STUDY OF SOME PHYSIOLOGICAL VARIABLES RELATED TO GOUT AND THE ROLE OF POLYMORPHISM OF THE GLUT9 GENE IN DISEASE ETIOLOGY

Abstract

ABSTRACT : Gout is a disease caused by a disorder in the Purines metabolism and consequently an increase in uric acid and needle crystals from urate crystal that precipitates inside the joints causing severe pain.Gout is one of the most common autoimmune diseases and may be deposited monosodium urate crystal (MSU) crystals in the surrounding tissues and fluids. The current study aimed to demonstrate the relationship of gout to some physiological and genetic variables. Samples collected from private laboratories and external medical clinics for the period from 1/July/2018 to 1/September/2018. Samples consisted of 70 patient with high uric acid in the blood and the control group consisting of 30 volunteers did not have clinical evidence of a previous infection with a high level of uric acid. The age of patients and control groups ranged (20-70) years old. The study indicated significant differences in blood urea level between patients group and healthy group and serum creatinine and also indicated a positive correlation relationship P ≤ 0.05 between uric acid and both urea (Creatinine r = 0.2532), (TCHO r = 0.241) and (TG r = 0.2736). The association was negative between HDL and uric acid (HDL r = - 0.3028). In addition, the level of vitamin D decreased in the patient’s group compared to the healthy group and the relationship was negative with uric acid (Vit. D3 r = - 0.4162). The results of the genetic analysis of the SNPs of the SLC2A9 gene (rs2276961 rs2280205 rs3733591) showed two alleles (A, G) and three genotypes (AA, GG and AG). The single nucleotide polymorphism appeared rs2280205 with one genotype of all samples (100% of all samples), while the AA and GG genotypes did not appear in all study samples, whereas rs3733591 with three genotypes appeared in the G alleles the highest frequency in the patients and healthy subjects samples. As for rs2276961, allele A appeared at the highest frequency in the patient sample compared to the healthy sample.