scholarly journals Association of TP53 Arg72Pro polymorphism (rs1042522) with bladder cancer risk in the Ukrainian population

2018 ◽  
Vol 23 ◽  
pp. 214-218
Author(s):  
Ya. M. Mishchuk ◽  
Ye. V. Kharkivska ◽  
S. V. Serga ◽  
S. Ye. Shklyar ◽  
O. E. Stakhovskyi ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Tp53 Gene ◽  
Specific Primers ◽  
Tp53 Arg72pro ◽  
Cancer Group ◽  
Genotype Frequencies ◽  
Allele Specific ◽  
Hardy Weinberg Equilibrium ◽  
Polymorphic Variants ◽  
Tp53 Arg72pro Polymorphism

Aim. To determine the frequency of TP53 polymorphic variants in bladder cancer patients and define possible association of this polymorphism with a bladder cancer in Ukrainians patients. Methods. The genotypes of TP53 gene at codon 72 were detected by PCR with allele specific primers. We investigated Arg72Pro polymorphism in 114 DNA samples of patients with bladder cancer. The PCR-amplified DNA products were subjected to electrophoresis in 3 % agarose. Results. The distribution of genotypes in group of patients with a bladder cancer was: Arg/Arg – 59.6 % (n=68), Arg/Pro – 40.4 % (n=46), Pro/Pro – 0 % (n=0). Genotype frequencies in patients (χ2=7.28, p=0.0007) weren’t in agreement with Hardy-Weinberg equilibrium. There were significant differences in the frequency of genotypes between the healthy individuals and the cancer group patients. Our result showed that patients with bladder cancer had a significantly higher frequency of Arg/Arg (F=42.7, p<0.05) and a lower frequency of Pro/Arg (F=40.9, p<0.05) compared to controls. Conclusions. Our study allows us to suggest that Arg/Arg polymorphic variant of TP53 is associated with the higher risk of bladder cancer development in the Ukrainian population (OR = 5,6, 95 % CI = 3.19 to 9.34, p < 0.0001). Keywords: TP53 gene, bladder cancer, polymorphism Arg72Pro, Ukrainian population.

scholarly journals Prevalence of Some Genetic Risk Factors for Nicotine Dependence in Ukraine

2019 ◽  
Vol 2019 ◽  
pp. 1-8
Author(s):  
Vitalina Bashynska ◽  
Alexander Koliada ◽  
Kateryna Murlanova ◽  
Oksana Zahorodnia ◽  
Yuliia Borysovych ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Nicotine Dependence ◽  
Genetic Risk ◽  
Strong Risk Factor ◽  
Genotype Frequencies ◽  
Hardy Weinberg Equilibrium ◽  
Polymorphic Variants ◽  
Larger Sample ◽  
European Populations

Tobacco smoking is known to be a strong risk factor for developing many diseases. The development and severity of smoking dependence results from interaction of environmental and lifestyle factors, psycho-emotional predispositions, and also from genetic susceptibility. In present study, we investigated polymorphic variants in genes contributed to nicotine dependence, as well as to increased impulsivity, known to be an important risk factor for substance use disorders, in Ukraine population. The genotype frequencies at CYP2A6, DNMT3B, DRD2, HTR2A, COMT, BDNF, GABRA2, CHRNA5, and DAT1 polymorphisms were determined in 171 Ukraine residents, and these data were compared with data for several other European populations and main ethnic groups. It has been found that genotype frequencies for all studied loci are in Hardy-Weinberg equilibrium in the Ukrainian population and correspond to the respective frequencies in European populations. These findings suggest a similar impact of these loci on nicotine dependence in Ukraine. Further studies with larger sample sizes are, however, needed to draw firm conclusions about the effect size of these polymorphisms.

scholarly journals The Relationship of Gliomas with Tp53 Rs1042522 C > G And Gliomas in Duhok

2020 ◽  
Vol 23 (2) ◽  
pp. 157-165
Author(s):  
Farida F. A. Nerweyi
Keyword(s):  
Age Groups ◽  
Tp53 Gene ◽  
Suppressor Gene ◽  
Allele Frequencies ◽  
Pcr Analysis ◽  
Healthy Individuals ◽  
Tp53 Arg72pro ◽  
Gene Tp53 ◽  
And Gender ◽  
Tp53 Arg72pro Polymorphism

A tumor suppressor gene TP53 has a central role in controlling the cell cycle, apoptosis, as well as DNA damage repair. A common polymorphism in TP53 is the Arg72Pro exon 4 polymorphism. Polymorphism has been proposed to be associated with genetically determined susceptibility in different types of cancers, including glioma. This study was conducted to estimate the distribution of glioma within age groups, gender, smokers, and residence of individual also to investigate the distribution of TP53 Arg72Pro SNPs genotype in glioma, and determine whether TP53 Arg72Pro polymorphism is a possible relevance in susceptibility to glioma using RFLP-PCR analysis. Enrolled were 65 patients (glioma tissues matched age and gender) and 70 healthy individuals as a control. The findings in glioma samples 40(61.54%) were homozygous for arginine (Arg / Arg), 19 (29.23%) heterozygous for (Arg / Pro), and 6 (9.23%) homozygous for proline (Pro / Pro). Three separate frequencies of genotypes of Arg72Pro; 33 (47.14%), 28 (40.0), and 9 (12.86%) were identified in healthy individuals, respectively. The allele Frequencies for the Pro 72 and Arg 72 gliomas were 16 (24.62%) and 49 (75.38%), respectively. In the Pro 72 and Arg 72 controls, the allele frequencies were 23 (32.86%) and 47 (67.14%), respectively. Finally, there was no significant relationship between age group, gender, dwellers, non-smokers and smokers in different genotypes of codon 72 of TP53 gene (P < 0.05).

