PDK2 and ABCG2 genes polymorphisms are correlated with blood glucose levels and uric acid in Tibetan gout patients

Ren, Yulin; Jin, Tianbo; Sun, Xiaoyan; Geng, Tongyu; Zhang, M X; Wang, L; Feng, Tao; Kang, Longli; Chen, C

doi:10.4238/gmr.15017447

Cited by 10 publications

(5 citation statements)

References 20 publications

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“…Statistical analyses were carried out using Microsoft Excel and SPSS 17.0 (SPSS, Chicago, IL, USA) software. Deviation from Hardy-Weinberg equilibrium (HWE) was tested for control subjects to measure the distribution of the polymorphism using a Chi-square test [ 42 ]. The Haploview software package (version 4.2) and SHEsis software platform ( http://analysis.bio-x.cn/myanalysis.php ) were used for analyses of linkage disequilibrium, haplotype construction [ 43 , 44 ].…”

Section: Methodsmentioning

confidence: 99%

Association of SNPs in the TIMP-2 gene and large artery atherosclerotic stroke in southern Chinese Han population

et al. 2017

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Tissue inhibitor of matrix metalloproteinase 2 (TIMP-2) regulates the extracellular matrix degradation, which involved in vascular remodeling and dysfunction, destabilization of atherosclerotic plaque and many other pathological processes. The rupture of atherosclerotic plaque is the trigger of Large artery atherosclerotic (LAA) stroke. We speculate that the Single nucleotide polymorphisms (SNPs) in TIMP-2 may have an association with LAA stroke. To prove this hypothesis, we conducted this case-control study. 250 LAA stroke patients and 250 healthy controls were collected for the analysis of TIMP-2 polymorphisms. Among six SNPs, we detected no deviation from Hardy-Weinberg equilibrium in control group. There was a significant difference in rs4789936 T allele frequency between patient and control groups (OR = 0.68, 95% CI = 0.51–0.91, P = 0.009), which means lower risk of LAA stroke. We observed the rs4789936 had a decreased risk of LAA stroke according to the codominant (OR = 0.64, 95% CI = 0.44–0.92, P = 0.026), dominant (OR = 0.62, 95% CI = 0.43-0.88, P = 0.008), overdominant (OR = 0.68, 95% CI = 0.48–0.98, P = 0.039), log-additive (OR = 0.68, 95% CI = 0.51–0.91, P = 0.009) models analyses. However, these findings could only validate under dominant model (OR = 0.65, 95% CI = 0.42–1.00, P = 0.049) after adjustment of gender and age. The results indicate a potential association between TIMP-2 variants and LAA stroke risk in southern Chinese Han population.

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Section: Methodsmentioning

confidence: 99%

Association of SNPs in the TIMP-2 gene and large artery atherosclerotic stroke in southern Chinese Han population

et al. 2017

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“… 59 , 60 Lack of association in African–Americans in GWAS is likely because of the reduced power because of lower allele frequency in African–Americans (≤3%) – there is nominal evidence for the association of the 141K variant with increased serum urate levels in African–Americans 18 and the increased risk of gout. 19 The Q141K variant (and other variants) has been associated with serum urate levels or hyperuricemia in other populations, for example, Tibetan 61 and Korean. 62 Uric acid transport assays in Xenopus oocytes showed that ABCG2 transports uric acid with the 141K variant causing ~50% reduced ability to secrete uric acid.…”

Section: Abcg2 Urate Control and Risk Of Goutmentioning

confidence: 99%

ABCG2 polymorphisms in gout: insights into disease susceptibility and treatment approaches

