C3435T Polymorphism of the ABCB1 Gene in Polish Patients with Inflammatory Bowel Disease: A Case-Control and Meta-Analysis Study.
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SUBMITTER: Petryszyn P
PROVIDER: S-EPMC8465101 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundBreast cancer is the most common cause of cancer death among women. Several studies have investigated the relationship between the C3435T polymorphism of ABCB1 gene and risk of breast cancer; but the results are conflicting. In the present study, we sought to assess the relationship between the C3435T polymorphism in ABCB1 gene and the risk of breast cancer in a sample of the Moroccan population.MethodsA case control study was performed on 60 breast cancer patients and 68 healthy women. The ABCB1 C3435T polymorphism was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Furthermore, a meta-analysis including 16 studies with 6094 cases of breast cancer and 8646 controls was performed.ResultsGenotype frequencies were 50 % for CC, 33.3 % for CT and 16.7 % for TT in patients and 41.2 % for CC, 48.5 % for CT and 10.3 % for TT respectively in the control group. This difference was not statistically significant. The same trend as observed in the allele distribution between patients and controls (P = 0.84). Findings from the meta-analysis showed that the ABCB1 C3435T polymorphism was not associated with an increased risk of breast cancer in the dominant model (OR = 0.907; 95 % CI = 0.767-1.073; P = 0.25) as well as in the recessive model (OR = 1.181; 95 % CI = 0.973-1.434; P = 0.093) and in the allele contrast model (OR = 1.098; 95 % CI = 0.972-1.240; P = 0.133). However, the stratification of studies on ethnic basis showed that the TT genotype was associated with the risk of breast cancer in Asians (OR = 1.405; 95 % CI = 1.145-1.725; P = 0.001), Caucasians (OR = 1.093; 95 % CI = 1.001-1.194; P = 0.048) and North African (OR = 2.028; 95 % CI = 1.220-3.371; P = 0.006).ConclusionsWe have noted that the implication of C3435T variant on the risk of breast cancer was ethnicity-dependent. However, there is no evidence that ABCB1 C3435T polymorphism could play a role in susceptibility to breast cancer in Morocco. Further studies with a larger sample size, extended to other polymorphisms are needed to understand the influence of ABCB1 genetic variants on the risk of breast cancer.
| S-EPMC5007843 | biostudies-literature
Project description:Introduction and objectiveMany studies have been conducted on the association between the adenosine triphosphate-binding cassette, subfamily B, member 1 (ABCB1) gene C3435T polymorphism and leukemia risk, however, the previously published findings remain controversial. Thus, a meta-analysis was carried out to accurately evaluate the effect of this polymorphism on leukemia susceptibility.MethodsA computerized literature search was conducted of PubMed, Elsevier database, the China National Knowledge Infrastructure database, and Wanfang Database, to find published case-control studies exploring the relationship between ABCB1 C3435T polymorphism and leukemia risk. Odds ratios (ORs) with 95% confidence intervals (CIs) were applied to assess the strength of association.ResultsA total of 17 studies of 2,431 cases and 3,028 controls were included in this meta-analysis. The results of overall comparisons suggest that there is a significant association between ABCB1 C3435T polymorphism and leukemia risk under two genetic models (TT vs CC: OR=1.39, 95% CI=1.04-1.84, P=0.02; CT+TT vs CC: OR=1.20, 95% CI=1.06-1.36, P=0.004). In the subgroup analyses by ethnicity, age, and leukemia subtype, a significant association was found in Caucasian (CT vs CC: OR=1.22, 95% CI=1.03-1.45, P=0.02; TT vs CC: OR=1.34, 95% CI=1.10-1.64, P=0.004; CT+TT vs CC: OR=1.27, 95% CI=1.08-1.49, P=0.004), adult leukemia (CT vs CC: OR=1.46, 95% CI=1.17-1.83, P=0.001; CT+TT vs CC: OR=1.43, 95% CI=1.01-2.03, P=0.04), and lymphocytic leukemia (TT vs CC: OR=1.73, 95% CI=1.19-2.51, P=0.004; TT vs CC+CT: OR=1.62, 95% CI=1.10-2.38, P=0.01; CT+TT vs CC: OR=1.28, 95% CI=1.10-1.48, P=0.001).ConclusionThe meta-analysis suggests that ABCB1 C3435T polymorphism is associated with increased risk of leukemia.
