Distribution of the SLC2A9 genotype and its association with the uric acid level in patients with arterial hypertension and atrial fibrillation

Abstract

Asymptomatic hyperuricemia (HU) is widespread in the population and is one of the main risk factors for cardiovascular diseases. Evidence of numerous studies supports the association between increased uric acid (UA) levels and the risk of arterial hypertension (HTN) and/or atrial fibrillation (AF). One of the causes for an increase in UA levels and a significant risk factor for HU is the polymorphism of the SLC2A9 gene, a highly specific urate transporter in proximal renal tubule cells, encoding the GLUT9 protein.The aim of the study is to investigate the frequency of genotypes and alleles of the SLC2A9 gene rs734553 polymorphic variant and its association with the UA level in patients with HTN and AF, as well as in healthy individuals. 141 patients, including 50 healthy patients (group 1), 68 – with HTN and AF (group 2), 23 – with HTN (group 3) were examined.In the overall group of patients, the frequencies of the SLC2A9 gene rs734553 polymorphism were as follows: AA – 46.1 % (n = 65), AC – 36.2 % (n = 51), CC – 17.7 % (n = 25). According to the genotyping results of patients, in group 1 the AA genotype was 64 % (n = 32), AC – 22 % (n = 11), CC – 14 % (n = 7); in group 2 – 32.4 % (n = 22), 48.5 % (n = 33) and 19.1 % (n = 13); in group 3 47.8 % (n = 11), 30.4 % (n = 7) and 21.7 % (n = 5), respectively. The CC genotype patients (420 [413; 424] μmol/l) and the AC genotype patients (330 [284; 412] μmol/l) had higher uricemia values than those with the AA genotype (310 [281; 341] μmol/l) ( p = 0,003). HU with the AA genotype in group 2 was diagnosed in 2 (2.9 %) patients, with the AC genotype in 12 (17.6 %), and with the CC genotype in 10 (14.7 %) patients; in group 3 – 1 (4.3 %), 1 (4.3 %) and 3 (13 %), respectively. One patient (2 %) with HU in group 1 had the CC genotype.The distribution of genotype and allele frequencies of the SLC2A9 gene rs734553 polymorphic variant and its association with the UA level in patients with HTN and AF, as well as in healthy individuals were established. In patients with HTN and AF, the AC genotype occurred 3 times more often and the CC genotype occurred 2 times more often than in healthy patients. HU occurred significantly more often ( р = 0.003) in the group of patients with HTN and AF and the CC genotype, as well as in patients with the CC genotype.