Cleophas¹,

Joosten²,

Stamp³

et al. 2017

PGPM

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As a result of the association of a common polymorphism (rs2231142, Q141K) in the ATP-binding cassette G2 (ABCG2) transporter with serum urate concentration in a genome-wide association study, it was revealed that ABCG2 is an important uric acid transporter. This review discusses the relevance of ABCG2 polymorphisms in gout, possible etiological mechanisms, and treatment approaches. The 141K ABCG2 urate-increasing variant causes instability in the nucleotide-binding domain, leading to decreased surface expression and function. Trafficking of the protein to the cell membrane is altered, and instead, there is an increased ubiquitin-mediated proteasomal degradation of the variant protein as well as sequestration into aggresomes. In humans, this leads to decreased uric acid excretion through both the kidney and the gut with the potential for a subsequent compensatory increase in renal urinary excretion. Not only does the 141K polymorphism in ABCG2 lead to hyperuricemia through renal overload and renal underexcretion, but emerging evidence indicates that it also increases the risk of acute gout in the presence of hyperuricemia, early onset of gout, tophi formation, and a poor response to allopurinol. In addition, there is some evidence that ABCG2 dysfunction may promote renal dysfunction in chronic kidney disease patients, increase systemic inflammatory responses, and decrease cellular autophagic responses to stress. These results suggest multiple benefits in restoring ABCG2 function. It has been shown that decreased ABCG2 141K surface expression and function can be restored with colchicine and other small molecule correctors. However, caution should be exercised in any application of these approaches given the role of surface ABCG2 in drug resistance.

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“…And exact test was carried out to confirm the compliance of SNP allele frequency with Hardy-Weinberg equilibrium (HWE). 19 The genotype and allele distributions were compared between the case and control groups by chi-square test. Associations of variations with individual NSCLC susceptibility, clinical characteristics and cisplatin combination chemotherapy response were examined using a logistic regression model.…”

Section: Discussionmentioning

confidence: 99%

RAD52 variants influence NSCLC risk in the Chinese population in a high altitude area

Chen

Ji³

et al. 2020

Ther Adv Respir Dis

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Background: Non-small cell lung cancer (NSCLC) accounts for approximately 80% of diagnosed lung cancer patients. RAD52 has been reported to be associated with the development of squamous cell lung carcinoma. In this study, we assessed the relationships of RAD52 genetic polymorphisms and NSCLC risk among the Chinese population at high altitude. Methods: Eight single nucleotide polymorphisms (SNPs) of RAD52 were genotyped in the Agena MassARRAY platform among 506 NSCLC patients and 510 healthy controls. We examined the association of RAD52 polymorphisms with NSCLC risk using odds ratios (ORs) and 95% confidence intervals (CIs) via multiple genetic models. Results: The rs10774474 A allele was related to a decreased risk of NSCLC in a high altitude population of China (OR = 0.82, 95% CI = 0.69–0.98, p = 0.032), whereas mutant alleles of rs1051672, rs7310449, rs1051669, rs6413436, rs4766377 and rs10849605 significantly increased NSCLC risk. Haplotype analysis showed that four haplotypes of RAD52 polymorphisms conferred an enhanced susceptibility to NSCLC (Ars1051672Grs7310449Trs1051669Ars6413436: OR = 1.29, p = 0.021; Grs1051672Ars7310449Crs1051669Grs6413436: OR = 1.21, p = 0.027; Grs4766377Crs12822733Trs10774474Crs10849605: OR = 1.26, p = 0.032; Ars4766377Crs12822733Ars10774474Trs10849605: OR = 1.21, p = 0.032). Conclusions: Our findings suggested the remarkable association of RAD52 polymorphisms with NSCLC risk among the Chinese population in a high altitude area. The reviews of this paper are available via the supplemental material section.

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PDK2 and ABCG2 genes polymorphisms are correlated with blood glucose levels and uric acid in Tibetan gout patients

Cited by 10 publications

References 20 publications

Association of SNPs in the TIMP-2 gene and large artery atherosclerotic stroke in southern Chinese Han population

Association of SNPs in the TIMP-2 gene and large artery atherosclerotic stroke in southern Chinese Han population

ABCG2 polymorphisms in gout: insights into disease susceptibility and treatment approaches

RAD52 variants influence NSCLC risk in the Chinese population in a high altitude area

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