P53 Gene Polymorphisms Research Articles

P53 Signaling Pathway Polymorphisms Associated With Emphysematous Changes in Patients With COPD

The p53 signaling pathway may be important for the pathogenesis of emphysematous changes in the lungs of smokers. Polymorphism of p53 at codon 72 is known to affect apoptotic effector proteins, and the polymorphism of mouse double minute 2 homolog (MDM2) single nucleotide polymorphism (SNP)309 is known to increase MDM2 expression. The aim of this study was to assess polymorphisms of the p53 and MDM2 genes in smokers and confirm the role of SNPs in these genes in the pathogenesis of pulmonary emphysema. This study included 365 patients with a smoking history, and the polymorphisms of p53 and MDM2 genes were identified. The degree of pulmonary emphysema was determined by means of CT scanning. SNPs, MDM2 mRNA, and p53 protein levels were assessed in human lung tissues from smokers. Plasmids encoding p53 and MDM2 SNPs were used to transfect human lung fibroblasts (HLFs) with or without cigarette smoke extract (CSE), and the effects on cell proliferation and MDM2 promoter activity were measured. The polymorphisms of the p53 and MDM2 genes were associated with emphysematous changes in the lung and were also associated with p53 protein and MDM2 mRNA expression in the lung tissue samples. Transfection with a p53 gene-coding plasmid regulated HLF proliferation, and the analysis of P2 promoter activity in MDM2 SNP309-coding HLFs showed the promoter activity was altered by CSE. Our data demonstrated that p53 and MDM2 gene polymorphisms are associated with apoptotic signaling and smoking-related emphysematous changes in lungs from smokers.

Study on p73 gene polymorphism and genetic susceptibility to hepatocellular cancer

Objective To evaluate the potential role of the separately p73 gene polymorphism on hepatocellular carcinoma(HCC) susceptibility. Methods A hospital-based case-control study was conducted in 100 cases HCC patients and 100 cases age, sex-matched cancer-free controls in the same region.The matrix-assisted laser desorption ionization time-of-flight mass spectrometry and DNA sequencing methods were used to analyze polymorphisms of p73 genetic polymorphisms (G4C14-A4T14). Using χ2 test to exam the differences of genotype between the HCC group and control group, logistic regression was used to analysis odds ratio(Oddsratios, OR) and 95%CI(Confidence Intervals, CI), adjusted for age and sex, analysis the association between SNPs of P73 polymorphisms and HCC.All the results were analyzed by SPSS 18.0. Results (1)The differences of age(χ2=0.185, P=0.667), gender(χ2=0.026, P=0.873), drinking status(χ2=0.427, P=0.514), and family history (χ2=0.058, P=0.809)of cancer composition between HCC group and control group were not statistically significant.(2)There were CC, CT and TT three genotypes in p73 rs1801173 C/T.The frequencies of CC, CT and TT genotypes of P73 C/T in controls and HCC cases were 65.0%, 28.2%, 6.8 % and 62.2%, 31.1%, 6.7%, respectively, and there was no significant difference between the two groups(χ2=0.326, P=0.568). (3)When stratifying by age, gender, smoking status, alcohol consumption, HBV carrier status and family history of cancer we found that the variant genotypes of GC/AT + AT/AT in P73 was associated with a significantly increased risk of HCC among HbsAg-positive individuals(χ2=3.916, P=0.048) and female(χ2=6.545, P=0.01), and there were no significant correlation with age, smoking, alcohol consumption, family history of cancer. Conclusion (1)p73 G4C14-to-A4T14 dinucleotide polymorphism may play a role in the development of chronic HBV-infected HCC in the Chinese population.(2)p73 G4C14-to-A4T14 dinucleotide polymorphism may play a role in the development of chronic HCC in female of Chinese population. Key words: Gene polymorphism; p73; Hepatocellular carcinoma

Effect of p53 Codon 72 Polymorphism on Clinical Outcome in Locally Advanced Breast Cancer Patients Receiving Anthracycline Based Neoadjuvant Chemotherapy

