scholarly journals DNA Repair Gene Polymorphisms and Chromosomal Aberrations in Exposed Populations

2021 ◽  
Vol 12 ◽  
Author(s):  
Yasmeen Niazi ◽  
Hauke Thomsen ◽  
Bozena Smolkova ◽  
Ludmila Vodickova ◽  
Sona Vodenkova ◽  
...  
Keyword(s):  
Dna Repair ◽  
Chromosomal Aberrations ◽  
Gene Polymorphisms ◽  
Excision Repair ◽  
Association Studies ◽  
Peripheral Blood Lymphocytes ◽  
Mismatch Repair Gene ◽  
Genome Wide Association Studies ◽  
Repair Gene ◽  
Dna Repair Gene

DNA damage and unrepaired or insufficiently repaired DNA double-strand breaks as well as telomere shortening contribute to the formation of structural chromosomal aberrations (CAs). Non-specific CAs have been used in the monitoring of individuals exposed to potential carcinogenic chemicals and radiation. The frequency of CAs in peripheral blood lymphocytes (PBLs) has been associated with cancer risk and the association has also been found in incident cancer patients. CAs include chromosome-type aberrations (CSAs) and chromatid-type aberrations (CTAs) and their sum CAtot. In the present study, we used data from our published genome-wide association studies (GWASs) and extracted the results for 153 DNA repair genes for 607 persons who had occupational exposure to diverse harmful substances/radiation and/or personal exposure to tobacco smoking. The analyses were conducted using linear and logistic regression models to study the association of DNA repair gene polymorphisms with CAs. Considering an arbitrary cutoff level of 5 × 10–3, 14 loci passed the threshold, and included 7 repair pathways for CTA, 4 for CSA, and 3 for CAtot; 10 SNPs were eQTLs influencing the expression of the target repair gene. For the base excision repair pathway, the implicated genes PARP1 and PARP2 encode poly(ADP-ribosyl) transferases with multiple regulatory functions. PARP1 and PARP2 have an important role in maintaining genome stability through diverse mechanisms. Other candidate genes with known roles for CSAs included GTF2H (general transcription factor IIH subunits 4 and 5), Fanconi anemia pathway genes, and PMS2, a mismatch repair gene. The present results suggest pathways with mechanistic rationale for the formation of CAs and emphasize the need to further develop techniques for measuring individual sensitivity to genotoxic exposure.

scholarly journals Are SNP-Smoking Association Studies Needed in Controls? DNA Repair Gene Polymorphisms and Smoking Intensity

PLoS ONE ◽  
2015 ◽  
Vol 10 (5) ◽  
pp. e0129374 ◽  
Author(s):  
Zoraida Verde ◽  
Luis Reinoso ◽  
Luis Miguel Chicharro ◽  
Pilar Resano ◽  
Ignacio Sánchez-Hernández ◽  
...  
Keyword(s):  
Dna Repair ◽  
Gene Polymorphisms ◽  
Association Studies ◽  
Repair Gene ◽  
Smoking Intensity ◽  
Dna Repair Gene

scholarly journals Allele and Genotype Distributions of DNA Repair Gene Polymorphisms in South Indian Healthy Population

2014 ◽  
Vol 6 ◽  
pp. BIC.S19681 ◽  
Author(s):  
Katiboina Srinivasa Rao ◽  
Abialbon Paul ◽  
Annan Sudarsan Arun Kumar ◽  
Gurusamy Umamaheswaran ◽  
Biswajit Dubashi ◽  
...  
Keyword(s):  
Dna Repair ◽  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Association Studies ◽  
Healthy Population ◽  
Repair Gene ◽  
South Indian ◽  
Dna Repair Gene ◽  
Genes Encoding ◽  
Hapmap Populations

