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ABCB1 variants C3435T and T129C are not associated with colorectal cancer risk.

ABSTRACT: Background:Colorectal cancer (CRC) is one of the most prevalent cancers in Saudi Arabia that is highly characterized with poor survival rate and advanced metastasis. Many studies contribute this poor outcome to the expression of ABC transporters on the surface of cancer cells. Objectives:In this study, two ABCB1 variants, C3435T and T129C, were examined to evaluate their contribution to CRC risk. Methods:125 subjects (62 CRC patients and 63 healthy controls) were involved. The DNA was isolated and analyzed with PCR-RFLP to determine the different genotypes. The hardy-Weinberg equilibrium was performed to determine genotype distribution and allele frequencies. Fisher's exact test (two-tailed) was used to compare allele frequencies between patients and control subjects. Results:The study showed that for SNP C3435T, the population of both CRC patients and controls were out of Hardy-Weinberg equilibrium. Genotype distribution for CRC patients was (Goodness of fit ?2 = 20, df= 1, P?0.05), whereas, for the controls the genotype distribution was (Goodness of fit ?2 = 21, df =1, P ?0.05). For SNP T129C, all subjects showed normal (TT) genotype. Conclusion:There was no significant association between ABCB1 3435C>T and 129T>C polymorphisms with CRC risk.

SUBMITTER: Al Qahtani AM

PROVIDER: S-EPMC7040265 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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<i>ABCB1</i> variants C3435T and T129C are not associated with colorectal cancer risk.

Al Qahtani Areej M AM Al-Ghafari Ayat B AB Al Doghaither Huda A HA Alzahrani Anas H AH Omar Ulfat M UM Rahimulddin Sawsan A SA

African health sciences 20190901 3

<h4>Background</h4>Colorectal cancer (CRC) is one of the most prevalent cancers in Saudi Arabia that is highly characterized with poor survival rate and advanced metastasis. Many studies contribute this poor outcome to the expression of ABC transporters on the surface of cancer cells.<h4>Objectives</h4>In this study, two <i>ABCB1</i> variants, C3435T and T129C, were examined to evaluate their contribution to CRC risk.<h4>Methods</h4>125 subjects (62 CRC patients and 63 healthy controls) were inv ...[more]

PMID: 32127820

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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.

Dataset Information

ABCB1 variants C3435T and T129C are not associated with colorectal cancer risk.

Publications

<i>ABCB1</i> variants C3435T and T129C are not associated with colorectal cancer risk.

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