Background: Breast cancer is the second most common cancer in the world after lung cancer and the most common cancer among women. Most of the women exhibit interindividual variation to cytotoxic therapy. It may be due to the genetic polymorphism of genes involved in pharmacokinetics and pharmacodynamics pathways of drugs. Various studies implicated the role of p53 gene polymorphism in the sensitivity of apoptosis. Objective: The objective of the study was to know the effect of p53 tumor suppressor gene 72 codon polymorphism on response in breast cancer patients receiving anthracycline-based neoadjuvant chemotherapy. Results: A total of 170 patients were enrolled for the study. The median age of the patient group was 50 year (23-60). The majority of patients were post-menopausal (61%). Most of the patients were node positive and also found to have grade II tumor. Hormone receptor positivity of estrogen, progesterone, and human epidermal growth factor were 48%, 37%, and 60%. The genotype of 72 G>C codon polymorphism was done by real time-polymerase chain reaction The frequencies of wild homozygous variant GG, heterozygous variant GC, and mutant homozygous variant CC were found to be 42%, 43%, and 15% respectively. 145 patients were assessed for response of which 133 patients were found be responders and 12 patients were found be non-responders. The genotype frequency of P5379G>A variant were significantly different between patients having a complete and partial response in the recessive genetic model (RR=0.2972, C.I=0.078-1.122, P=0.03.). However there was no association of genotypes with progression-free survival and overall survival. Conclusion: This study concludes that p53 gene polymorphism partially may have a role in predicting the response in breast cancer patients. Key words: p53 tumor suppressor gene, Single nucleotide polymorphism, Anthracyclines, Tumor response, Pathological response.

Association of C-myc and p53 Gene Expression and Polymorphisms with Hepatitis C (HCV) Chronic Infection, Cirrhosis and Hepatocellular Carcinoma (HCC) Stages in Egypt

The aim of this study is to investigate c-myc and p53 gene expression and polymorphisms in different stages of HCV infection,. Expression levels of c-myc and p53 were evaluated by RT-PCR and polymorphisms were determined by PCR-RFLP in 60 HCV patients classified into chronic infection, cirrhosis and HCC groups along with 30 controls. c-myc gene expression significant increased through the stages as compared to the control level (1.17, 1.82, 3.33 and 0.32, respectively), whereas p53 significantly declined (4,375, 3,842, 525 and 5,498, respectively). The C-myc CC genotype was predominant in the HCC group (90%) to a greater extent than in the cirrhosis, chronic infection and control cases (80%, 20% and 10%, respectively), while the GG genotype was predominant in controls (83%, as compared to 65%, 10% and 10%). The CG genotype was most common in chronic infection (15%). The p53 PP genotype predominated in controls (87%, with 15%, 10% and 20%, respectively, for the three stages) while the AA genotype demonstrated only slight increase to HCC (13%, 25% and 30%, respectively) and PA genotype was predominant in cirrhosis cases (90%). These findings reveal that c-myc and p53 gene expression and polymorphisms may be considered as promising sensitive genetic biomarkers for progression of HCV infection.

The Evaluation of p53 Polymorphism at Codon 72 and Association With Breast Cancer in Iran: A Systematic Review and Meta-analysis

