• Title, Summary, Keyword: polymorphism

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Prognostic Value of a CYP2B6 Gene Polymorphism in Patients with Acute Myeloid Leukemia

  • Alazhary, Nevin M;Shafik, Roxan E;Shafik, Hanan E;Kamel, Mahmoud M
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.11
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    • pp.4583-4587
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    • 2015
  • Background: The objectives of this study aimed to detect a CYP2B6 polymorphism in de novo cases of acute myeloid leukemia patients and identify any role in disease progression and outcome. Materials and Methods: DNA was isolated from peripheral blood of 82 newly diagnosed acute myeloid leukemia cases and the CYP2B6 G15631T gene polymorphism was assayed by PCR restriction fragment length polymorphism (PCR-RFLP). Results: The frequency of the GG genotype (wild type) was 48 (58.5%) and that of the mutant type T allele was 34 (41.9%). GT genotype heterozygous variants were found in 28 (34%), and TT genotype homozygous variants in 6 (7.3%) cases. We found no significant association between the CYP2B6 G15631T polymorphism and complete response (CR) (p-value=0.768), FAB classification (p-value=0.51), cytogenetic analysis (p-value=0.673), and overall survival (p-value=0.325). Also, there were no significant links with early toxic death (p-value=0.92) or progression-free survival (PFS) (p-value=0.245). Conclusions: Our results suggest that the CYP2B6 polymorphism has no role in disease progression, therapeutic outcome, patient free survival, early toxic death and overall survival in acute myeloid leukemia patients.

Lack of Association between Hsa-Mir-499 rs3746444 Polymorphism and Cancer Risk: Meta-analysis Findings

  • Jiang, Sheng-Gao;Chen, Lin;Tang, Jin-Hai;Zhao, Jian-Hua;Zhong, Shan-Liang
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.1
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    • pp.339-344
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    • 2015
  • Epidemiologic findings concerning the association between the hsa-mir-499 rs3746444 A>G polymorphism and cancer risk have yielded mixed results. We aimed to investigate the association by performing a meta-analysis of all available studies. We searched PubMed and EMBASE for studies published up to November 2014, using odds ratios (ORs) with 95% confidence intervals (CIs) to assess the strength of any association. The Benjamini-Hochberg (BH) method was used to correct the p values for multiple comparisons. We included 39 studies, including 14,136 cases and 16,937 controls. The results of overall meta-analysis suggested a borderline association between hsa-mir-499 rs3746444 polymorphism and cancer susceptibility (AG+GG vs. AA: OR=1.15, 95% CI=1.04-1.26, corrected p value=0.04). After removing studies not conforming to Hardy-Weinberg equilibrium (HWE), however, this association disappeared (AG+GG vs AA: OR=1.18, 95% CI=1.03-1.34, corrected p value=0.21). When stratified analysis by ethnicity, cancer type or HWE in controls, although some associations between hsa-mir-499 rs3746444 polymorphism and cancer susceptibility were detected, these associations no longer existed after adjustment using BH method. In conclusion, our meta-analysis suggests that hsa-mir-499 rs3746444 A>G polymorphism is not associated with risk of cancer based on current evidence.

Lack of Association of the MDR1 C3435T Polymorphism with Susceptibility to Gastric Cancer and Peptic Ulcer: a Systemic Review and Meta-analysis

  • Wu, Dan-Dan;Zhang, Ji-Xiang;Li, Jiao;Dong, Wei-Guo
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.7
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    • pp.3021-3027
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    • 2014
  • Background: The multidrug resistance 1 gene (MDR1) C3435T polymorphism has been demonstrated to influence the P-glycoprotein (P-gp) activity level which is related to inflammation and carcinogenesis. This meta-analysis was performed to estimate the association between the MDR1 C3435T polymorphism and the risk of gastric cancer (GC) and peptic ulcer (PU). Materials and Methods: A literature search was conducted with PubMed, Embase and the Cochrane library up to November 2013. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of association. Data were analyzed using Review Manager (Version 5.2), and Stata package (version 12.0) for estimation of publication bias. Results: Six case-control studies were included, of which five were for GC and two for PU. Overall, no evidence was found for any association between the MDR1 C3435T polymorphism and the susceptibility to GC and PU. In the stratified analysis by H. pylori infection status, stage and histology classification of GC, and PU type, there was still no significant association between them. Conclusions: This meta-analysis suggested that the MDR1 C3435T polymorphism is not associated with susceptibility to GC and PU. Large and well-designed studies are warranted to validate our findings.

