Impact of APEX Ile64val Gene Polymorphisms of DNA Repair Ber System on Modulation of the Risk of Colorectal Cancer in the Polish Population

AbstractColorectal cancer (CRC) is one of the deadliest cancers which lie in the incidence of morbidity in second place. Intensive research is to determine and confirm the genetic basis of this disease, which is believed may have a direct relationship with the reduced efficiency of DNA repair systems.The aim of this study was to determine the effect of APEX gene polymorphism Ile64Val on increasing the risk of colorectal cancer in the Polish population.Material and methods. The blood samples collected from 150 patients diagnosed with colon cancer was used. The control group consisted of 150 healthy subjects. Genotyping was performed by TaqMan method.Results. The results indicate that genotype Ile Val is associated with an increased risk of colorectal cancer (OR 2.069; 95% CI 1,205-3,552; p = 0.008).Conclusions. Based on these results, we conclude that the APEX gene polymorphism Ile64Val may be associated with an increased risk of colorectal cancer.

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The Role of the XPF Gene Polymorphism (Xrcc4) Ser835ser in the Risk of Malignant Transformation of Cells in the Colorectal Cancer

Polish Journal of Surgery ◽

10.1515/pjs-2015-0023 ◽

2015 ◽

Vol 87 (2) ◽

Author(s):

Jacek Kabziński ◽

Ireneusz Majsterek ◽

Adam Dziki ◽

Michał Mik

Keyword(s):

Colorectal Cancer ◽

Dna Repair ◽

Gene Polymorphism ◽

Risk Groups ◽

Control Group ◽

Preventive Program ◽

Increased Risk ◽

Long Time ◽

Repair Systems

AbstractParticipation of DNA repair systems in the pathogenesis of cancer has been a suspected phenomenon for a long time. Decreased efficiency in DNA repair translates to their ability to fix and consequently leads to mutations and the process of carcinogenesis. Linking individual polymorphisms of DNA repair systems with an increased risk of colorectal cancer will allow the classification of patients to high-risk groups and their placement under preventive program.The aim of the study was to determine the effect of XPF gene polymorphism Ser835Ser on increasing the risk of colorectal cancer in the Polish population.Material and methods. as the material blood collected from 146 patients diagnosed with colon cancer was used. The control group consisted of 149 healthy subjects. Genotyping was performed by Taq- Man method.Results. The results indicate that genotype TCC/TCT is associated with an decreased risk of colorectal cancer (OR 0.574; CI 95% 0.335-0.984; p=0.043).Conclusions. Based on these results, we conclude that the XPF gene polymorphism Ser835Ser may be associated with a decreased risk of colorectal cancer

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Impact of polymorphisms in DNA repair genes XPD, hOGG1 and XRCC4 on colorectal cancer risk in a Chinese Han Population

Bioscience Reports ◽

10.1042/bsr20181074 ◽

2019 ◽

Vol 39 (1) ◽

Cited By ~ 1

Author(s):

Dexi Jin ◽

Min Zhang ◽

Hongjun Hua

Keyword(s):

