DNA repair gene polymorphisms at XRCC1, XRCC3, XPD, and OGG1 loci in Maharashtrian population of central India (original) (raw)
Related papers
BIC, 2014
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.
DNA Repair Gene Polymorphisms at XRCC1, XRCC3, XPD
Background: DNA repair is one of the crucial defense mechanism against mutagenic exposure. Inherited SNPs of DNA repair genes may contribute to variation in DNA repair capacity and susceptibility to cancer. Due to the presence of these variants, inter-individual and ethnic differences in DNA repair capacity have been established in various populations. India harbors enormous genetic and cultural diversity. Materials and Methods: In the present study we aimed to determine the genotypes and allele frequencies of XRCC1 Arg399Gln (rs25487), XRCC3 Thr241Met (rs861539), XPD Lys751Gln (rs13181), and OGG1 Ser326Cys (rs1052133) gene polymorphisms in 186 healthy individuals residing in the Hyderabad region of India and to compare them with HapMap and other populations. Results and Conclusions: The genotype and allele frequency distribution at the four DNA repair gene loci among Hyderabad population of India revealed a characteristic pattern. Comparison of these gene polymorphisms with other populations revealed a distinctiveness of Hyderabad population from the Deccan region of India. To the best of our knowledge, this is the first report of such DNA repair gene polymorphisms in the Deccan Indian population.
Biological Research, 2013
DNA repair is one of the central defense mechanisms against mutagenic exposures. Inherited SNPs of DNA repair genes may contribute to variations in DNA repair capacity and susceptibility to cancer. Due to the presence of these variants, inter-individual and ethnic diff erences in DNA repair capacity have been established in various populations. Saudi Arabia harbors enormous genetic and cultural diversity. In the present study we aimed to determine the genotype and allele frequencies of XRCC1 Arg399Gln (rs25487), XRCC3 Thr241Met (rs861539), XPD Lys751Gln (rs13181), and OGG1 Ser326Cys (rs1052133) gene polymorphisms in 386 healthy individuals residing in the central region of Saudi Arabia and compare them with HapMap and other populations. The genotype and allele frequencies of the four DNA repair gene loci in central Saudi population showed a distinctive pattern. Furthermore, comparison of polymorphisms in these genes with other populations also showed a unique pattern for the central Saudi population. To the best of our knowledge, this is the fi rst report that deals with these DNA repair gene polymorphisms among the central Saudi population.
Asian Pacific journal of cancer prevention : APJCP, 2015
Genetic polymorphisms in DNA repair genes may influence individual variation in DNA repair capacity, which may be associated with risk of developing cancer. For colorectal cancer the importance of mutations in mismatch repair genes has been extensively documented. In this study we focused on the Arg194Trp polymorphism of the DNA repair gene XRCC1, involved in base excision repair (BER) and its role in colorectal cancer in Kashmiri population. A case-control study was conducted including 100 cases of colorectal cancer, and 100 hospital-based age- and sex-matched healthy controls to examine the role of XRCC1 genetic polymorphisms in the context of colorectal cancer risk for the Kashmiri population. Genotype analysis of XRCC1 Arg194Trp was conducted with a restriction fragment length polymorphism (RFLP) method. The overall association between the XRCC1 polymorphism and the CRC cases was found to be significant (p<0.05) with both the heterozygous genotype (Arg/Trp) as well as homozyg...
https://www.ijhsr.org/IJHSR\_Vol.7\_Issue.2\_Feb2017/IJHSR\_Abstract.044.html, 2017
Background & Objectives: Breast cancer is a major concern of health risk, moreover the leading cause of cancer causing deaths in women of rural parts of India. In this study, we focused to determine the frequency of polymorphisms in DNA repair genes, XRCC1 at codon (cd) 194, cd 280, cd 399, XRCC 2 at cd 188 and XRCC3 at cd 241 to evaluate their role in breast cancer risk. Methods: We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to analyze XRCC genes polymorphisms in 150 breast cancer women and 200 age matched disease-free controls. Results: The result from our study showed that allele frequencies of selected genes were not statistically different between the groups for XRCC1 Trp194, Gln399, XRCC2 His188 and XRCC3 Met241. XRCC1 His280 (OR= 4.14; 95% CI= (2.63-6.53); p= <0.0001) genotype significantly increased the risk of breast cancer. Interpretation & conclusions: This study indicates that polymorphisms in cd280 of XRCC1 gene could play a role in modifying genetic susceptibility of individuals towards breast cancer among women from rural Maharashtra. It is apparent from our findings that larger part of the female had age at first delivery lower than 20 years which could be the probable risk factor for development of breast cancer. Thus, the case-control study suggest that selected DNA repair genes represent genetic determinants in breast carcinogenesis along with other risk factors in the rural Indian population.
https://www.ijhsr.org/IJHSR\_Vol.7\_Issue.7\_July2017/IJHSR\_Abstract.040.html, 2017
Breast cancer is a major concern of women health in developing countries, including India. This study was aimed to determine the polymorphisms in DNA repair gene, Xeroderma pigmentosum complementation group D (XPD) at codon (cd) 156, cd199, cd320, cd751 in patients of breast cancer from Maharashtra and to evaluate their association with breast cancer development. Methods: We conducted a case control study including 170 breast cancer cases and 200 hospital based age and sex matched healthy controls to estimate the role of genetic polymorphisms of XPD gene in the context of breast cancer risk for the Maharashtrian population. We used PCR-RFLP to analyze XPD gene polymorphisms. Results: The result from our study showed that allele frequencies of selected genes were not statistically different between the groups for XPD Arg156, XPD Met199, XPD Gln751 except XPD312. XPD Asn312 (OR= 5.14; 95% CI= (3.04-8.69); p= <0.0001) genotype significantly increased the risk of breast cancer. Conclusions: This study indicates that polymorphisms in cd320 of XPD gene could play a role in modifying genetic susceptibility of individual to breast cancer in Maharashtra patients.