BackgroundBreast cancer is the most common cancer among women in Iran and the world. Multiple environmental factors and genetic variations such as genetic polymorphisms are of its main causes. p53 gene plays an important role in conserving and sustaining the genome as a tumor suppressing gene. Change and polymorphism at codon 72 of p53 gene are correlated with increased risk of lung, mouth, endometrial, prostate, and colorectal cancers, and could be considered an indicator of susceptibility to breast cancer.MethodsTwelve studies (1,190 cases and 1,145 control studies with evaluation of three types of Arg/Arg, Arg/Pro, and Pro/Pro genotypes) have been conducted using keywords, such as polymorphism at codon 72, gene p53 polymorphisms, and the relation between polymorphisms and breast cancer, from databases in Iran, including Magiran, Medlibe, Sid, and Iranmedex, as well as Latin databases such as PubMed, Google Scholar, Science Direct, and Scopus.ResultsThe OR for Arg/Arg is 1.58 (95% CI: 2.45 to 1.01), the OR for Arg/Pro is 0.75 (95% CI: 1.10 to 0.51), and the OR for Pro/Pro is 0.62 (95% CI: 0.93 to 0.42). p53 gene polymorphism at codon 72 is statistically significant in Arg/Arg and Pro/Pro genotypes.ConclusionsArg/Arg genotype can be considered as a risk factor for breast cancer, and Pro/Pro genotype can be accounted for as a protective factor against breast cancer.

Association of Codon 72 of P53 Gene Polymorphism with Chronic Hepatitis C Virus Infection: A Case Control Study

Single nucleotide polymorphism in codon 72 of p53 gene (Arg/Pro) changes p53 protein structure and affects its activities. Hepatitis C virus (HCV) is believed to induce hepatocellular carcinoma and P53 polymorphisms have been associated with human cancers. The aim of this study was to evaluate genetic variants of codon 72 of p53 gene polymorphism in HCV patients and its relationship with HCV infection. The study was conducted on 67 HCV patients, who were referred to medical centers of Mashhad city, Iran, and 73 healthy people from the same region. Genotyping of codon 72 of p53 gene was performed by PCR-RFLP method. The distributions of different alleles of p53 polymorphisms did not differ significantly between groups. The respective proportions of Proline homozygotes, heterozygotes, and Arginine homozygotes were 37.31%, 35.82%, 26.86% in patients and 39.72%, 27.39%, and 32.87% in the control group respectively. However, we found no significant differenece for the allelic or genotype distribution between cases and controls. Our results indicated no strong evidence of association of the p53 polymorphism with HCV infection; however, further investigation is needed in different ethnic groups to elucidate the role of this polymorphism in HCV infection.

186P - P53 and ERCC1 gene polymorphisms can predict the recurence risk of breast cancer

186P - P53 and ERCC1 gene polymorphisms can predict the recurence risk of breast cancer

Association of Glutathione-S-Transferase M1, P1, and T1 Gene Polymorphisms with Treatment Response in Childhood Acute Lymphocytic Leukemia

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Association of glutathione S-transferases M1, T1 and P1 gene polymorphisms with attention deficit and hyperactivity disorder in Korean children

Attention deficit and hyperactivity disorder (ADHD) is highly heritable disorder and common in school-age children characterized by inattention, hyperactivity and impulsivity. Although its heritability was estimated at 80–90% from family, adoption and twin studies, the molecular etiology of this disorder has not elucidated. Meanwhile, an impaired balance of oxidant-antioxidant status and increased oxidative stress is observed in ADHD, and it may imply a possible relationship between oxidative stress and etiology of ADHD. Glutathione S-transferase (GST) is antioxidant enzymes that play a key role in the cellular detoxification. In the present study, we examined the association between the genetic polymorphisms of GSTM1, GSTP1 and GSTT1, and ADHD in Korean children. Case–control study was conducted with 243 ADHD children and 327 controls. There were no significant associations between the polymorphisms and the incidence of ADHD (p>0.05). However, significant associations were observed in the stratified analyses. The frequency of GSTP1 Ile/Ile genotype is reached to the significant level in the hyperactivity subtype (88.2%) compared to controls (64.8%) (p=0.035) and the frequency of GSTT1-null genotype is significantly higher in the inattentive boys (p=0.005). Similarly, GSTT1-null genotype showed significant associations in combined subtype (p=0.016) and hyperactivity subtype (p=0.036) of the ADHD girls. Thus our result imply that the polymorphisms in the GST genes may affect ADHD, however, replication study for larger sample set and functional studies are crucial to confirm these findings.