| S-EPMC4427449 | biostudies-literature
Project description:BackgroundDespite the high prevalence of depression, the mechanism of the origin of this disease as well as the causes of resistance to therapy in some patients are still not fully understood. Increasingly, the possible role of genetic factors is considered. One of them is polymorphisms in the ABCB1 (MDR1) gene which encodes P-glycoprotein, responsible for the transport of xenobiotics, including antidepressant drugs, through the blood-brain barrier.MethodsC3435T was evaluated in 90 patients with recurrent depressive disorders (rDD). Genotyping was performed using a polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP).ResultsThe obtained results indicate that the TT genotype occurred more frequently among patients with rDD than in healthy volunteers (p=0.0441). Also, at least one C allele was present significantly less frequent in the study group than in healthy individuals (p=0.0300). The severity of depressive symptoms was higher among patient with the CC genotype in comparison with the other genotypes (p=0.0106) but treatment response to antidepressants was better in this group than among patients with CT or TT genotypes (p=0.0301). Likewise, patients with the T allele have a significantly lower severity of symptoms (p=0.0026) and decreased therapy effectiveness (p=0.0142) than C allele carriers.ConclusionsThis study suggests that C3435T polymorphisms in the ABCB1 gene are strongly associated with a predisposition to depression development, the severity of depressive symptoms and the effectiveness of therapy with using different groups of antidepressant agents.
| S-EPMC4661296 | biostudies-literature
Project description:A number of researches have evaluated the association between the ABCB1 polymorphism and the lipid-lowering response of statins, but the results have been inconclusive. To examine the lipid-lowering efficacy and safety associated with the ABCB1 C3435T polymorphism in hypercholesterolemic patients receiving statin, all available studies were included in this meta-analysis.A systematic search for eligible studies in the Cochrane library database, Scopus and PubMed was performed. Articles meeting the inclusion criteria were comprehensively reviewed, and the available data were accumulated by the meta-analysis.The results indicated that the comparisons of CC+CT vs. TT were associated with a significant elevation of the serum HDL-C levels after statin treatment (CC+CT vs. TT: MD, 2.46; 95 % CI, 0.36 to 4.55; P = 0.02), and the ABCB1 C3435T variant in homozygotes was correlated with decreases in LDL-C (CC vs. TT: MD, 2.29; 95 % CI, 0.37 to 4.20; P = 0.02) as well as TC (CC vs. TT: MD, 3.05; 95 % CI, 0.58 to 5.53; P = 0.02) in patients treated with statin. However, we did not observe a significant association in the TG group or an association between other genetic models serum lipid parameters. In addition, statin treatment more than 5 months led to a higher risk of muscle toxicity.The evidence from the meta-analysis demonstrated that the ABCB1 C3435T polymorphism may represent a pharmacogenomic biomarker for predicting treatment outcomes in patients on statins and that statin treatment for more than 5 months can increase the risk of myopathy.
| S-EPMC4594898 | biostudies-literature
Project description:BackgroundA number of investigators have evaluated the association between the ABCB1 polymorphism and clopidogrel responding, but the results have been inconclusive. To examine the risk of high platelet activity and poor clinical outcomes associated with the ABCB1 C3435T polymorphism in CAD patients on clopidogrel, all available studies were included in the present meta-analysis.MethodsWe performed a systematic search of PubMed, Scopus and the Cochrane library database for eligible studies. Articles meeting the inclusion criteria were comprehensively reviewed, and the available data were accumulated by the meta-analysis.ResultsIt was demonstrated that the ABCB1 C3435T variation was associated with the risk of early major adverse cardiovascular events (MACE) (T vs. C OR, 1.34; 95% CI, 1.10 to 1.62; P=0.003; TT vs. CC: OR, 1.77; 95% CI, 1.19 to 2.63; P=0.005; CT + TT vs.CC: OR, 1.48; 95% CI, 1.06 to 2.06; P=0.02) and the polymorphism was also associated with the risk of the long-term MACE in patients on clopidogrel LD 300 mg (T vs. C: OR, 1.28; 95% CI, 1.10 to 1.48; P=0.001; TT vs. CC: OR, 1.59; 95% CI, 1.19 to 2.13; P=0.002; CT + TT vs.CC: OR, 1.39; 95% CI, 1.08 to 1.79; P=0.01). The comparison of TT vs. CC was associated with a reduction in the outcome of bleeding (TT vs. CC: OR, 0.51; 95% CI, 0.40 to 0.66; P<0.00001). However, the association between ABCB1 C3435T polymorphism and platelet activity and other risk of poor clinical outcomes was not significant.ConclusionsThe evidence from our meta-analysis indicated that the ABCB1 C3435T polymorphism might be a risk factor for the MACE in patients on clopidogrel LD 300 mg, and that TT homozygotes decreased the outcome of bleeding compared with CC homozygotes.
