Abstract:Prostate adenocarcinoma is one of the leading causes of cancer related mortality in men but still limited knowledge is available about its associated functional SNPs including rs1042522 (Pro72Arg). The present study was undertaken to explore the association of this SNP with susceptibility to prostate adenocarcinoma along with its structural and functional impacts in the Pakistani population in a case-control study. Three-dimensional structure of human TP53 with Pro72Arg polymorphism was predicted through homol… Show more
“…Associations between the WWOX SNPs and several human diseases have been reported including thyroid carcinoma 34 , prostate cancer 35 36 , breast cancer 37 , and lung cancer 18 . Now, we identified the WWOX SNP rs383362G >T to be associated with COPD risk.…”
Single nucleotide polymorphisms (SNPs) in the WW domain containing oxidoreductase (WWOX) gene were recently identified to be quantitative trait loci for lung function and thus likely to be susceptible biomarkers for COPD. However, the associations between WWOX SNPs and COPD risk are still unclear. Here, by conducting a two-center case-control study including 1511 COPD cases and 1677 controls and a family-based analysis comprising 95 nuclear pedigrees, we tested the associations between five SNPs that are rs10220974C >T, rs3764340C >G, rs12918952G >A, rs383362G >T, rs12828G >A of WWOX and COPD risk as well as the hereditary inclination of these loci among COPD families. We found that the SNP rs383362G >T was significantly associated with an increased risk of COPD in a T allele-number dependent-manner (OR = 1.30, 95%CI = 1.11 - 1.52). The T allele was more prone to over transmit to sick children and sibs than the G allele (Z = 2.900, P = 0.004). Moreover, the forced expiratory volume in one second/forced vital capacity (FEV1/FVC), FEV1/predicted-FEV1 and annual FEV1 also significantly decreased in the rs383362T carriers compared to the rs383362GG carriers. For other SNPs, no significant association was observed for COPD and pulmonary function. Taken together, our data demonstrated that the SNP rs383362G >T of WWOX plays a role in COPD inheritance.
“…Associations between the WWOX SNPs and several human diseases have been reported including thyroid carcinoma 34 , prostate cancer 35 36 , breast cancer 37 , and lung cancer 18 . Now, we identified the WWOX SNP rs383362G >T to be associated with COPD risk.…”
Single nucleotide polymorphisms (SNPs) in the WW domain containing oxidoreductase (WWOX) gene were recently identified to be quantitative trait loci for lung function and thus likely to be susceptible biomarkers for COPD. However, the associations between WWOX SNPs and COPD risk are still unclear. Here, by conducting a two-center case-control study including 1511 COPD cases and 1677 controls and a family-based analysis comprising 95 nuclear pedigrees, we tested the associations between five SNPs that are rs10220974C >T, rs3764340C >G, rs12918952G >A, rs383362G >T, rs12828G >A of WWOX and COPD risk as well as the hereditary inclination of these loci among COPD families. We found that the SNP rs383362G >T was significantly associated with an increased risk of COPD in a T allele-number dependent-manner (OR = 1.30, 95%CI = 1.11 - 1.52). The T allele was more prone to over transmit to sick children and sibs than the G allele (Z = 2.900, P = 0.004). Moreover, the forced expiratory volume in one second/forced vital capacity (FEV1/FVC), FEV1/predicted-FEV1 and annual FEV1 also significantly decreased in the rs383362T carriers compared to the rs383362GG carriers. For other SNPs, no significant association was observed for COPD and pulmonary function. Taken together, our data demonstrated that the SNP rs383362G >T of WWOX plays a role in COPD inheritance.