Precancerous squamous intraepithelial lesions by human papillomavirus infection and p53 R72P polymorphism in Mexican women

The aim was to determine the association between R72P polymorphism of p53 gene and the risk of developing squamous intraepithelial cervical lesions in HPV-16 and /or 18 infected women. Two groups of women were included in this study: 74 patients HPV-16 and /or 18 positive with a cytological and colposcopy diagnosis of squamous intraepithelial lesion and a group of unrelated 130 healthy blood-donors. The viral genotype, allele and genotype of the polymorphism frequencies were determined by PCR approached. The results were analyzed with the statistical programs DeFinetti and STAT intercooled v11.1. Patients with high-grade squamous intrahepitelial lesions (HG-SIL) were infected mainly by HPV-16 (60.72%) compared to low-grade lesions (LG-SIL) (39.28%) (OR 3.14; p= 0.037), with HPV-18 genotype 68.96% of LG-SIL and 31.04% were HG-SIL (OR=0.24, p=0.006). HG-SIL were more common in patients carrying both viral genotypes (70.59% vs 29.41%) (OR 2.8, p = 0.008). A statistically significant association was observed between the genotype R/R and HG-SIL (OR=11.25, IC 3.8-33.29, p= 0.000) compared to those with LG-SIL. The P/R genotype was significantly more frequent in patients LG-SIL, compared to HG-SIL (OR=0.27, p=0.00). In conclusion patients with the R/R genotype showed more susceptibility to HPV-16 infection and they have almost 12 times more risk probability of HG-SIL compared to women having the heterozygous genotype and HPV-18.

The association between codon72 polymorphism of p53 gene and the risk of endometrial cancer: an updating meta-analysis.

Controversy still exists in the relationship between p53 codon72 polymorphism and the risk of endometrial cancer. In order to figure out this inconsistency, database on HuGE Navigator, PubMed and Web of Science about the case-control studies were compiled in the present work. Statistic analysis was performed by STATA 12.0. Total 11 eligible publications were selected in this meta-analysis including 1086 endometrial cancer and 1403 controls. There was no significant relationship between codon72 polymorphism of p53 gene and the risk of endometrial cancer under allele model [Pro versus Arg: OR 0.99, 95% CI (0.87, 1.15)], dominant model [ArgPro+ProPro versus ArgArg: OR 0.88, 95% CI (0.67, 1.15)], recessive model [ProPro versus ArgArg+ArgPro: OR 1.09, 95% CI (0.84, 1.42)] and addictive model [ProPro versus ArgArg: OR 0.97, 95% CI (0.72, 1.29)]. Samples from endometrial tissue with homozygous ArgArg have the increased risk of EC [allele model: OR 0.71, 95% CI (0.53, 0.96); addictive model: OR 0.46, 95% CI (0.24, 0.87)]. This meta-analysis revealed a weak association between the codon72 polymorphism of p53 gene and the risk of endometrial cancer. Women with homozygous Arg72 may be more susceptible to endometrial cancer than others with heterozygotes and homozygous Pro72.

Association between glutathione S-transferases M1, T1 and P1 gene polymorphisms and prostate cancer in Koreans