| S-EPMC3467260 | biostudies-literature
Project description:PurposeEpilepsy is a disease of neurological character. Approximately one third of epileptic patients demonstrate a drug-resistant phenotype, which is associated with the development of drug-resistant epilepsy. The multidrug resistance protein 1 and glycoprotein P, encoded by MDR1, play a significant role in the transmembrane transport of anti-epileptic agents. Single nucleotide polymorphism C3435T (rs1045642) within MDR1 gene may be associated with an increased expression of P-gp which affects the levels of antiepileptic drugs in plasma. The presented studies analysed the association between C3435T polymorphism of MDR1 gene and the incidence of drug-resistant epilepsy in the population of Polish children.MethodsC3435T polymorphism of MDR1 gene was analysed by the high resolution melting technique in a group of patients with drug-resistant (n = 106) and drug-responsive epilepsy (n = 67), as well as in non-epileptic children (n = 98) hospitalised at the Department of Neurology, Polish Mother's Memorial Hospital in Lodz. Genotype and allele distributions were evaluated and their compatibility with the Hardy-Weinberg distribution was assessed by means of the χ(2) test. Genotype and allele evaluation, regarding their relationship with a given feature, was supported by an analysis of odds ratio and 95 % confidence interval, calculated according to the logistic regression model.ResultsAn association was observed between the incidence rate of DRE and the presence of C allele in C3435T polymorphism of MDR1 gene, which may enhance the risk of the disease. The T allele may then play a protective role. No differences were found in the studied groups, regarding either genotype or allele distribution in reference to patient's gender or concomitant diseases.ConclusionFollowing the obtained results, C3435T polymorphism of MDR1 gene may be connected with the incidence of drug-resistant epilepsy in the population of Polish children. ISRCTN ISRCTN73824458. Registered 28th September 2014.
| S-EPMC4938960 | biostudies-literature
Project description:BACKGROUND A previous study found that target organ damage in patients with hypertension was related to genetic factors. The aim of our study aim was to explore the association between the ABCB1 gene and renal function injury induced by hypertension. MATERIAL AND METHODS We used a case-control study design. Patients with hypertension were enrolled from our hospital between July 2015 and December 2015. Questionnaire data included personal information, life habits and behavior. Clinical data included blood routine examination and liver and renal function. We used restriction fragment length polymorphism methods for ABCB1 gene polymorphism detection. RESULTS There were 306 patients with hypertension included in the final analyses: 170 cases of hypertension and 136 controls. Compared to controls, the cases group had higher: drinking ratio (65.3% versus 52.9%, p=0.029), body mass index (p=0.032), systolic blood pressure (p<0.001), total cholesterol (p=0.004), blood urea nitrogen (p=0.029), creatinine (p=0.024), uric acid (p=0.011), estimated glomerular filtration rate level (p<0.001), and platelet level (p=0.003). There were no significant differences for others parameters. Genotype frequency distributions of rs1045642 were statistically significant between the two groups (?²=24.966, p<0.001). No differences were observed for the frequency distribution of rs10808072 and rs1922242 (?²=1.293, p=0.524; ?²=0.065, p=0.968). The multivariable logistics results found that patients with TT genotype had a higher risk for renal function injury for hypertensive patients compared to those with CC genotype (OR=3.47, 95% CI: 1.19-10.07). CONCLUSIONS Our results suggested that the rs1045642-T allele of the ABCB1 gene may be associated with increased risk for renal function injury in hypertensive patients.
