table 1.
Main demographic, biochemical, and genetic characteristics of the control (N = 53), asymptomatic hyperuricemic detected under 40 years of age (N = 72), asymptomatic hyperuricemic detected after 40 years of age (N = 22), intercritical gout with onset before 40 years of age (N = 115) and intercritical gout with onset after 40 years of age (n = 81) cohorts
| Categorical variables | Control subjects N = 53 | Asymptomatic hyperuricemia, detected under 40 years of age N = 72 | Asymptomatic hyperuricemia, detected after 40 years of age N = 22 | Intercritical gout, early onset under 40 years of age N = 115 | Intercritical gout, onset after 40 years of age N = 81 | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| N | % | N | % | N | % | N | % | N | % | Fisher test p-value | |
| Sex M/F | 35 / 18 | 66.0 / 34.0 | 60 / 12 | 83.3 / 16.7 | 13 / 9 | 59.1 / 40.9 | 108 / 7 | 93.9 / 6.1 | 69 / 12 | 85.2 / 14.8 | < 0.001 |
| Familial occurrence | - | - | 37 | 56.1 | 3 | 15.0 | 59 | 55.1 | 22 | 27.8 | < 0.001 |
| No treatment | 53 | 100.0 | 60 | 83.3 | 12 | 54.5 | 39 | 33.9 | 17 | 21.0 | < 0.001 |
| Allopurinol treatment | - | - | 12 | 16.7 | 10 | 45.5 | 64 | 55.7 | 56 | 69.1 | |
| Febuxostat treatment | - | - | 0 | 0.0 | 0 | 0.0 | 12 | 10.4 | 8 | 9.9 | |
| p.Q141Kb, MAF (Number of alleles/Allele frequency) | 5 | 5.7 | 35 | 24.3 | 6 | 13.6 | 75 | 32.6 | 37 | 22.8 | < 0.001 |
| Metabolic syndrome presenta | NA | NA | 2 | 3.2 | 6 | 27.3 | 13 | 11.8 | 18 | 23.1 | < 0.001 |
| Continuous variables | Median (IQR) | Range | Median (IQR) | Range | Median (IQR) | Range | Median (IQR) | Range | Median (IQR) | Range | Kruskall-Wallis test p-value |
| Age of onset, years | - | - | 15.0 (7.0) | 3–39 | 58.0 (17.5) | 42–76 | 30.0 (12.5) | 9–40 | 52.0 (12.2) | 41–84 | - |
| Current age, years | 32.0 (16.0) | 18–75 | 17.5 (10.5) | 3–48 | 61.0 (20.5) | 48–78 | 41.0 (15.0) | 11–69 | 60.0 (14.0) | 41–84 | < 0.001 |
| BMI | 23.6 (4.0) | 18.5–32 | 25.1 (6.7) | 13.6–43.6 | 30.2 (3.4) | 23.9–41 | 27.7 (5.3) | 19.3–50 | 28.8 (5.6) | 19.5–43.4 | < 0.001 |
| CRP, mg/l | 0.8 (1.2) | 0.2–8 | 1.1 (1.8) | 0.1–153.1 | 3.8 (6.8) | 1.1–37.9 | 2.7 (3.6) | 0.1–268 | 3.8 (5.9) | 0.3–224.4 | < 0.001 |
|
Serum uric acid, patients without treatment, µmol/l (N = 53 / 53 / 10 / 39 / 17) c |
338.0 (77.0) | 157–420 | 468.0 (111.0) | 361–831 | 451.5 (86.8) | 378–631 | 464.0 (106.0) | 181–685 | 469.0 (140.0) | 269–683 | < 0.001 |
|
Serum uric acid, patients with treatment, µmol/l (N = 0 / 12 / 9 / 75 / 64) c |
- | - | 470.0 (103.0) | 328–608 | 407.0 (82.0) | 354–487 | 418.0 (136.0) | 217–587 | 453.0 (148.8) | 167–647 | 0.499 |
| Serum creatinine, µmol/l | 78.0 (20.5) | 51–115 | 74.5 (26.0) | 14–140 | 83.0 (23.0) | 54–113 | 81.0 (17.8) | 47–213 | 81.0 (26.0) | 48–173 | 0.007 |
| Serum cholesterol, mmol/l | 4.7 (0.9) | 2.9–12.3 | 4.5 (1.4) | 2–9.5 | 5.6 (1.9) | 2.4–6.8 | 5.4 (1.4) | 2.7–10.7 | 5.4 (1.3) | 3–9.1 | < 0.001 |
| Serum triglycerides, µmol/l | 1.0 (0.8) | 0.4–3.5 | 1.4 (1.3) | 0.6–9.1 | 1.8 (1.5) | 0.8–5.5 | 1.9 (1.5) | 0.6–7.5 | 1.8 (1.5) | 0.5–6.1 | < 0.001 |
| Serum high-density lipoproteins, µmol/l | 1.4 (0.4) | 0.7–2 | 1.2 (0.4) | 0.6–2.1 | 1.3 (0.4) | 0.9–1.9 | 1.2 (0.4) | 0–2.3 | 1.2 (0.3) | 0.7–6.1 | 0.026 |
| Serum low-density lipoproteins, µmol/l | 2.8 (1.0) | 1.4–5.5 | 3.3 (1.3) | 1–6.9 | 3.2 (0.7) | 1.9–5.1 | 3.4 (1.0) | 0.2–9.9 | 3.3 (0.8) | 0.7–5.7 | 0.001 |
| Atherogenic index | 2.5 (1.2) | 1.4–6.4 | 2.6 (1.6) | 1.2–6 | 3.2 (1.3) | 1.6–4.6 | 3.5 (1.5) | 1.2–6.8 | 3.5 (1.6) | 1.3–7.4 | < 0.001 |
a Metabolic syndrome assessed using IDF definition; relevant data were not available for the control cohort
b plus other eight rare and two novel dysfunctional variants rs372192400, rs769734146, rs200894058, rs759726272, rs140207606, rs148475733, rs199976573, rs762248204, p.T421A, and p.I242T
c Serum uric acid measured at time of taking the analyzed sample. For 10 subjects (6 from asymptomatic hyperuricemia under 40 years group, 3 from asymptomatic hyperuricemia after 40 years group and 1 from early-onset intercritical gout group) serum uric acid measurements confirming their diagnostic status were available from different examinations only