Prostate cancer (PCa) is the most commonly diagnosed cancer in the developed world, and the incidence of this cancer is rising rapidly in many countries. Several polymorphic genes encoding enzymes involved carcinogenesis have been studied as potential risk factor of prostate cancer. Genetic polymorphisms in glutathione S-transferases M1 (GSTM1), T1 (GSTT1) and P1 (GSTP1) genes have been constantly reported to have a meaningful effect on prostate cancer risk. But other surveys of this relationship have yielded inconsistent results. To assess the possible contribution of the GSTM1, GSTT1, and GSTP1 gene polymorphisms in prostate cancer, we performed a population-based study of 139 prostate cancer patients and 115 healthy controls based on their genotype distributions of the genes. There were no differences in distributions of genotype frequencies of GSTM1 and GSTP1 polymorphisms between prostate cancer patients and controls (OR 1.60, 95 % CI 0.886–2.860 for GSTM1 and OR 1.38, 95 % CI 0.739–2.577 for GSTP1). In contrast, the distribution of GSTT1-null genotype is significantly different between the prostate cancer case and controls (OR 0.26, 95 % CI 0.128–0.518, p < 0.001). Meanwhile, GSTP1 I/V and V/V genotypes were significantly associated with prostate cancer where the PSA level was more than 10.0 (OR 2.73, 95 % CI 1.319–5.639, p = 0.006). Thus, our data imply that the GSTT1-null genotype may not be a risk factor but a protective factor of prostate cancer and GSTP1 Val allele is a risk factor for the prostate cancer where the PSA level was high, although functional studies with larger sample size are necessary to elucidate these findings.

Screening of spontaneous genomic alterations and p53 gene polymorphism in new onset of Parkinson disease

Screening of spontaneous genomic alterations and p53 gene polymorphism in new onset of Parkinson disease

Association of mortalin (HSPA9) and other mitochondria-related genes with the risk of Parkinson's disease and Alzheimer's disease

Association of mortalin (HSPA9) and other mitochondria-related genes with the risk of Parkinson's disease and Alzheimer's disease

Glutathione S-Transferase Gene Polymorphisms and Treatment Outcome in Cervical Cancer Patients under Concomitant Chemoradiation.

PurposeCisplatin based concomitant chemoradiation (CRT) is the standard treatment for locally advanced cervical cancer (CC). Glutathione S-transferase (GST), a phase II antioxidant enzyme is induced by oxidative stress generated by drugs and reactive oxidants. The present study was undertaken to evaluate the association of GSTM1, T1 and P1 polymorphisms with the outcome of CRT treatment in CC patients.MethodsA total of 227 cervical cancer patients with stages IIB-IIIB treated with the same chemoradiotherapy regimen were enrolled and genotyped for GSTM1, T1 and P1 gene polymorphisms by multiplex polymerase chain reaction (mPCR) and PCR-restriction fragment length polymorphism (PCR-RFLP). Overall survival was evaluated using Kaplan-Meier survival function and Cox proportional hazards model. All data were analyzed using SPSS (version 21.0).ResultsStratified analysis showed that GSTM1 null (M1-) genotype was associated with a significantly better survival among patients with stage IIB cervical cancer (log-rank P = 0.004) than cases with stage IIIA/IIIB. Death and recurrence were significantly higher in patients with GSTM1 present genotype (M1+) (P = 0.037 and P = 0.003 respectively) and those with M1- showed reduced hazard of death with an adjusted hazard ratio ‘HR’ of 0.47 (95% CI, 0.269–0.802, P = 0.006). Women with M1- genotype as well as in combination with GSTT1 null (T1-), GSTP1 (AG+GG) and GSTT1 null/GSTP1 (AG+GG) showed better survival and also reduced risk of death (HR = 0.31, P = 0.016; HR = 0.45, P = 0.013; HR = 0.31, P = 0.02 respectively).ConclusionsTo the best of our knowledge, this is the first study to correlate the association of GSTM1, T1 and P1 gene polymorphisms with treatment outcome of CRT treated CC patients. Our results suggested that individuals with GSTM1 null genotype and in combination with GSTT1 null and GSTP1 (AG+GG) had a survival advantage. Such genetic studies may provide prognostic information in CRT treated CC patients.

No Evidence of Association of the Arg72Pro p53 Gene Polymorphism with Cancer Risk in the Saudi Population: a Meta-Analysis.