Various DNA repair pathways protect the structural and chemical integrity of the human genome from environmental and endogenous threats. Polymorphisms of genes encoding the proteins involved in DNA repair have been found to be associated with cancer risk and chemotherapeutic response. In this study, we aim to establish the normative frequencies of DNA repair genes in South Indian healthy population and compare with HapMap populations. Genotyping was done on 128 healthy volunteers from South India, and the allele and genotype distributions were established. The minor allele frequency of Xeroderma pigmentosum group A ( XPA) G23A, Excision repair cross-complementing 2 ( ERCC2)/Xeroderma pigmentosum group D ( XPD) Lys751Gln, Xeroderma pigmentosum group G ( XPG) His46His, XPG Asp1104His, and X-ray repair cross-complementing group 1 ( XRCC1) Arg399Gln polymorphisms were 49.2%, 36.3%, 48.0%, 23.0%, and 34.0% respectively. Ethnic variations were observed in the frequency distribution of these polymorphisms between the South Indians and other HapMap populations. The present work forms the groundwork for cancer association studies and biomarker identification for treatment response and prognosis.

scholarly journals DNA repair gene polymorphisms and chromosomal aberrations in healthy, nonsmoking population

DNA Repair ◽  
2021 ◽  
pp. 103079
Author(s):  
Yasmeen Niazi ◽  
Hauke Thomsen ◽  
Bozena Smolkova ◽  
Ludmila Vodickova ◽  
Soňa Vodenkova ◽  
...  
Keyword(s):  
Dna Repair ◽  
Chromosomal Aberrations ◽  
Gene Polymorphisms ◽  
Repair Gene ◽  
Dna Repair Gene

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

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. 

Links between DNA-repair gene polymorphisms and chromosomal aberrations in lung-cancer patients

2013 ◽  
Vol 28 (4) ◽  
pp. 133-136 ◽  
Author(s):  
M. L. Bakanova ◽  
V. I. Minina ◽  
Ya. A. Savchenko ◽  
A. A. Timofeeva ◽  
O. A. Dudkina ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Dna Repair ◽  
Cancer Patients ◽  
Chromosomal Aberrations ◽  
Gene Polymorphisms ◽  
Repair Gene ◽  
Lung Cancer Patients ◽  
Dna Repair Gene

Influence of DNA repair gene polymorphisms on the yield of chromosomal aberrations

2005 ◽  
Vol 46 (3) ◽  
pp. 198-205 ◽  
Author(s):  
Anne Kiuru ◽  
Carita Lindholm ◽  
Iiris Heilimo ◽  
Marcello Ceppi ◽  
Armi Koivistoinen ◽  
...  
Keyword(s):  
Dna Repair ◽  
Chromosomal Aberrations ◽  
Gene Polymorphisms ◽  
Repair Gene ◽  
Dna Repair Gene

scholarly journals Impact of ERCC2 Gene Polymorphisms on OSCC Susceptibility and Clinical Characteristics

2020 ◽  
Vol 07 (04) ◽  
pp. 121-127
Author(s):  
ML Avinash Tejasvi ◽  
Gopal Maragathavalli ◽  
Putcha Uday Kumar ◽  
M. Ramakrishna ◽  
Vijaya Raghavan ◽  
...  
Keyword(s):  
Dna Repair ◽  
Gene Polymorphisms ◽  
Excision Repair ◽  
Response To Therapy ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphisms ◽  
Repair Gene ◽  
Repair Capacity ◽  
Dna Repair Gene ◽  
Platinum Based Chemotherapy

Abstract Background DNA repair systems play an important role in maintaining the integrity of the human genome. Deficiency in the repair capacity due to either mutations or inherited polymorphisms in DNA repair genes may contribute to variations in the DNA repair capacity and subsequently susceptibility to cancer. Objectives This study aimed to investigate the association between Excision repair cross-complementation groups 2 (ERCC2) single nucleotide polymorphisms (SNPs rs1799793 and rs13181) and the response to platinum-based chemotherapy among patients with oral squamous cell carcinoma (OSCC). Methodology Polymerase chain reaction‐based restriction fragment length polymorphism analysis was used to determine the polymorphism from a total of 150 OSCC patients and 150 normal tissues of same patients were collected as controls for this study. Results ERCC2 GA (Asp312Asn) AC (Lys751Gln) genotypes were significantly associated (p = 0.0001 and p = 0.0004, respectively) with OSCC patients, when compared with the controls. These findings suggest that potentially functional SNPs in ERCC2 may contribute to OSCC risk. This study highlights the genetic variant that might play a role in mediating susceptibility to OSCC in this population. An understanding of DNA repair gene polymorphisms might not only enable risk assessment, but also response to therapy, which target the DNA repair pathway.