Breast Cancer Research and Treatment, 2020
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Distribution of XRCC1 genotypes in north Indian population
The Indian journal of medical research, 2010
XRCC1, a major DNA repair gene, acts as a scaffold of different activities involved in repair by interacting with components of base excision repair (BER) at the site of damage. Polymorphisms in this gene are associated with variations in the repair efficiency which might predispose an individual to cancer risk. To associate a gene polymorphism with disease risk, it is imperative to have the data for its genotype distribution in normal population. The present study was therefore carried out to find distribution of XRCC1 polymorphisms (codons 194, 280 and 399) in normal north Indian population. Healthy volunteers hailing from north India (150) were enrolled in the study. DNA was isolated from blood samples and genotyping of codons 194, 280 and 399 of XRCC1 gene was done by PCR- restriction fragment length polymorphism (RFLP), using specific primers. The frequencies obtained for heterozygous genotype of codons 194 and 399 were 45 and 49 per cent respectively and were higher than wild ...
Journal of Cancer Research and Clinical Oncology, 2010
Purpose Genetic polymorphisms in DNA repair genes may inXuence variations in individual DNA repair capacity, which could be associated with the development of cancer. We detected the distributions of three single-nucleotide polymorphisms (XRCC1 Arg399Gln, XRCC3 Thr241Met and XPD Lys751Gln) in DNA repair genes, and assessed the associations of these genetic polymorphisms with colon and rectal cancer susceptibility as well as evaluated the interactions of gene-gene and gene-environment in a casecontrol study of an Indian population. Methods This case-control study was conducted with 302 cases (including 59 colon and 243 rectal cancer patients) and 291 cancer-free healthy controls. Genotypes were determined by PCR-RLFP assays. The eVects [odds ratios (ORs) and 95% conWdence intervals (95% CIs)] of genetic polymorphisms on colorectal cancer were estimated using unconditional logistic regression. Results The XRCC1 399Gln allele was found to be associated with a signiWcantly increased rectal cancer risk among men (OR = 1.65, 95% CI 1.04-2.64). Whereas the XRCC3 241Met allele showed a protective tendency against rectal cancer (OR = 0.68, 95% CI 0.46-1.02) for both men and women. Furthermore, a combination of the XRCC1 399Gln allele with XRCC3 Thr/Thr genotype and the XPD 751Gln allele demonstrated the highest rectal cancer risk (OR = 3.52, 95% CI 1.43-9.44). Conclusions The combined eVects of putative risk alleles/ genotypes for diVerent DNA repair pathways may strengthen the susceptibility to rectal cancer.
Technology in Cancer Research & Treatment
X-ray repair cross complementary group gene is one of the most studied candidate gene involved in different types of cancers. Studies have shown that X-ray repair cross complementary genes are significantly associated with increased risk of breast cancer in females. Moreover, studies have revealed that X-ray repair cross complementary gene polymorphism significantly varies between and within different ethnic groups globally. The present case-control study was aimed to investigate the association of X-ray repair cross complementary 1A (Arg194Trp) and X-ray repair cross complementary 3 (Thr241Met) polymorphism with the risk of breast cancer in females from northeastern region of India. The present case-control study includes histopathologically confirmed and newly diagnosed 464 cases with breast cancer and 534 apparently healthy neighborhood community controls. Information on sociodemographic factors and putative risk factors were collected from each study participant by conducting faceto-face interviews. Genotyping of X-ray repair cross complementary 1A (Arg194Trp) and X-ray repair cross complementary 3 (Thr241Met) was carried out by polymerase chain reaction-restriction fragment length polymorphism. For statistical analysis, both univariate and multivariate logistic regression analyses were performed. We also performed stratified analysis to find out the association of X-ray repair cross complementary genes with the risk of breast cancer stratified based on menstrual status. This study revealed that tryptophan allele (R/W-W/W genotype) in X-ray repair cross complementary 1A (Arg194Trp) gene significantly increased the risk of breast cancer (adjusted odds ratio ¼ 1.44, 95% confidence interval ¼ 1.06-1.97, P < .05 for R/W-W/W genotype). Moreover, it was found that tryptophan allele (W/W genotype) at codon 194 of X-ray repair cross complementary 1A (Arg194Trp) gene significantly increased the risk of breast cancer in premenopausal females (crude odds ratio ¼ 1.66, 95% confidence interval ¼ 1.11-2.46, P < .05 for R/W-W/W genotype). The present study did not reveal any significant association of X-ray repair cross complementary 3 (Thr241Met) polymorphism with the risk of breast cancer. The present study has explored that X-ray repair cross complementary 1A (Arg194Trp) gene polymorphism is significantly associated with the increased risk of breast cancer in premenopausal females from northeastern region of India which may be beneficial for prognostic purposes.