ABCB1 gene polymorphisms and haplotype analysis in colorectal cancer

Pańczyk, Mariusz; Balcerczak, Ewa; Piaskowski, Sylwester; Jamroziak, Krzysztof; Pasz-Walczak, Grażyna; Mirowski, Marek

doi:10.1007/s00384-009-0724-0

Cited by 47 publications

(51 citation statements)

References 45 publications

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“…This was inconsistent with most other studies [13][14][15][16][17][18][19][20][21][22]. In this meta-analysis the results when stratified for ethnicity or population source, indicated no association between ABCB1 rs1045642 SNPs and CRC.…”

Section: Discussioncontrasting

confidence: 73%

“…As there was no evidence of heterogeneity among four studies for ABCB1 rs2032582 SNPs and CRC risk，a fixed-effect model was used [16,[19][20][21]. There was no significant association between Three studies supplied data on the frequency for combinations of two SNPs of the ABCB1 gene, including only wild-type alleles (rs2032582G/rs1045642C), only mutated alleles (rs2032582T/rs1045642T), and mixed alleles (rs2032582G/rs1045642T and rs2032582T/ rs1045642C) [19][20][21]. No evidence of heterogeneity existed among these studies for the above allele model with the exception for rs2032582T/ rs1045642T.…”

Section: Study Characteristicsmentioning

confidence: 99%

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ABCB1/MDR1 polymorphism and colorectal cancer risk: a meta-analysis of case-control studies

Zhang

et al. 2011

Colorectal Disease

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Aim: ABCB1/MDR1 is found in high concentrations on the apical surfaces of colonic epithelial cells. It acts as an efflux pump by transporting toxic endogenous substances, drugs and xenobiotics out of cells. ABCB1/MDR1 polymorphisms may either change its protein expression or alter its function, suggesting a possible association between ABCB1/MDR1 single nucleotide polymorphisms (SNP) and colorectal cancer. Several studies have reported the relationship between ABCB1 gene polymorphism and colorectal cancer (CRC) risk, but no consistent conclusion has been arrived at. We therefore conducted a meta-analysis to identify any association between ABCB1 gene and CRC risk.Method: PubMed, Embase, Google Scholar, Cbmdisc and CNKI were searched for studies on the relationship of ABCB1/MDR1 SNPs and the incidence of CRC. Eligible articles were included for data extraction. The main outcome was the frequency of ABCB1/MDR1 SNPs among cases and controls. Comparison of the distribution of SNP was mainly performed using Review Manager 5.0.Results: There were ten, four and two trials focusing on ABCB1 rs1045642, rs2032582 and rs3789243 SNP respectively. A total of 3175 cases and 3715 controls were included. The meta-analysis, stratified by ethnicity or population source, indicated no association between ABCB1 rs1045642 polymorphism and CRC risk . However, when the study by Bae et al was removed from the analysis, there was some evidence to indicate a higher frequency of T allele in CRC patients among Asians (OR= 1.30, 95%CI 1.02-1.67,P=0.03). Neither ABCB1 rs2032582 nor rs3789243 indicated an association with CRC risk. An increased frequency of only wild-type combined allele (rs2032582G/ rs1045642C) was found in Caucasian patients (OR= 1.22, 95%CI 1.03-1.44, P=0.02). Conclusion:There is some evidence to indicate an association of ABCB1 rs1045642T and CRC risk in Asians. Compared with SNPs for ABCB1 rs1045642, rs2032582 or rs3789243 alone, combined haplotypes of several SNPs might be a better marker to determine the genetic influence on the susceptibility to CRC among Caucasians.

