Multidrug resistance 1 (MDR1/ABCB1) gene polymorphism (rs1045642 C &gt; T) and susceptibility to multiple myeloma: a systematic review and meta-analysis

Razi, Bahman; Sarab, Gholamreza Anani; Omidkhoda, Azadeh; Alizadeh, Shahab

doi:10.1080/10245332.2018.1443897

Cited by 10 publications

(6 citation statements)

References 43 publications

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“…A similar finding was also found in a study of haplotype involving such polymorphism with the risk of colorectal and esophageal cancer and in a systematic review and meta-analysis regarding the genetic susceptibility to multiple myeloma [27], [41].…”

Section: Resultssupporting

confidence: 84%

Allele Frequency of Carbamazepine Major Efflux Transporter Encoding Gene ABCB1 C3435T among Javanese-Indonesian Population

Istikharah¹,

Hartienah²,

Vitriyani³

et al. 2020

Open Access Maced J Med Sci

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BACKGROUND: Genetic variations in ABCB1 gene that encodes P-glycoprotein, the main transporter in the efflux of carbamazepine (CBZ) from the brain cells, can lead to pharmacodynamic and pharmacokinetic variability. Polymorphism of C3435T is widely known to cause protein overexpression that contributes to an increased risk of CBZ resistance. AIM: This study determined the allele frequency distribution of ABCB1 C3435T gene in healthy subjects of the Javanese population as a major ethnic group in Indonesia. METHODS: This cross-sectional study involved 100 healthy volunteers who fulfilled the inclusion criteria. The genotype analysis to detect polymorphism in the targets employed the polymerase chain reaction-restriction fragment length polymorphism method with 5’-TGCTGGTCCTGAAGTTGATCTGTGAAC-3’ as the forward primer and 5’-ACATTAGGCAGTGACTCGATGAAGGCA-3’ as the reverse primer. RESULTS: The frequency of subjects with C allele in ABCB1 C3435T gene reached 53%, higher than that with T allele. CONCLUSION: This finding was nearly the same as that in studies of the populations in China, Turkey, and four countries in the South European continent. It is recommended to conduct further research on the correlation between C3435T polymorphism and CBZ dose variability to provide a comprehensive approach to epilepsy management in patients receiving CBZ.

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Section: Resultssupporting

confidence: 84%

Allele Frequency of Carbamazepine Major Efflux Transporter Encoding Gene ABCB1 C3435T among Javanese-Indonesian Population

Istikharah¹,

Hartienah²,

Vitriyani³

et al. 2020

Open Access Maced J Med Sci

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“…The identification of new prognostic and predictor factors may help to define subgroups of patients that most likely can benefit from chemotherapy [49]. Among analyzed variants of the ABCB1 gene, including 3435C > T (synonymous variant), 1236C > T (synonymous variant) and 2677G > T/A (non-synonymous variant), the most important seems to be the one located at nucleotide 3435 [50]. It leads to changes at the mRNA level and affects protein folding [51].…”

Section: Discussionmentioning

confidence: 99%

“…Some studies have confirmed the relationship of the ABCB1 3435 C > T variant with MM risk. However, published data are still inconclusive [50]. The meta-analysis performed by Razi and co-workers did not find an association of ABCB1 3435C > T with MM susceptibility [50].…”

Section: Discussionmentioning

confidence: 99%

The Relationship of ABCB1/MDR1 and CYP1A1 Variants with the Risk of Disease Development and Shortening of Overall Survival in Patients with Multiple Myeloma