Colorectal Cancer ◽

Gene Polymorphisms ◽

Colorectal Carcinogenesis ◽

Chinese Han Population ◽

Control Group ◽

Chinese Han ◽

Han Population ◽

Increased Risk ◽

Hogg1 Gene ◽

Repair Genes

Abstract Background: This research aimed to study the associations between XPD (G751A, rs13181), hOGG1 (C326G, rs1052133) and XRCC4 (G1394T, rs6869366) gene polymorphisms and the risk of colorectal cancer (CRC) in a Chinese Han population. Method: A total of 225 Chinese Han patients with CRC were selected as the study group, and 200 healthy subjects were recruited as the control group. The polymorphisms of XPD G751A, hOGG1 C326G and XRCC4 G1394T loci were detected by the RFLP-PCR technique in the peripheral blood of all subjects. Results: Compared with individuals carrying the XPD751 GG allele, the A allele carriers (GA/AA) had a significantly increased risk of CRC (adjusted OR = 2.109, 95%CI = 1.352–3.287, P=0.003). Similarly, the G allele (CG/GG) of hOGG1 C326G locus conferred increased susceptibility to CRC (adjusted OR = 2.654, 95%CI = 1.915–3.685, P<0.001). In addition, the T allele carriers (GT/TT) of the XRCC4 G1394T locus have an increased risk of developing CRC (adjusted OR = 4.512, 95%CI = 2.785–7.402, P<0.001). The risk of CRC was significantly increased in individuals with both the XPD locus A allele and the hOGG1 locus G allele (adjusted OR = 1.543, 95%CI = 1.302–2.542, P=0.002). Furthermore, individuals with both the hOGG1 locus G allele and the XRCC4 locus T allele were predisposed to CRC development (adjusted OR = 3.854, 95%CI = 1.924–7.123, P<0.001). The risks of CRC in XPD gene A allele carriers (GA/AA) (adjusted OR = 1.570, 95%CI = 1.201–1.976, P=0.001), hOGG1 gene G allele carriers (CG/GG) (adjusted OR = 3.031, 95%CI = 2.184–4.225, P<0.001) and XRCC4 gene T allele carriers (GT/TT) (adjusted OR = 2.793, 95%CI = 2.235–3.222, P<0.001) were significantly higher in patients who smoked ≥16 packs/year. Conclusion: Our results suggest that XPD G751A, hOGG1 C326G and XRCC4 G1394T gene polymorphisms might play an important role in colorectal carcinogenesis and increase the risk of developing CRC in the Chinese Han population. The interaction between smoking and these gene polymorphisms would increase the risk of CRC.

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ASSOCIATION OF DNA REPAIR GENE POLYMORPHISM WITH CHROMOSOMAL ABERRATIONS IN THE HUMAN LYMPHOCYTES

Ecological genetics ◽

10.17816/ecogen9274-79 ◽

2011 ◽

Vol 9 (2) ◽

pp. 74-79

Author(s):

Varvara I Minina ◽

Vladimir G Druzhinin ◽

Anna A Lunina ◽

Aleksey V Larionov ◽

Alexey N Volkov ◽

...

Keyword(s):

Dna Repair ◽

Gene Polymorphism ◽

Chromosomal Aberrations ◽

Gene Polymorphisms ◽

Indoor Radon ◽

Human Lymphocytes ◽

Control Group ◽

Repair Gene ◽

Dna Repair Gene ◽

High Doses

Analysis of association between several DNA repair gene polymorphisms and the level of chromosomal aberrations (CAs) in lymphocytes was performed in two groups of teenagers: a group of 256 donors exposed to indoor radon and a control group of 94 donors. In the group of children with living conditions exposing them to high doses of radon (> 200 Bq/m3 ), the level of CAs shows a significant increase in the carrier of genotypes: hOGG1 Cys/Cys, hOGG1 Ser/Cys, ADPRT Ala/Ala and ADPRT Val/Ala. Furthermore there were no significant associations between level of CA and Arg194Trp, Arg280His, Arg399Gln polymorphisms of the XRCC1 and Asp148Glu polymorphism of the APE1 found.

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Individual and Combined Assessment of Ser680Asn FSH Receptor and FSHβ -211 G>T Gene Polymorphisms in Ovarian Response in IVF/ICSI Program

Current Pharmaceutical Biotechnology ◽

10.2174/1389201021666201029153518 ◽

2020 ◽

Vol 21 ◽

Author(s):

Elli Anagnostou ◽

Alexia Kafkoutsou ◽

Despina Mavrogianni ◽

Ekaterini Domali ◽

Evangelia Dimitroulia ◽

...