Patients with Systemic Sclerosis Present Increased DNA Damage Differentially Associated with DNA Repair Gene Polymorphisms

2014 ◽  
Vol 41 (3) ◽  
pp. 458-465 ◽  
Author(s):  
Gustavo Martelli Palomino ◽  
Carmen L. Bassi ◽  
Isabela J. Wastowski ◽  
Danilo J. Xavier ◽  
Yara M. Lucisano-Valim ◽  
...  
Keyword(s):  
Dna Damage ◽  
Dna Repair ◽  
Systemic Sclerosis ◽  
Blood Cells ◽  
Gene Polymorphisms ◽  
Peripheral Blood Cells ◽  
Dna Repair Genes ◽  
Repair Gene ◽  
Dna Repair Gene ◽  
Repair Genes

Objective.Patients with systemic sclerosis (SSc) exhibit increased toxicity when exposed to genotoxic agents. In our study, we evaluated DNA damage and polymorphic sites in 2 DNA repair genes (XRCC1Arg399Gln andXRCC4Ile401Thr) in patients with SSc.Methods.A total of 177 patients were studied for DNA repair gene polymorphisms. Fifty-six of them were also evaluated for DNA damage in peripheral blood cells using the comet assay.Results.Compared to controls, the patients as a whole or stratified into major clinical variants (limited or diffuse skin involvement), irrespective of the underlying treatment schedule, exhibited increased DNA damage.XRCC1(rs: 25487) andXRCC4(rs: 28360135) allele and genotype frequencies observed in patients with SSc were not significantly different from those observed in controls; however, theXRCC1Arg399Gln allele was associated with increased DNA damage only in healthy controls and theXRCC4Ile401Thr allele was associated with increased DNA damage in both patients and controls. Further, theXRCC1Arg399Gln allele was associated with the presence of antinuclear antibody and anticentromere antibody. No association was observed between these DNA repair gene polymorphic sites and clinical features of patients with SSc.Conclusion.These results corroborate the presence of genomic instability in SSc peripheral blood cells, as evaluated by increased DNA damage, and show that polymorphic sites of theXRCC1andXRCC4DNA repair genes may differentially influence DNA damage and the development of autoantibodies.

Association of XRCC1 and OGG1 DNA repair gene polymorphisms with rheumatoid arthritis in Egyptian patients

Gene ◽  
2016 ◽  
Vol 578 (1) ◽  
pp. 112-116 ◽  
Author(s):  
Randa H. Mohamed ◽  
Amal S. El-Shal ◽  
Eman E. El-Shahawy ◽  
Sahar M. Abdel Galil
Keyword(s):  
Rheumatoid Arthritis ◽  
Dna Repair ◽  
Gene Polymorphisms ◽  
Repair Gene ◽  
Dna Repair Gene ◽  
Egyptian Patients

scholarly journals Molecular cloning and chromosomal localization of DNA sequences associated with a human DNA repair gene.

1985 ◽  
Vol 5 (2) ◽  
pp. 398-405 ◽  
Author(s):  
J S Rubin ◽  
V R Prideaux ◽  
H F Willard ◽  
A M Dulhanty ◽  
G F Whitmore ◽  
...  
Keyword(s):  
Dna Repair ◽  
Dna Sequences ◽  
Chromosomal Localization ◽  
Excision Repair ◽  
Repair Process ◽  
Human Cells ◽  
Gene Products ◽  
Repair Gene ◽  
Human Dna ◽  
Dna Repair Gene

The genes and gene products involved in the mammalian DNA repair processes have yet to be identified. Toward this end we made use of a number of DNA repair-proficient transformants that were generated after transfection of DNA from repair-proficient human cells into a mutant hamster line that is defective in the initial incision step of the excision repair process. In this report, biochemical evidence is presented that demonstrates that these transformants are repair proficient. In addition, we describe the molecular identification and cloning of unique DNA sequences closely associated with the transfected human DNA repair gene and demonstrate the presence of homologous DNA sequences in human cells and in the repair-proficient DNA transformants. The chromosomal location of these sequences was determined by using a panel of rodent-human somatic cell hybrids. Both unique DNA sequences were found to be on human chromosome 19.

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