Earlier studies on the association between p53 codon 72 Arg>Pro polymorphism and cancer risk were inconclusive and conflicting for the Saudi population. Therefore, we performed a meta-analysis to investigate the relationship between the codon 72 Arg>Pro polymorphism and overall cancer risk in Saudi Arabia. We searched all eligible published studies and data were pooled together to perform the meta-analysis. Pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated for homozygous, heterozygous, dominant and recessive genetic models. A total of five eligible published studies covering 502 cancer cases and 784 healthy controls were included in the meta-analysis. No publication bias was detected in this study. The results suggested that the variant (Pro vs Arg: p=0.960; OR=1.004, 95% CI=0.852-1.183), homozygous (Pro.Pro vs Arg.Arg: p=0.970; OR=1.006, 95% CI=0.729-1.390), heterozygous (Arg.Pro vs Arg.Arg: p=0.473; OR=0.783, 95% CI=0.402-1.527) carriers were not associated with overall cancer risk. Similarly, dominant (Pro.Pro+Pro.Arg vs Arg.Arg: p=0.632; OR=0.886, 95% CI=0.540-1.454) and recessive (Pro.Pro vs Pro.Arg+Arg.Arg: p=0.269; OR=1.163, 95%CI=0.890-1.521) models also did not indicate increased risk of cancer. The current meta-analysis suggests that the codon 72 Arg>Pro polymorphism of the p53 gene might not contribute to cancer susceptibility in Saudi population. Future well designed large case control studies are needed to validate our findings.

Abstract 4841: NF-kB - p53 gene associations and prostate cancer risk

Abstract Introduction: Prostate cancer is the most commonly diagnosed male malignancy and the second leading cause of cancer death, representing 29% of all male cancer deaths. Various tumor suppressor genes have been identified, playing a role in prostate cancer development and progression. The tumor suppressor gene p53, is the most commonly mutated gene in human cancers. Studies show that p53 can induce activation of NF-kB, and loss of NF-kB activity specifically abrogated the p53-mediated apoptotic response, without impinging on the ability to activate expression of target genes or induce cell-cycle arrest. NF-kB plays a well-known function in the regulation of immune responses and inflammation, but growing evidences support a major role in oncogenesis. Although it has been suggested that activation of NF-kB is not directly associated with tumor development and progression, NF-kB has been considered to be a major biomarker and therapeutic target. Enhanced NF-κB activity can be directly induced by mutations of NF-κB genes and/or oncogenes that activate the NF-κB signaling pathway. In view of the earlier reports, this study is aimed at investigating the role of p53 and NF-kB gene polymorphisms in prostate cancer risk and the possible correlation between p53-NF-kB gene in development and progression of disease. Materials &amp; methods: Blood samples were collected from 113 prostate cancer patients and a 135 normal healthy and age matched male subjects from local wellness clinics. DNA extracted from the blood at the Genetic Research Institute of the Desert is used to screen two gene polymorphisms in p53 and NF-kB using PCR-RFLP,gel electrophoresis and PCR and ABI 3130 CE-based genetic analysis. Genotype data was recorded from two methods and analyzed for frequency, Chi-Square &amp; correlations coefficients using SPSS statistical package (PASW Grad pack 18). Results: Our data showed a strong association of p53 codon248 (p&amp;lt;0.001) and NF-kB gene polymorphism (p&amp;lt;0.031) with prostate cancer. Further analysis of these two gene combinations in prostate cancer and controls showed a significant correlation (p&amp;lt;0.001) between the two gene polymorphisms in prostate cancer patients. Individually, both p53codon 248 and NF-kB del were robustly associated with prostate cancer occurrence. Moreover, the gene-gene combination predicted the occurrence of prostate cancer. Conclusions: A strong association of p53 and NF-kB gene polymorphisms with prostate cancer suggests these two genes to be possible markers for prostate cancer risk. NF-kB is known to crosstalk with many other tumor-related signaling pathways including p53. Given the unprecedented role of p53-NF-kB in tumorigenesis, p53-NF-kB risk alleles can be used as a screening device for cancer susceptibility to inform the need for more intensive ongoing cancer surveillance. Citation Format: Radhika Gade Andavolu, Catherine Stafford, Murthy Vs Andavolu, Jean-Luc Cardenas, Jacob Rubin, Ross Shore, Svetlana Rubakovic. NF-kB - p53 gene associations and prostate cancer risk. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 4841. doi:10.1158/1538-7445.AM2015-4841

Association of DNA Damage Repair Gene Polymorphisms hOGG1, XRCC1and p53 with Sickle Cell Disease Patients in India.