Keyword(s):

Gene Polymorphism ◽

Gene Polymorphisms ◽

Ovarian Response ◽

Greek Population ◽

Control Group ◽

Genotype Distribution ◽

Β Subunit ◽

Molecular Genetic Study ◽

The Impact ◽

First Time

Background: Molecular biology tools, such as the detection of single nucleotide polymorphisms (SNPs), have been considered to assist to the management of the ovarian stimulation protocols. Purpose: The aim of this study was to evaluate the impact of two polymorphisms, the Asn680Ser polymorphism of the FSHR gene, and the FSH β subunit (FSHβ) gene polymorphism -211 G>T, in a Greek population of women undergoing IVF/ICSI program in our center. In addition, a control group of fertile women was studied, to verify whether there are differences in the genotype distribution between fertile and infertile population for both polymorphisms, as the FSHβ gene polymorphism -211 G>T is studied for the first time in the Greek population. Results : The FSH β-211 G>T polymorphism, studied for the first time in the Greek infertile population, appears to be quite rare. When studying the two polymorphisms separately, statistically significant differences were obtained that concerned the LH levels. Discussion: According to the combination analysis of the two polymorphisms by the number of alleles, women with 2-3 polymorphic alleles needed more days of stimulation, but there were no differences in pregnancy rates. Conclusion: This molecular genetic study helps to elucidate whether the polygenic combination of the Asn680Ser and FSH β subunit -211 G>T gene polymorphisms is of additive value in the prediction of ovarian response to exogenous gonadotropins.

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DNA Repair Gene Polymorphism and the Risk of Mitral Chordae Tendineae Rupture

Disease Markers ◽

10.1155/2015/825020 ◽

2015 ◽

Vol 2015 ◽

pp. 1-6

Author(s):

Aysel Kalayci Yigin ◽

Mehmet Bulent Vatan ◽

Ramazan Akdemir ◽

Muhammed Necati Murat Aksoy ◽

Mehmet Akif Cakar ◽

...

Keyword(s):

Dna Repair ◽

Fragment Length Polymorphism ◽

Control Group ◽

Chordae Tendineae ◽

Repair Gene ◽

Repair Capacity ◽

Dna Repair Capacity ◽

Dna Repair Gene ◽

Increased Risk ◽

Polymerase Chain

Polymorphisms in Lys939Gln XPC gene may diminish DNA repair capacity, eventually increasing the risk of carcinogenesis. The aim of the present study was to evaluate the significance of polymorphism Lys939Gln in XPC gene in patients with mitral chordae tendinea rupture (MCTR). Twenty-one patients with MCTR and thirty-seven age and sex matched controls were enrolled in the study. Genotyping of XPC gene Lys939Gln polymorphism was carried out using polymerase chain reaction- (PCR-) restriction fragment length polymorphism (RFLP). The frequencies of the heterozygote genotype (Lys/Gln-AC) and homozygote genotype (Gln/Gln-CC) were significantly different in MCTR as compared to control group, respectively (52.4% versus 43.2%,p=0.049; 38.15% versus 16.2%,p=0.018). Homozygote variant (Gln/Gln) genotype was significantly associated with increased risk of MCTR (OR = 2.059; 95% CI: 1.097–3.863;p=0.018). Heterozygote variant (Lys/Gln) genotype was also highly significantly associated with increased risk of MCTR (OR = 1.489; 95% CI: 1.041–2.129;p=0.049). The variant allele C was found to be significantly associated with MCTR (OR = 1.481; 95% CI: 1.101–1.992;p=0.011). This study has demonstrated the association of XPC gene Lys939Gln polymorphism with MCTR, which is significantly associated with increased risk of MCTR.

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C-X-C chemokine receptor type 5 gene polymorphism affects gene expression in CD4+ T cells and is associated with increased risk of colorectal cancer

Tumor Biology ◽

10.1007/s13277-014-2069-8 ◽

2014 ◽

Vol 35 (8) ◽

pp. 7929-7934 ◽

Cited By ~ 1

Author(s):

Junjie Xing ◽

Xu Li ◽

Jinke Sui ◽

Guangwen Cao ◽

Chuangang Fu

Keyword(s):

Gene Expression ◽

Colorectal Cancer ◽

T Cells ◽

Gene Polymorphism ◽

Chemokine Receptor ◽

Cd4 T Cells ◽

Receptor Type ◽

Increased Risk

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Relationship between Genetic Polymorphism of CYP1A1 at Codon 462 (Ile462Val) in Colorectal Cancer

The International Journal of Biological Markers ◽

10.1177/172460080802300103 ◽

2008 ◽

Vol 23 (1) ◽

pp. 18-23 ◽

Cited By ~ 1

Author(s):