scholarly journals TP53 Arg72Pro polymorphism and neuroblastoma susceptibility in eastern Chinese children: a three-center case–control study

2020 ◽  
Vol 40 (5) ◽  
Author(s):  
Yuan Fang ◽  
Xuemei Wu ◽  
Lin Li ◽  
Jinhong Zhu ◽  
Haiyan Wu ◽  
...  
Keyword(s):  
Case Control Study ◽  
Tp53 Gene ◽  
Suppressor Gene ◽  
Case Control ◽  
Chinese Children ◽  
Future Studies ◽  
Tp53 Arg72pro ◽  
Tp53 Arg72pro Polymorphism ◽  
Stratified Analysis ◽  
Control Study

Abstract TP53 is a tumor suppressor gene that regulates cell growth, apoptosis and DNA repair. Previous studies have reported the contribution of TP53 Arg72Pro (rs1042522 C&gt;G) polymorphism to pathogenesis of multiple tumors. Hence, we evaluated the association between this polymorphism and neuroblastoma susceptibility in eastern Chinese children. The Taqman genotyping assay was performed in 373 patients and 762 controls. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the strength of the association. No significant association was found between the TP53 gene rs1042522 C&gt;G polymorphism and neuroblastoma susceptibility in the overall analysis (CG vs. CC: adjusted OR = 0.92, 95% CI = 0.70–1.22, P=0.567; GG vs. CC: adjusted OR = 0.99, 95% CI = 0.69–1.42, P=0.947; CG/GG vs. CC: adjusted OR = 0.94, 95% CI = 0.72–1.23, P=0.639; or GG vs. CC/CG: adjusted OR = 1.04, 95% CI = 0.75–1.43, P=0.814) and stratified analysis by age, gender, sites of origin, and clinical stages. The TP53 gene rs1042522 C&gt;G polymorphism may not be a risk factor for neuroblastoma in eastern Chinese children. Future studies are needed to confirm this negative result and to reveal additional functional TP53 variants predisposing to neuroblastoma.

scholarly journals XRCC1 codon 399 polymorphism (RS25487) in the Ukrainian population

1970 ◽  
Vol 21 ◽  
pp. 325-329
Author(s):  
Ya. M. Mishchuk ◽  
Ye. V. Kharkivska ◽  
S. V. Serha ◽  
S. Ye. Shkliar ◽  
V. B. Katrii ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Cancer Risk ◽  
Cancer Susceptibility ◽  
Control Group ◽  
Genotype Distribution ◽  
Xrcc1 Gene ◽  
Arg399gln Polymorphism ◽  
Keywords Bladder Cancer ◽  
Hardy Weinberg Equilibrium ◽  
Polymorphic Variants

Aim. To estimate the frequency of XRCC1 codon 399 polymorphic variants in bladder cancer patients and in a control group and define association of this polymorphism with a bladder cancer in Ukrainian patients. Methods. We determined the allele frequencies for 111 patients and 92 controls. Genotyping was performed by PCR-RELP method. Results. The distribution of genotypes in control group was: Arg/Arg – 48 % (n=44), Arg/Gln – 41.3 % (n=38), Gln/Gln – 10.7 % (n=10), whereas in group of patients with a bladder cancer the following distribution was observed: Arg/Arg – 56.8 % (n=63), Arg/Gln – 27.9 % (n=31), Gln/Gln – 15.3 % (n=17). Genotype distribution in control group was within Hardy-Weinberg equilibrium (χ2=59.7, p<0.0001), whereas in patient group it was not (χ2=0.172, p=0.678). No significant association was observed between the XRCC1 Arg399Gln polymorphism and bladder cancer risk. Conclusions. It is indicated that XRCC1 codon 399 polymorphism may not contribute to bladder cancer susceptibility in the Ukrainian population. Keywords: bladder cancer, polymorphism, XRCC1 gene, the cancer risk.