BackgroundOxidative stress constitutes one of the significant cause of vaso-occlusive clinical episodes in sickle cell disease (SCD) patients. It brings about the generation of reactive oxygen species and consequent damage to DNA. DNA damage repair genes such as hOGG1, XRCC1 and p53 play an important role in the repair of DNA damage during oxidative stress. However, it is not known as to the role of these genes in oxidative stress mediated vaso-occlusive clinical complications of SCD patients.ObjectiveTo see the possible association of DNA repair gene polymorphisms with clinical manifestation of SCD patients. Methods: Genotyping of DNA damage repair genes by PCR-RFLP, measurement of oxidant and anti-oxidant status, along with a clinical evaluation of 250 SCD patients and their comparison with normal individuals.ResultThe level of oxidants were high, and that of antioxidants were low in SCD patients compared to normal individuals. The prevalence of mutant alleles of hOGG1 gene, XRCC1 gene (codon 280 Arg>His) were found to be significantly higher among SCD patients as compared to controls. However, SCD patients did not show clinical association with any of these DNA repair gene polymorphisms.ConclusionThis indicates that hOGG1, p53and XRCC1 gene polymorphisms have no clinical association with SCD patients in India.

Role of glutathione S-transferase M1, T1 and P1 gene polymorphisms in childhood acute lymphoblastic leukemia susceptibility in a Turkish population

The variations between different individuals in the xenobiotic metabolizing enzymes' activity were shown to modify susceptibility to childhood acute lymphoblastic leukemia (ALL). Polymorphisms associated with genes coding for the glutathione S-transferase (GST) enzyme were known to affect the metabolism of different carcinogens. The aim of this study was to evaluate the influence of the GSTM1 and GSTT1 deletion polymorphisms, and the GSTP1 Ile105Val single nucleotide polymorphism (SNP) on the susceptibility to childhood ALL. The study was conducted in 95 children with ALL and 190 healthy control subjects from the Turkish population. The data revealed no difference in the prevalence of the GSTM1 and GSTT1 null genotypes between the childhood ALL patients and the controls. No association was found between GSTP1 Ile105Val variants and the susceptibility to childhood ALL, separately or in combination. Our findings suggested that the status of heritable GST polymorphism might not influence the risk of developing childhood ALL. Studies with a larger sample size are needed to evaluate and confirm the validity of our results.

Association between a p73 gene polymorphism and genetic susceptibility to non-small cell lung cancer in the South of China.

This study aimed to identify any association between the p73 gene G4C14-to-A4T14 polymorphism and risk of non-small cell lung cancer (NSCLC) in the south of China. We genotyped the p73 gene polymorphism of peripheral blood DNA from 168 patients with NSCLC and 195 normal controls using HRM (high resolution melting) and PCR-CTPP (polymerase chain reaction with confronting two-pair primers). The results of genotyping by HRM and PCR-CTPP were consistent with direct sequencing, the p73 genotype distribution in 168 lung cancer patients being as follows: GC/GC 101 cases (60.1%), GC/ AT 59 cases (35.1%), AT/AT 8 cases (4.8%). The carriers of AT/AT genotype had a significantly reduced risk of NSCLC (OR=0.370; 95%CI: 0.170-0.806; p=0.010) as compared with non-carriers. However, we found no relations between p73 genotypes and histological type (p=0.798, x2=0.452), tumor stage (p=0.806, x2=0.806), or lymph node metastasis (p=0.578, x2=1.098). Our findings suggest that the p73 G4C14-to-A4T14 polymorphism may be a modifier of NSCLC susceptibility in the Chinese population.