dc.description.abstract |
The article presents modern data on the influence of the most common
polymorphisms APEX1 T444G and ABCG2 C421A RS2231142 of genes encoding proteins that
are involved in the renal urate transport system and, thus, associated with the level of uric acid
or gout. Characterization of polymorphisms APEX1 T444G and ABCG2 C421A RS2231142 of
genes: V253I, Q126X, Q141K was carried out. It was determined that the GCA and GTC
haplotypes of the Q126X and Q141K polymorphisms can be predictors of gout. The interrelation
of APEX1 T444G and ABCG2 C421A RS2231142 gene polymorphisms with the presence of
hyperuricemia depending on gender, components of metabolic syndrome, and response to
allopurinol was analyzed. Most genes associated with MK or gout in a genome-wide
association study encode proteins that are involved in the renal urate transport system, for
example, APEX1 T444G (solute carrier family 2, member 9) and ABCG2 C421A RS2231142 (ATPbinding
cassette, family G) are well-known genes for urate transporters responsible for their
reabsorption and excretion [13, 14, 27]. Thus, the determination of polymorphism - APEX1
T444G and ABCG2 C421A RS2231142 genes can help in diagnosing the risk of developing gout
and optimizing the schemes of uricosuric therapy in patients with refractory gout. |
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