| S-EPMC5560471 | biostudies-literature
Project description:BACKGROUND: The gene encoding CD14 has been proposed as an IBD-susceptibility gene with its polymorphism C-260T being widely evaluated, yet with conflicting results. The aim of this study was to investigate the association between this polymorphism and IBD by conducting a meta-analysis. METHODOLOGY/PRINCIPAL FINDINGS: Seventeen articles met the inclusion criteria, which included a total of 18 case-control studies, including 1900 ulcerative colitis (UC) cases, 2535 Crohn's disease (CD) cases, and 4004 controls. Data were analyzed using STATA software. Overall, association between C-260T polymorphism and increased UC risk was significant in allelic comparison (odds ratio [OR] ?=1.21, 95% confidence interval [CI]: 1.02-1.43; P=0.027), homozygote model (OR ?=1.44, 95% CI: 1.03-2.01; P=0.033), as well as dominant model (OR ?=1.36, 95% CI: 1.06-1.75; P=0.016). However, there was negative association between this polymorphism and CD risk across all genetic models. Subgroup analyses by ethnicity suggested the risk-conferring profiles of -260T allele and -260 TT genotype with UC in Asians, but not in Caucasians. There was a low probability of publication bias. CONCLUSIONS/SIGNIFICANCE: Expanding previous results of individual studies, our findings demonstrated that CD14 gene C-260T polymorphism might be a promising candidate marker in susceptibility to UC, especially in Asians.
| S-EPMC3458839 | biostudies-literature
Project description:The multidrug resistance gene 1(MDR1) C3435T polymorphism has been reported to be associated with colorectal cancer (CRC) risk in Asians, however the results were inconsistent. Thus, we performed a meta-analysis to generate large-scale evidence on the association between C3435T polymorphism and CRC risk in Asian populations.The PubMed, Web of Science, Embase, CNKI, and Chinese Biomedicine databases were searched up to January 15, 2017. The odd ratios (ORs) and 95% confidence intervals (95% CIs) were calculated by a fixed-effects or random-effects model. Sensitivity and cumulative meta-analysis were also performed.A total of 7 studies involving 4818 individuals were included in this pooled-analysis. The results suggested that persons carrying a T allele at the C3435T polymorphism had a significantly decreased risk of CRC in Asian population (T vs C: OR?=?0.897, 95%CI?=?0.826-0.975, P?=?.01), and the significant association was also observed in another 2 genetic models (TT vs CC: OR?=?0.721, 95%CI?=?0.605-0.861, P?<?.001; TT vs TC+CC: OR?=?0.679, 95%CI?=?0.579-0.795, P?<?.001). Moreover, the results of sensitivity and cumulative meta-analysis indicated the stable of our results. Finally, funnel plot and Egger's test showed no evidence of publication bias.In summary, this meta-analysis provided evidence that MDR1 C3435T polymorphism is associated with a decreased risk of CRC in Asian population.
| S-EPMC5758273 | biostudies-literature
Project description:BackgroundInflammatory bowel disease (IBD), which includes ulcerative colitis (UC) and Crohn's disease (CD), is a complex disease with increasing global incidence and prevalence. Although dairy consumption has been linked to various chronic diseases, its relationship with IBD remains uncertain. Additionally, there is a lack of data on this topic from Arab countries. This study aimed to investigate the association between dairy consumption and IBD through a case-control study among Arab populations, followed by a meta-analysis of available studies.MethodFirst, we used data from 158 UC patients, 244 CD patients, and 395 controls attending a polyclinic in Riyadh, Saudi Arabia. All participants were aged ≥ 18 years. Logistic regression was used to calculate the odds ratios (ORs) and 95% confidence intervals (95% CIs) of UC and CD for individuals who reported the highest versus the lowest frequencies of dairy consumption. Next, we conducted a meta-analysis, combining our results with those from other eligible studies after searching several databases. We used the I2 statistics to examine statistical heterogeneity across studies and the regression test for funnel plot asymmetry to assess publication bias.ResultsThe case-control study showed a negative association between frequent dairy consumption and UC (OR (95% CI) = 0.64 (0.41, 1.00)) but not CD (OR (95% CI) = 0.97 (0.65, 1.45)). In the meta-analysis, the highest frequencies of dairy consumption were negatively associated with both UC and CD: ORs (95% CIs) = 0.82 (0.68, 0.98) and 0.72 (0.59, 0.87), respectively. A moderate heterogeneity across studies was noticed in the UC meta-analysis (I2 = 59.58%) and the CD meta-analysis (I2 = 41.16%). No publication bias was detected.ConclusionsFrequent dairy consumption could protect against the development of UC and CD, suggesting potential dietary recommendations in the context of IBD prevention.
| S-EPMC11357007 | biostudies-literature