Dataset Information

Statistically significant association of the single nucleotide polymorphism (SNP) rs13181 (ERCC2) with predisposition to Squamous Cell Carcinomas of the Head and Neck (SCCHN) and Breast cancer in the north Indian population.

ABSTRACT: BACKGROUND: Non-synonymous single nucleotide polymorphisms (SNPs) within vital DNA repair genes may cause reduction of activity leaving the genome unrepaired resulting in genomic instability and cancer. MATERIALS AND METHODS: The present endeavour involved study on the association of the SNP rs13181 (Lys751Gln/A18911C) in the Nucleotide Excision Repair (NER) pathway gene ERCC2 (excision repair cross-complementing rodent repair deficiency, complementation group 2) with the risks of Squamous Cell Carcinomas of the Head and Neck (SCCHN) and Breast cancer using a case-control based association study among 685 (400 controls and 285 SCCHN-affected cases) and 395 (227 normal healthy female controls and 168 breast cancer cases) ethnically-matched samples, respectively from north India using Polymerase Chain Reaction followed by Restriction Fragment Length Polymorphism (PCR-RFLP) analysis. RESULTS: Results showed significant association of rs13181 homozygous mutant (CC) [Odds Ratio (OR) 4.412, 95% Confidence Interval (CI) 2.413 to 8.068], heterozygous (AC) (OR 2.086, 95% CI 1.246 to 3.492) and combined mutant (AC + CC) (OR 2.672, 95% CI 1.647 to 4.334) genotypes with predisposition to Breast cancer. Statistically significant increase in SCCHN risk was also associated with the mutant genotypes of rs13181 (ERCC2), viz. homozygous mutant (CC) (OR 1.680, 95% CI 1.014 to 2.784), heterozygous (AC) (OR 1.531, 95% CI 1.092 to 2.149) and combined mutant (AC + CC) (OR 1.560, 95% CI 1.128 to 2.158) genotypes. CONCLUSION: The results of this case-control study indicate that the polymorphism rs13181 might be a risk factor for predisposition towards SCCHN and breast cancer among north Indian subpopulations.

SUBMITTER: Mitra AK

PROVIDER: S-EPMC2724389 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Statistically significant association of the single nucleotide polymorphism (SNP) rs13181 (ERCC2) with predisposition to Squamous Cell Carcinomas of the Head and Neck (SCCHN) and Breast cancer in the north Indian population.

Mitra Amit Kumar AK Singh Neetu N Garg Vivek Kumar VK Chaturvedi Rashmi R Sharma Mandira M Rath Srikanta Kumar SK

Journal of experimental & clinical cancer research : CR 20090718

<h4>Background</h4>Non-synonymous single nucleotide polymorphisms (SNPs) within vital DNA repair genes may cause reduction of activity leaving the genome unrepaired resulting in genomic instability and cancer.<h4>Materials and methods</h4>The present endeavour involved study on the association of the SNP rs13181 (Lys751Gln/A18911C) in the Nucleotide Excision Repair (NER) pathway gene ERCC2 (excision repair cross-complementing rodent repair deficiency, complementation group 2) with the risks of S ...[more]

PMID: 19615095

Similar Datasets

Project description:Glioma is the most common type of primary brain tumour which accounts for about 30% of all brain and central nervous system tumours, and approximately 70% of adult malignant brain tumours. Numerous studies have been performed to assess the relationship between ERCC2 rs13181 polymorphism and the risk of glioma development, yet these findings of these studies are often inconsistent and contradictory. Therefore, the aim of this study is to conduct a systematic review and meta-analysis to assess the role of ERCC2 rs13181 in glioma developing. In this work, we have conducted a systematic review and meta-analysis. In order to collect the results of relevant studies on the association of ERCC2 rs13181 gene polymorphism with glioma, we initially searched the Scopus, Embase, Web of Science (WoS), PubMed, and ScienceDirect databases, without a lower time limit, and until June 2020. In order to analyse the eligible studies, the random effects model was used and the heterogeneity of the studies was investigated with the I 2 index. Data analysis was performed within the Comprehensive Meta-Analysis software (version 2). The total number of studies that focused on patients with glioma was 10. The odds ratio of GG vs TT genotype in patients with glioma based on meta-analysis was 1.08 (0.85-1.37: 95% confidence interval), which indicates the increasing effect of GG vs TT genotype by 0.08. The odds ratio of GG + TG vs TT genotype in patients with glioma was 1.22 (1.38-1.7: 95% confidence interval) based on meta-analysis, which indicates the increasing effect of GG + TG vs TT genotype as 0.22. The odds ratio of TG vs TT genotype in patients with glioma was 1.2 (0.38-1.4: 95% confidence interval), which shows the increasing effect of TG vs TT genotype by 0.2. The odds ratio of G vs T genotype in patients with glioma based on the meta-analysis was 1.15 (1.26-1.4: 95% confidence interval), which indicates the increasing effect of G vs T genotype by 0.15. The odds ratio of GG vs TG + TT genotype in patients with glioma based on meta-analysis was 1.22 (1.33-1.45: 95% confidence interval), which indicates the increasing effect of GG vs TG + TT genotype by 0.22. The results of this systematic review and meta-analysis show that ERCC2 rs13181 polymorphism and its genotypes are an important risk factor for genetic susceptibility to glioma tumour.

Dataset Information

Statistically significant association of the single nucleotide polymorphism (SNP) rs13181 (ERCC2) with predisposition to Squamous Cell Carcinomas of the Head and Neck (SCCHN) and Breast cancer in the north Indian population.

Publications

Statistically significant association of the single nucleotide polymorphism (SNP) rs13181 (ERCC2) with predisposition to Squamous Cell Carcinomas of the Head and Neck (SCCHN) and Breast cancer in the north Indian population.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets