Association between ABC family variants rs1800977, rs4149313, and rs1128503 and susceptibility to type 2 diabetes in a Chinese Han population

Yan, Rong; Luo, Jin-Yan; He, Xiaobo; Li, Shijun

doi:10.1177/0300060520941347

Cited by 7 publications

(5 citation statements)

References 30 publications

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“…Of these studies, 169 studies were excluded for the following reasons: data were on other polymorphisms ( n = 73); there was no ABCA1 polymorphism-grouped lipid outcome ( n = 52); there was no lipid outcome ( n = 19); the study was not a clinical trial ( n = 10); the sample size was less than 20 ( n = 8); the study involved children ( n = 4); there was an overlapping cohort ( n = 2); the study was not in English ( n = 1). Therefore, 18 articles were identified for this systematic review [ 13 , 14 , 15 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 ].…”

Section: Resultsmentioning

confidence: 99%

Association between ABCA1 Gene Polymorphisms and Plasma Lipid Concentration: A Systematic Review and Meta-Analysis

Shim

Yoon

Yee

et al. 2021

JPM

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Background: Although ABCA1 gene polymorphisms may be associated with the plasma lipid concentration, the literature has not shown a consistent pattern. In this study, we attempted to elucidate the association between the ABCA1 69C>T, 825V>I, and 230R>C polymorphisms and the plasma lipid concentration through a systematic review and meta-analysis. Methods: We selected studies published up to October 2020 in the PubMed, Web of Science, and Embase databases according to inclusion and exclusion criteria. The mean difference (MD) and 95% confidence interval (CI) were used to assess the relationship between the presence of ABCA1 69C>T, 825V>I, and 230R>C and plasma lipid levels. Meta-analysis was performed using Review Manager (version 5.3). Both Begg’s test and Egger’s regression test of the funnel plot were performed using R Studio software (version 3.6.0) to identify publication bias. Results: We analyzed the data on the ABCA1 69C>T polymorphism involving 14,843 subjects in 11 studies, 825V>I polymorphism involving 2580 subjects in 5 studies, and 230R>C polymorphism involving 4834 subjects in 4 studies. The T allele carriers in 69C>T, II carriers in 825V>I, and C carriers in 230R>C had lower high-density lipoprotein cholesterol levels; the MD (95% CI) was −0.05 mmol/L (95% CI: −0.09 to −0.01, p = 0.02), −0.05 mmol/L (95% CI: −0.09 to −0.00, p = 0.03), and −0.1 mmol/mL (95% CI: −0.12 to −0.07 mmol/L, p < 0.00001), respectively. In the case of 230R>C, the serum total cholesterol concentration of C carriers was significantly lower than that of RR carriers (−0.2 mmol/L, 95% CI: −0.3 to −0.11, p < 0.0001). Conclusion: This meta-analysis demonstrates that the ABCA1 69C>T, 825V>I, and 230R>C polymorphisms could affect the plasma lipid concentration. As the plasma lipid concentration may be related to various diseases, ABCA1 genotyping could be useful for the management of lipid levels.

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Section: Resultsmentioning

confidence: 99%

Association between ABCA1 Gene Polymorphisms and Plasma Lipid Concentration: A Systematic Review and Meta-Analysis

Shim

Yoon

Yee

et al. 2021

JPM

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“…All of these genotypes are likely to impact metformin’s pharmacokinetics. Ruicheng [ 25 ] found no association between the genotypes of rs1128503 in ABCB1 and diabetes risk in the Chinese Han population, adducing its intronic nature and introns’ characteristic function loss during evolution. Llaudó [ 26 ] described the effect of Pgp activity decrease in PMBC through Rho123 efflux among patients with transplanted kidneys receiving immunosuppressants, who were carriers of allele T/T of rs1045642, and therefore called them “low pumpers,” as opposed to C/C and C/T of rs1045642, the “high pumpers”.…”

Section: Discussionmentioning

confidence: 99%

Pharmacogenetics of Metformin Transporters Suggests No Association with Therapeutic Inefficacy among Diabetes Type 2 Mexican Patients

et al. 2022

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Mexico has been under official epidemiological alert due to diabetes since 2016. This study presents new information on the frequency and variants of metformin transporters OCT1, OCT2, OCT3, ABCB1, and CYP2C9 variants as well. It also reports the association with HbA1c control on 103 DMT2 patients. They were genotyped through real-time PCR (TaqMan assays) and grouped according to treatment: metformin and metformin + glibenclamide. Metformin plasmatic levels were determined through mass spectrometry. The analysis of HbA1c showed statistical significance across genotypes in polymorphisms rs72552763 (p = 0.022), rs622342 (p = 0.009), rs1128503 (p = 0.021), and rs2032582 (p = 0.009) within the monotherapy group. Bivariate analysis found no association between any polymorphism and HbA1c control. Two logistic regression models accounted for two diplotypes in OCT1 and ABCB1, including statistically significant covariates. The first model yielded significance in age (p = 0.026), treatment period [p = 0.001], BMI ≥ 25 kg/m2 (p = 0.043), and combined therapy (p < 0.001). There was no association with GAT/GAT of rs72552763 or A/A rs622342 in OCT1. The second model yielded significance in age (p = 0.017), treatment period (p = 0.001), BMI ≥ 25 kg/m2 (p = 0.042), and combined therapy (p < 0.001), finding no association with C/C of rs1128503 or G/G of rs2032582 in ABCB1. Our multinomial logistic regression results may benefit future predictive analyses in diabetic populations.

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“…It has been previously demonstrated that the expression of the ABCB1 gene is altered in different metabolic diseases including diabetes. 45 …”

Section: Discussionmentioning

confidence: 99%

Impact of the ABCB1 Drug Resistance Gene on the Risk Factors of Patients with COVID-19 and Its Relationship with the Drugs Used

Carrillo¹,

Peñafiel²,

Salas³

et al. 2022

IDR

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Objective In the last two years progress was made in molecular, physio pathological understanding and the form of transmission of COVID-19, and different therapeutic strategies have been explored to deal with the situation of the pandemic. However, the evaluation of certain genes that participate in the metabolism and transport of these drugs has not been fully explored. A lack of response to treatment and a lower survival have been observed that may be due to the presence of the ABCB1 drug resistance gene. Our research group analyzed whether the expression levels of the ABCB1 gene are associated with comorbidities, treatments, overall survival and risk of death in patients with severe COVID-19. Methods The expression levels of the ABCB1 gene were analyzed by RT-qPCR in 61 patients diagnosed with COVID-19. The association between the levels of expression, the risk variables and different treatments were determined by the Chi-Square test and the Fisher’s exact test. Global Survival (GS) was determined by the Kaplan–Meier method. The impact of high levels of expression and the risk of death was performed by odds ratio. Results The different risk variables showed that patients with either high or absent levels of ABCB1 gene expression presented a greater risk of death (OR 3.08, 95%, CI 1.02–9.26) as well as need for ventilatory support (OR 2.8, 95%, CI 0.98 −8.5). Patients with diabetes and COVID-19, treated with metformin, were associated with a lower risk of death (OR 1.11, 95%, CI 0.38–3.22). OS with respect to high or absent levels of expression of the ABCB1 gene was lower. Conclusion High levels or null expression of the ABCB1 gene are associated with a higher risk of death or progression of the disease, the use of metformin in patients with COVID-19 confers a lower risk of death.

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Association between ABC family variants rs1800977, rs4149313, and rs1128503 and susceptibility to type 2 diabetes in a Chinese Han population

Cited by 7 publications

References 30 publications

Association between ABCA1 Gene Polymorphisms and Plasma Lipid Concentration: A Systematic Review and Meta-Analysis

Association between ABCA1 Gene Polymorphisms and Plasma Lipid Concentration: A Systematic Review and Meta-Analysis

Pharmacogenetics of Metformin Transporters Suggests No Association with Therapeutic Inefficacy among Diabetes Type 2 Mexican Patients

Impact of the ABCB1 Drug Resistance Gene on the Risk Factors of Patients with COVID-19 and Its Relationship with the Drugs Used

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