Zmorzyński

Wojcierowska-Litwin

Popek-Marciniec

et al. 2021

JCM

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(1) Background: The aim of our study was to analyze the possible relationship of ABCB1 and CYP1A1 gene variants with susceptibility and outcome of multiple myeloma (MM); (2) Methods: Genomic DNA samples from 110 newly-diagnosed MM patients and 100 healthy blood donors were analyzed by methods-PCR-RFLP (for ABCB1 3435C > T, CYP1A1 6235T > C—m1), automated DNA sequencing (for ABCB1 1236C > T, 2677G > T/A) and allele-specific PCR (for CYP1A1 4889A > G—m2); (3) Results: The genotypic frequencies of CYP1A1 4889A > G variant were not in Hardy-Weinberg equilibrium for MM patients. The presence of m1 and m2 CYP1A1 alleles decreased the risk of MM—OR = 0.49 (p = 0.011) and OR = 0.27 (p = 0.0003), respectively. In turn, TT genotype (ABCB1 2677G > T/A) increased the risk of this disease (p = 0.007). In the multivariate Cox analysis CT + TT genotypes (ABCB1 3435C > T) were associated with decreased risk of death (HR = 0.29, p = 0.04). In log-rank test in patients with CT genotype (ABCB1 3435C > T) was observed association of overall survival with the type of treatment; (4) Conclusions: Our findings suggest that T-alleles of ABCB1 2677G > T/A and m1/m2 alleles of CYP1A1 affected the susceptibility of MM. Moreover, T-allele of ABCB1 3435C > T might be independent positive prognostic factor in MM.

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“…A silent mutation at ABCB1 rs1045642 may decrease the expression levels of the mRNA and protein products, or alter the protein structure and substrate affinity (Cascorbi, 2006; Kimchi‐Sarfaty et al, 2007). Genotype TT was found to significantly increase the overall risk of gastric cancer in Iranian individuals and upper aerodigestive tract cancer in Indian individuals (Sabahi et al, 2010; Sam et al, 2007), and was associated with colorectal cancer and multiple myeloma in French individuals (Falkowski et al, 2017; Razi, Anani Sarab, Omidkhoda, & Alizadeh, 2018). There is a correlation between SNPs at rs3789243 with colorectal cancer (Andersen et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

Impact of genetic variants of ABCB1, APOB, CAV1, and NAMPT on susceptibility to pancreatic ductal adenocarcinoma in Chinese patients

Zhang

Wang

et al. 2020

Molec Gen & Gen Med

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Background Among the different types of cancer, pancreatic cancer, particularly pancreatic ductal adenocarcinoma (PDAC), is the most lethal malignancy, with poor early detection rates and prognosis. The aim of the present study was to investigate the potential genetic effects of the single‐nucleotide polymorphisms (SNPs) in ABCB1 (rs1045642, rs3789243, rs4148737), APOB (rs693, rs1042031), CAV1 (rs12672038, rs1997623, rs3807987, rs7804372), and NAMPT (rs9034, rs2505568, rs61330082) on PDAC. Methods A total of 273 patients with PDAC and 263 healthy controls were genotyped using PCR and direct Sanger sequencing. Unconditional logistic regression models were used to evaluate the potential effects of the genotypes, alleles, and haplotypes on the risk of developing PDAC. Results Patients with PDAC possessed a considerably lower frequency of genotypes AG, GG, and allele G at ABCB1 rs4148737 compared with controls. Based on age, sex, smoking status, drinking status, diabetes, and family history of cancer, stratified analyses showed a significant correlation between SNPs at rs4148737 and PDAC. According to specific SNPs, eight haplotypes were constructed along with ABCB1 rs4148737, rs1045642, and rs3789243. Carriers with haplotypes ACC and ATC were more susceptible to developing PDAC, whereas haplotypes GCC and GTC were associated with a reduced likelihood of developing PDAC. The distributions of the other SNPs in each group were not significantly associated with PDAC risk. Conclusions These results suggested that genetic polymorphisms of ABCB1 rs4148737 may influence an individual's risk of developing PDAC.

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Multidrug resistance 1 (MDR1/ABCB1) gene polymorphism (rs1045642 C > T) and susceptibility to multiple myeloma: a systematic review and meta-analysis

Abstract: This meta-analysis suggests that the MDR1 C > T polymorphism was not associated with the risk of MM. To confirm these findings, further comprehensive and well-designed studies are needed.

Cited by 10 publications

References 43 publications

Allele Frequency of Carbamazepine Major Efflux Transporter Encoding Gene ABCB1 C3435T among Javanese-Indonesian Population

Allele Frequency of Carbamazepine Major Efflux Transporter Encoding Gene ABCB1 C3435T among Javanese-Indonesian Population

The Relationship of ABCB1/MDR1 and CYP1A1 Variants with the Risk of Disease Development and Shortening of Overall Survival in Patients with Multiple Myeloma

Impact of genetic variants of ABCB1, APOB, CAV1, and NAMPT on susceptibility to pancreatic ductal adenocarcinoma in Chinese patients

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