“…TP53 gene encodes an antiancogenic homotetrameric protein that acts in control of cell cycle, DNA damage repairing and cell apoptosis Pouladi et al, 2014). rs1042522 (Ex4±119C>G) is the most significant polymorphism, due to its function in the transactivation of the pro-apoptotic target genes of the p53 protein (Li et al, 2005;Khan et al, 2014). After that, the p53 P47S SNP may influence the risk and progression of cancer and the efficiency of therapy differently, depending on ethnic components (Al-Qasem et al, 2012).…”
Breast cancer is the most common cancer among women in the world. In Iran, the incidence of breast cancer is on the increase. We here studied the association of rs1219648 in FGFR2 and rs1042522 in TP53 and their interaction in development of early onset sporadic breast cancer in Iranian Azeri population to evaluate epistatic effects on the risk of mammary neoplasia. We genotyped the two polymorphisms in 100 women with early onset breast cancer and 100 healthy women by PCR-RFLP. Allele frequency differences were tested using chi 2 -test with 95% confident intervals. Our results indicated a statistically significant association (p<0.05) between rs1219648, but not rs1042522, and risk of breast cancer. We also found that the combination of FGFR2 major genotype and TP53 hetero genotype had protective effects against breast cancer , while the hetero allele of FGFR2 in combination with the minor genotype of TP53 was associated with a high risk. This study revealed an important crosstalk between two polymorphisms in FGFR2 and TP53 in development of breast cancer. These candidates risk variants should be further evaluated in studies with a larger sample size.
“…The included studies and their main features are summarized in Table 1 . 7 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 The meta-analysis included 10 studies of individuals with Caucasian ethnicity, 6 of Asian, and one of African. Thirteen studies were performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), three by polymerase chain reaction (PCR) and one was conducted by TaqMan assay.…”
Section: Resultsmentioning
confidence: 99%
“…Notably, there were 5 case–control studies that deviated from the HWE ( Table 1 ). 7 , 13 , 14 , 24 , 28 Fig. 1 Flow chart showing the study selection procedure.…”
Section: Resultsmentioning
confidence: 99%
“…Several previous studies have elaborated the association between the TP53 rs1042522 polymorphism and PCa susceptibility; however, the results are inconsistent. In 2014, Khan et al 7 conducted a meta-analysis comprising of 13 case–control studies and identified that the Arg coding G allele was significantly associated with an increased susceptibility to prostate adenocarcinoma in the Pakistani population (P < 0.001), a result consistent with another meta-analysis of six case–control studies by Zhang et al 8 that implicated the TP53 codon 72 polymorphism in a low-penetrant susceptibility to PCa in Caucasians but not in Asians. As several more studies have been published since these meta-analyses were carried out, we conducted an updated meta-analysis to achieve a more accurate estimation of the association between the TP53 rs1042522 polymorphism and PCa susceptibility.…”
ObjectiveThe proposal of the present study was to investigate whether the TP53 rs1042522 polymorphism confers susceptibility to prostate cancer (PCa), by performing an updated meta-analysis.MethodsEligible publications investigating the association between the TP53 rs1042522 polymorphism and PCa susceptibility were selected from PubMed, Google Scholar, and Web of Science. We used STATA 12.0 software to conduct the analyses. Odds ratio (OR) with 95% confidence interval (CI) was calculated.ResultsA total of 17 case–control studies were retrieved reporting a total of 2683 cases and 2981 controls. However, no significant association was uncovered between the TP53 rs1042522 polymorphism and PCa susceptibility in the overall population under the five genetic models. In the stratification analysis by source of control, an increased susceptibility to PCa was identified in the population-based (P-B) group (CG vs. GG: OR = 1.48, 95% CI: 1.24–1.77, P < 0.01; CC/CG vs. GG: OR = 1.32, 95% CI: 1.12–1.57, P < 0.01), whereas a decreased susceptibility was uncovered in the hospital-based (H-B) group (CG vs. GG: OR = 0.67, 95% CI: 0.46–0.96, P = 0.03; CC/CG vs. GG: OR = 0.67, 95% CI: 0.46–0.99, P = 0.04) under heterozygous and dominant model.ConclusionThis study did not find an association between the TP53 rs1042522 polymorphism and PCa susceptibility in the overall population and corresponding subgroup analyses except in the stratification analysis by source of control. The results suggest that the TP53 rs1042522 polymorphism is not a risk factor for PCa.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
