Prevalence of hyperuricemia among the Chinese population of the southeast coastal region and association with single nucleotide polymorphisms in urate‑anion exchanger genes: SLC22A12, ABCG2 and SLC2A9

Abstract

Genome‑wide association studies identified that a series of genes, including solute carrier family (SLC) 2 member 9 (SLC2A9), SLC 22 member 12 (SLC22A12) and ATP‑binding cassette sub‑family G member 2 (ABCG2) polymorphisms were associated with serum uric acid (SUA) levels in the present study. High incidence rates of hyperuricemia were reported in the Chinese population of the southeast coastal region; however, no evidence has confirmed the genetic association with SUA levels in this region. The present study aimed to investigate the association between uric acid levels and hyperuricemia, and genotypes of the Chinese population of the southeast coastal region. In the present study, a total of 1,056 healthy patients attending routine checkups were employed to investigate the incidence of hyperuricemia; 300 subjects were then randomly selected from the 1,056 patients for the identification of genetic polymorphisms of SLC2A9rs11722228, SLC22A12rs893006 and ABCG2rs2231142 via high‑resolution melting. The present study reported that the incidence rate of hyperuricemia was 32.6% (42.5% in males and 22.7% in females, respectively). The prevalence of ABCG2rs2231142 polymorphisms (CC, CA and AA) was 44.4, 44.8 and 11.8%, respectively; SLC2A9rs11722228 polymorphisms (CC, CT and TT) were reported to be 49.3, 40.3 and 10.3%, respectively. Additionally, SLC22A12rs893006 polymorphisms (CC, CT and TT) were determined to be 57.2, 38.7 and 4.1%, respectively. The SUA levels were observed to be statistically different among each investigated genotype of ABCG2rs2231142 (P=0.047). The A allele was significantly associated with an increased risk of hyperuricemia (odds ratio=2.405 and 1.133 for CA and AA, respectively). The present study reported that high incidence rates of hyperuricemia in the Chinese population of the southeast coastal region may be closely associated with the variants of ABCG2rs2231142. Whether polymorphisms of SLC2A9rs11722228 and SLC22A12rs893006 are involved in hyperuricemia require further investigation.

ABCG2 rs2231142 variant in hyperuricemia is modified by SLC2A9 and SLC22A12 polymorphisms and cardiovascular risk factors in an elderly community-dwelling population

“…In a single-locus analysis, the SLC22A12 SNP rs893006 was reported to be associated with HUA in Japanese men [13]. This locus was related to sUA levels only in males, but there was no significant association with HUA in males or females in the present study, which was in accordance with the findings of a previous study [15]. SNP rs3733591 in SLC2A9 was also identified as being associated with sUA levels and gout in the Han Chinese population [14], but the association was only significant in females in our study.…”

“…Three SNPs, including ABCG2 rs2231142, SLC2A9 rs3733591, and SLC22A12 rs893006, were selected based on previously reported associations with sUA levels, especially in Asian populations [8,[13][14][15]. The minor allele frequencies (MAF) of these selected SNPs were ≥ 5% in Chinese populations according to the 1000 Genomes Projects (http://www.internationalgenome.org/) database.…”

Function of Uric Acid Transporters and Their Inhibitors in Hyperuricaemia

“…Hyperuricaemia is defined increased SUA as above 7 mg/dl in men and above 6 mg/dl in women in many studies (Zhu et al, 2011;Bardin and Richette, 2014)). High intake of purine-rich foods (such as alcohol) or those that can lead to increased purine levels (such as fructose) can also contribute to hyperuricaemia (Xiao et al, 2018;Go et al, 2019;Hoogerland et al, 2020). Genetic variations induced by multiple factors are also the key cause of hyperuricaemia (Guo et al, 2005;Mount and Mandal, 2019).…”

“…At present, there have been many studies on the traditional treatment of hyperuricaemia (Yang et al, 2018). The discovery of urates transporters provides new ideas for the development of drugs for the research of hyperuricaemia.…”

Association of the Q141K polymorphism of the ABCG2 gene with the effectiveness of urate-lowering therapy in patients with gout (a pilot study)

“…Можно предположить, что частота полиморфных вариантов гена ABCG2 rs2231142 имеет этнические и популяционные особенности. Например, в популяции одного из регионов Китая частота генотипов CC составила 44,4%, CA -44,8%, а AA -11,8%, т. е. генотип АА выявлялся в 10 раз чаще, чем по нашим данным [20]. В популяции Тайваня, распределение генотипов составило 46,1; 44,8 и 9,1% соответственно [21].…”