Meta-analysis of Association Between TP53 Arg72Pro Polymorphism and Bladder Cancer Risk

Urology ◽  
2010 ◽  
Vol 76 (3) ◽  
pp. 765.e1-765.e7 ◽  
Author(s):  
De-Ke Jiang ◽  
Wei-Hua Ren ◽  
Lei Yao ◽  
Wen-Zhang Wang ◽  
Bo Peng ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Cancer Risk ◽  
Meta Analysis ◽  
Bladder Cancer Risk ◽  
Tp53 Arg72pro ◽  
Tp53 Arg72pro Polymorphism

Polymorphism of Keratin - Associated Protein (KAP) 6.1 gene and its association with wool traits of Sandyno and Nilagiri breeds of sheep

2019 ◽  
Author(s):  
R. Bharathesree ◽  
N. Murali ◽  
R. Saravanan ◽  
R. Anilkumar
Keyword(s):  
Genomic Dna ◽  
Gene Locus ◽  
Genetic Selection ◽  
Effective Number ◽  
Heterozygous Genotype ◽  
Specific Primers ◽  
Hardy Weinberg Equilibrium ◽  
Polymorphic Variants ◽  
High Degree ◽  
Selection Of

Polymorphic variants of keratin-associated protein (KAP) 6.1 gene with wool traits of Sandyno and Nilagiri breeds of sheep were investigated in this study. Genomic DNA was isolated from blood samples of 125 Sandyno, Nilagiri and Dorset x Nilagiri breeds of sheep along with 76 numbers of wool samples. A 528 bp segment was amplified by PCR using ovine specific primers for KAP 6.1 gene. SSCP analysis of KAP 6.1 gene in Dorset x Nilagiri crossbred sheep resulted in two genotypes for the A/B with no polymorphism. KAP 6.1 gene locus revealed allele frequencies of A, B, C, D and E in Sandyno sheep were 0.67, 0.23, 0.04, 0.01 and 0.04 and in Nilagiri were 0.75, 0.06, 0.11, 0.04 and 0.04 respectively. KAP 6.1 gene revealed departure from Hardy-Weinberg equilibrium. KAP 6.1 genes were found to have high degree of homozygosity (0.6667) in Nilagiri sheep. The effective number of alleles (Ne) for KAP 6.1 gene was 1.1690 and 1.7006 respectively in Sandyno and Nilagiri breeds of sheep. The PIC values for KAP 6.1 gene was 0.1341 and 0.3909 in Sandyno and Nilagiri breeds of sheep respectively. FIS values for KAP 6.1 gene was positive (0.1909) in Nilagiri breed and it was negative (– 0.0110) in Sandyno breed. Least squares analysis of variance showed significant (P less than 0.05) effect between genotypes and between sexes for wool traits like GFW (kg), CWY (%) and FD (µ). Significant (P less than 0.05) effect of breed (Sandyno and Nilagiri) was observed for all the wool traits (GFW, CWY, FD, SL and Medullation %). Significant (p less than 0.05) higher CWY production was recorded for AC genotype (62.00 ± 1.73 %) while low value was recorded for BB genotype (56.25 ± 1.74 %). FD was found to be high in genotype AC (24.29 ± 1.17 µ) than in AA genotype (23.24 ± 0.49 µ). The homozygote AA was found to have more Medullation (%) and SL. Genotypes BB had higher GFW and lower CWY. The heterozygous genotype AC yielded more FD and CWY with lower most Medullation (%) and SL values. From the study, it may be concluded that KAP 6.1 gene might be a potential molecular marker for genetic selection of wool traits in Sandyno and Nilagiri breeds of sheep.

scholarly journals The Relationship of Gliomas with Tp53 Rs1042522 C > G And Gliomas in Duhok

2020 ◽  
Vol 23 (2) ◽  
pp. 157-165
Author(s):  
Farida F. A. Nerweyi
Keyword(s):  
Age Groups ◽  
Tp53 Gene ◽  
Suppressor Gene ◽  
Allele Frequencies ◽  
Pcr Analysis ◽  
Healthy Individuals ◽  
Tp53 Arg72pro ◽  
Gene Tp53 ◽  
And Gender ◽  
Tp53 Arg72pro Polymorphism

A tumor suppressor gene TP53 has a central role in controlling the cell cycle, apoptosis, as well as DNA damage repair. A common polymorphism in TP53 is the Arg72Pro exon 4 polymorphism. Polymorphism has been proposed to be associated with genetically determined susceptibility in different types of cancers, including glioma. This study was conducted to estimate the distribution of glioma within age groups, gender, smokers, and residence of individual also to investigate the distribution of TP53 Arg72Pro SNPs genotype in glioma, and determine whether TP53 Arg72Pro polymorphism is a possible relevance in susceptibility to glioma using RFLP-PCR analysis. Enrolled were 65 patients (glioma tissues matched age and gender) and 70 healthy individuals as a control. The findings in glioma samples 40(61.54%) were homozygous for arginine (Arg / Arg), 19 (29.23%) heterozygous for (Arg / Pro), and 6 (9.23%) homozygous for proline (Pro / Pro). Three separate frequencies of genotypes of Arg72Pro; 33 (47.14%), 28 (40.0), and 9 (12.86%) were identified in healthy individuals, respectively. The allele Frequencies for the Pro 72 and Arg 72 gliomas were 16 (24.62%) and 49 (75.38%), respectively. In the Pro 72 and Arg 72 controls, the allele frequencies were 23 (32.86%) and 47 (67.14%), respectively. Finally, there was no significant relationship between age group, gender, dwellers, non-smokers and smokers in different genotypes of codon 72 of TP53 gene (P < 0.05).

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