P.V. Pereira Serafim ◽

I.D. Cotrim Guerreiro da Silva ◽

N. Manoukian Forones

Keyword(s):

Colorectal Cancer ◽

Group Versus ◽

Positive Association ◽

Control Group ◽

Case Group ◽

Wild Type ◽

Cancer Group ◽

Increased Risk ◽

Colorectal Cancer Patients ◽

Alcohol Users

Aims and background The enzyme cytochrome P450 plays an important role in the metabolization and detoxification of various compounds. CYP1A1 is a polymorphic enzyme and some of its alleles have been correlated with an increased risk of developing various types of cancer. The aim of this study was to investigate the incidence of the polymorphism A→G (Ile462Val, exon 7) in colorectal cancer patients and the correlation of this polymorphism with others risk factors. Patients and methods 114 Brazilian patients with colorectal cancer were matched by age and sex to 114 healthy individuals. DNA was extracted from peripheral blood and the genotypes of the polymorphisms were assessed by PCR-restriction fragment length polymorphism. Results In the case group 64 subjects were male, 53 were alcohol users and 68 were smokers. In the control group 61 were male, 67 were alcohol users and 53 smokers. There were 14 subjects with wild-type homozygous A/A, 97 with heterozygous A/G, and 3 with homozygous mutated G/G in the cancer group versus 81 subjects with wild-type homozygous A/A and 33 with heterozygous A/G in the control group. The presence of the G allele (OR 5.14, 95%CI 3.15–10.80) was associated with an increased risk of colorectal cancer (p=0.001). The prevalence of smokers was higher in the cancer group (p=0.047, OR 1.71, 95%CI 1.03–3.11). Conclusion These results suggest a positive association between the A→G polymorphism and the risk of colorectal cancer. In addition, smoking was also a colorectal cancer risk. We did not find any correlation between this polymorphism and sex, grade of differentiation, stage, or evolution of the disease.

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LEPR polymorphisms and haplotypes in Mexican patients with colorectal cancer

Biomédica ◽

10.7705/biomedica.v39i1.4091 ◽

2019 ◽

Vol 39 (1) ◽

pp. 205-211

Author(s):

Miriam Partida ◽

Melva Gutiérrez ◽

María De la Luz Ayala ◽

Nelly Margarita Macías ◽

Carlos Rogelio Alvizo ◽

...

Keyword(s):

Colorectal Cancer ◽

Linkage Disequilibrium ◽

Odds Ratio ◽

Gene Polymorphisms ◽

Cancer Development ◽

Sporadic Colorectal Cancer ◽

Heterozygous Genotype ◽

Increased Risk ◽

Haplotype Frequencies ◽

Hardy Weinberg Equilibrium

Introduction: Obesity and colorectal cancer could be linked by adipocytokines, which are proteins associated with cell proliferation. High levels of the adipocytokine leptin promote the development of colorectal cancer through its receptor.Objective: To determine the association between c.326A>G and c.668A>G LEPR gene polymorphisms and colorectal cancer.Materials and methods: DNA was extracted from the peripheral blood of 147 patients with sporadic colorectal cancer and 134 healthy people. Genotypes were obtained by PCRRFLP and the association was determined by the odds ratio (OR) test using the SPSS™, version 10.0, program. Haplotype frequencies and linkage disequilibrium were estimated by the Arlequin, version 3.5, software.Results: Both polymorphisms were in Hardy-Weinberg equilibrium. Only the c.326A>G heterozygous genotype revealed an increased risk for colorectal cancer development (OR=1.81, 95% CI=1.04-3.16, p=0.04). The AG haplotype showed a significant association with colorectal cancer (OR=0.58, 95% CI=0.35-0.96, p<0.03). Linkage disequilibrium between the variants was only evident for the patients group (r2=0.36). Conclusion: Our results suggest that AG individuals heterozygous for the c.326A>G LEPR variant have a higher risk of colorectal cancer development whereas the AG haplotype (c.326A/c.668G) has a protective effect in the Mexican population.

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