Association of the XRCC1 c.1178G>A Genetic Polymorphism with Lung Cancer Risk in Chinese

  • Wang, Lei;Lin, Yong;Qi, Cong-Cong;Sheng, Bao-Wei;Fu, Tian
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.9
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    • pp.4095-4099
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    • 2014
  • The X-ray repair cross-complementing group 1 protein (XRCC1) plays important roles in the DNA base excision repair pathway which may influence the development of lung cancer. This study aimed to evaluate the potential association of the XRCC1 c.1178G>A genetic polymorphism with lung cancer risk. The created restriction site-polymerase chain reaction (CRS-PCR) and DNA sequencing methods were utilized to evaluate the XRCC1 c.1178G>A genetic polymorphism among 376 lung cancer patients and 379 controls. Associations between the genetic polymorphism and lung cancer risk were determined with an unconditional logistic regression model. Our data suggested that the distribution of allele and genotype in lung cancer patients was significantly different from that of controls. The XRCC1 c.1178G>A genetic polymorphism was associated with an increased risk of lung cancer (AA vs GG: OR=2.91, 95%CI 1.70-4.98, p<0.001; A vs G: OR=1.52, 95%CI 1.22-1.90, p<0.001). The allele A and genotype AA may contribute to risk of lung cancer. These preliminary results suggested that the XRCC1 c.1178G>A genetic polymorphism is statistically associated with lung cancer risk in the Chinese population.

Lack of any Association of the CTLA-4 +49 G/A Polymorphism with Breast Cancer Risk in a North Indian Population

  • Minhas, Sachin;Bhalla, Sunita;Shokeen, Yogender;Jauhri, Mayank;Saxena, Renu;Verma, Ishwar Chandra;Aggarwal, Shyam
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.5
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    • pp.2035-2038
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    • 2014
  • Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is an important protein involved in the regulation of the immune system. The +49 G/A polymorphism is the only genetic variation in the CTLA-4 gene that causes an amino acid change in the resulting protein. It is therefore the most extensively studied polymorphism among all CTLA-4 genetic variants and contributions to increasing the likelihood of developing cancer are well known in various populations, especially Asians. However, there have hiterto been no data with respect to the effect of this polymorphism on breast cancer susceptibility in our North Indian population. We therefore assayed genomic DNA of 250 breast cancer subjects and an equal number of age-, sex- and ethnicity-matched healthy controls for the CTLA-4 +49 G/A polymorphism but no significant differences in either the gene or allele frequency were found. Thus the CTLA-4 +49 G/A polymorphism may be associated with breast cancer in other Asians, but it appears to have no such effect in North Indians. The study also highlights the importance of conducting genetic association studies in different ethnic populations.

Single Nucleotide Polymorphism in Cytochrome P450 2E1 among Korean Patients on Warfarin Therapy

  • Han, Dong-Hoon;Lee, Min-Jeon;Kim, Jeong-Hee;Lee, Suk-Hyang
    • Biomolecules & Therapeutics
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    • v.14 no.4
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    • pp.189-193
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    • 2006
  • This study was designed to assess the distribution of cytochrome P450 2E1 (CYP2E1) polymorphism among Korean patients on warfarin therapy. CYP2E1 polymorphism was analyzed at 5' flanking region of CYP2E1 gene using restriction fragment length polymorphism method. Patient characteristics including the measured internal normalized ratio (INR) were also evaluated. Based on the warfarin dose and the bleeding cases, the patients were grouped as the regular dose control, the regular dose bleeding, the low dose control, and the low dose bleeding. Total 96 patients were evaluated for both Pst I and Rsa I loci of the CYP2E1 gene and the results showed that both loci were tightly linked. Thirty-three patients(34.4%) were heterozygotes and 4 patients(4.2%) were homozygote. There was no significant difference in patient characteristics in the dose and bleeding case groups. CYP2E1 polymorphism showed a little difference among the groups but was not statistically significant, however, lower INR value was observed in homozygote genotype groups. It was also revealed that genotype allele frequencies of CYP2E1 in Korean was close to other Asian groups but was significantly different from other Caucasian and African-American populations.