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Section: Discussioncontrasting

confidence: 73%

Section: Study Characteristicsmentioning

confidence: 99%

ABCB1/MDR1 polymorphism and colorectal cancer risk: a meta-analysis of case-control studies

Zhang

et al. 2011

Colorectal Disease

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“…Bandur et al [53] reported that wild type haplotype of these three SNPs increases the risk of acute rejection of the graft in renal transplant patients. Some clinical studies have shown that 1236T-2677T-3435T haplotype is associated with reduced P-gp expression and activity [54], and in this manner Panczyk et al [55] confirmed greater risk for colorectal cancer development in population with TTT haplotype. Sai et al [56] associated this mutant haplotype with poorer irinotecan clearance in various cancers.…”

Section: Discussionmentioning

confidence: 88%

Genotype Variability and Haplotype Profile of Abcb1 (Mdr1) Gene Polymorphisms in Macedonian Population

Naumovska

Nestorovska

Sterjev

et al. 2014

Prilozi

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The aim of this study was to evaluate the most common ABCB1 (MDR1, P-glycoprotein) polymorphisms in the population of R. Macedonia and compare the allele and haplotype frequencies with the global geographic data reported from different ethnic populations. The total of 107 healthy Macedonian individuals from the general population was included. Genotypes for the ABCB1 for three polymorphisms C1236T [rs1128503], G2677A/T [rs2032582] and C3435T [rs1045642] were analyzed by Real-Time PCR. Obtained allele frequencies for these three SNPs were similar to those observed in other European Caucasians. The detected genotype frequencies were 33.6% for 1236CC, 44.9% for 1236CT and 21.5% for 1236TT in exon 12; 32.7%, 44.9% and 22.4% for 2677GG, 2677GT and 2677GT consecutively in exon 21; and 25.2% for 3435CC, 52.3% for 3435CT and 22.5% for 3435TT in exon 26.Strong LD was observed in our study among all = 0.859, r 2 = 0.711). Eight different haplotypes were identified and the most prominent was the CGC haplotype (45.3%). Our study was the first to have documented the distribution of ABCB1 alleles, genotypes and haplotypes in the population of R. Macedonia. The obtained results can help in the prediction of different response to the drugs that are P-glycoprotein substrates. Additionally, in the era of individualized medicine the determination of the P-glycoprotein genotype might be a good predictive marker for determination of the subpopulations with higher risk to certain diseases.

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“…The C3435T polymorphisms did not correlate with early relapse in high-risk stage II and stage III colorectal cancer patients [9], and G2677T/A and C3435T polymorphisms did not correlate with long-term prognosis in stage II-B or III-C colorectal cancer patients treated with 5-FU/leucovorin [10]. In contrast, they have been shown to be a predictive biomarker of 5-FU-based treatment effectiveness [8]. However, few studies have focused on toxicity, despite the fact that toxicity is generally related to efficacy.…”

mentioning

confidence: 96%

“…Some of the most commonly studied variants are rs1128503 (C1236T), rs2032592 (G2677A/T) and rs1045642 (C3435T) and the most commonly-studied haplo type involves these three SNPs. Significant differences in haplotype distributions were found between colorectal cancer patients and a healthy population [8]. To date, there is no clear consensus on the impact of any of these variants on Aim: To find out whether SNPs in the transporter gene ATP-binding casette B1 (ABCB1) were related to adverse effects in colorectal cancer patients treated with 5-fluorouracil (5-FU) or capecitabine.…”

mentioning

confidence: 99%

ABCB1 Gene Polymorphisms are Associated with Adverse Reactions in Fluoropyrimidine-Treated Colorectal Cancer Patients

et al. 2010

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ABCB1 gene polymorphisms and haplotype analysis in colorectal cancer

Cited by 47 publications

References 45 publications

ABCB1/MDR1 polymorphism and colorectal cancer risk: a meta-analysis of case-control studies

ABCB1/MDR1 polymorphism and colorectal cancer risk: a meta-analysis of case-control studies

Genotype Variability and Haplotype Profile of Abcb1 (Mdr1) Gene Polymorphisms in Macedonian Population

ABCB1 Gene Polymorphisms are Associated with Adverse Reactions in Fluoropyrimidine-Treated Colorectal Cancer Patients

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