XRCC1-77T>C Polymorphism and Cancer Risk: A Meta-analysis

  • Wang, Yong-Gang;Zheng, Tian-Ying
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.1
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    • pp.111-115
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    • 2012
  • Variants of X-ray repair cross-complementing group 1 (XRCC1) are involved in the development of cancer, but studies investigating the association of XRCC1-77T>C polymorphism with cancer risk have reported conflicting results. To clarify the effect of the XRCC1 -77T>C polymorphism on cancer risk, we performed a meta-analysis by conducting searches of the published literature in PubMed, Embase and CBM databases. Finally, 13 studies were included into our meta-analysis, involving a total of 11, 678 individuals. Subgroup analyses were performed by ethnicity and cancer type. The results of this meta-analysis showed that there was significant association between the C variant of XRCC1-77T>C polymorphism and cancer risk in all four genetic comparison models (ORC vs. T =1.19, 95%CI 1.07-1.31, P = 0.001; OR homozygote model =1.28, 95%CI 1.07-1.52, P = 0.007; OR recessive genetic model =1.22, 95%CI 1.04-1.44, P = 0.015; OR dominant model =1.21, 95% CI 1.07-1.35, P = 0.001). In the subgroup analyses based on ethnicity, the association was still significant in the Asian population (all p values<0.001), but not in the Caucasian population (all p values > 0.05). Thus, the XRCC1 -77T>C polymorphism is associated with cancer risk, and individuals with XRCC1 -77C variant have a significantly higher cancer risk, particularly in the Asian population.

Insertion/deletion (I/D) in the Angiotensin-converting Enzyme Gene and Breast Cancer Risk: Lack of Association in a Meta-analysis

  • Pei, Xin-Hong;Li, Hui-Xiang
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.11
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    • pp.5633-5636
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    • 2012
  • Purpose: Breast cancer is an important cause of cancer-related death in women. Numerous studies have evaluated the association between the insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme (ACE) gene and breast cancer risk. However, the specific association is still controversial rather than conclusive. Therefore, we performed a meta-analysis of related studies to address this controversy. Methods: PubMed, EMBASE, Google Scholar and the Chinese National Knowledge Infrastructure databases were systematically searched to identify relevant studies. A meta-analysis was performed to examine the association between the I/D polymorphism in the ACE gene and susceptibility to breast cancer. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated. Results: 10 separate studies of 7 included articles with 10,888 subjects on the relation between the I/D polymorphism in the ACE gene and breast cancer were analyzed by meta-analysis, and our results showed no association between the I/D polymorphism in the ACE gene and breast cancer in total population and different populations. No publication bias was found in the present study. Conclusions: The ACE I/D polymorphism may not be associated with breast cancer risk. Further large and well-designed studies are needed to confirm this conclusion.

Methylenetetrahydrofolate Reductase C677T Polymorphism and Cervical Cancer Risk: a Meta-Analysis

  • Guo, Li-Na
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.5
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    • pp.2193-2197
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    • 2012
  • Background: Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the metabolism of folate, and the role of MTHFR C677T polymorphism in cervical carcinogenesis is still controversial. Method: We performed a meta-analysis of all relevant case-control studies that examined any association between the C677T polymorphism and cervical cancer risk. We estimated summary odds ratios (ORs) with their confidence intervals (CIs) to assess links. Results: Finally, 10 studies with a total of 2113 cervical cancer cases and 2804 controls were included. Results from this meta-analysis showed that significantly elevated cervical cancer risk was associated with the MTHFR T allele in the Asian population under conditions of two genetic comparison models (for TT vs. CC, OR = 1.37, 95%CI 1.00-1.87, P = 0.050; for TT vs. TC+CC: OR = 1.34, 95%CI 1.01-1.77, P = 0.039). However, there was no obvious association between the MTHFR C677T polymorphism and cervical cancer risk in the other populations. Conclusion: The MTHFR C677T polymorphism is associated with cervical cancer risk in Asians, while any possible link in the Caucasian population needs further studies.

Lack of Association between the hOGG1 Ser326Cys Polymorphism and Gastric Cancer Risk: a Meta-analysis

  • Li, Bai-Rong;Zhou, Guo-Wu;Bian, Qi;Song, Bin
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.4
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    • pp.1145-1149
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    • 2012
  • Aim: To clarify any association between the hOGG1 Ser326Cys polymorphism and susceptibility to gastric cancer. Methods: A meta-analysis based on 11 eligible case-control studies involving 5,107 subjects was carried out to summarize the data on the association between hOGG1 Ser326Cys polymorphism and gastric cancer risk. Results: No association was found between hOGG1 Ser326Cys polymorphism and gastric cancer risk (dominant model: OR = 0.95, 95% CI: 0.83-1.09, p = 0.486, ph (p values for heterogeneity) = 0.419; additive model: OR = 1.02, 95% CI: 0.81-1.30, p = 0.850, ph = 0.181; recessive model: OR = 1.09, 95% CI: 0.80-1.48, p = 0.586, ph = 0.053). Subgroup analysis based on ethnicity (Asian and Caucasian) and smoking status (ever smoker and never smoker) did did notpresent any significant association. Sensitivity analysis did not perturb the results. Conclusions: This study strongly suggested there might be no association between the hOGG1 Ser326Cys polymorphism and gastric cancer risk. However, larger scale studies are needed for confirmation.