Dataset Information

Association of miRNA 30c, miRNA 181a and miRNA 570 SNPs with Bladder Cancer Risk in North Indian Population: A Pilot Study.

ABSTRACT: miRNA play role in post transcriptional regulation of genes and serves a range of biological functions such as initiation, development, metastasis etc. which are also hallmarks of cancer. Hence, we evaluated miRNA 181a, miRNA 30c and miRNA 570 in bladder cancer risk association among North Indians. miRNA 570 C/G (rs4143815), miRNA 30c A/G (rs928508) and miRNA 181a C/T (rs12537) single nucleotide polymorphisms (SNPs) were genotyped by allelic discrimination TaqMan assay in 100 bladder cancer (BC) patients and 100 healthy controls. No significant difference was found in the genotype frequencies of the candidate SNPs among cases and controls. However, combined effect of miRNA 570-miRNA 30c (CG + AA) p = 0.005, OR = 0.223, 95% CI and miRNA 570-miRNA 181a (CG + CC) p = 0.003, OR = 0.169, 95% CI conferred association with no risk of BC. miRNA 181a C/T (rs12537), miRNA 30c A/G (rs928508) and miRNA 570 C/G (rs4143815) should be further validated in large sample size to be used as a risk predictor for bladder cancer among North Indians.

SUBMITTER: Verma A

PROVIDER: S-EPMC7994493 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Association of <i>miRNA 30c, miRNA 181a</i> and <i>miRNA 570</i> SNPs with Bladder Cancer Risk in North Indian Population: A Pilot Study.

Verma Archana A Mittal Rama Devi RD

Indian journal of clinical biochemistry : IJCB 20200404 2

miRNA play role in post transcriptional regulation of genes and serves a range of biological functions such as initiation, development, metastasis etc. which are also hallmarks of cancer. Hence, we evaluated miRNA 181a, miRNA 30c and miRNA 570 in bladder cancer risk association among North Indians. miRNA 570 C/G (rs4143815), miRNA 30c A/G (rs928508) and miRNA 181a C/T (rs12537) single nucleotide polymorphisms (SNPs) were genotyped by allelic discrimination TaqMan assay in 100 bladder cancer (BC) ...[more]

PMID: 33867710

Similar Datasets

Project description:BackgroundTo determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS).MethodsAfter pre-test counselling, 200 unrelated individuals (including 88 couples) were screened for pathogenic variants in 88 genes by NGS technology. The variants were classified as per American College of Medical Genetics criteria. Pathogenic and likely pathogenic variants were subjected to thorough literature-based curation in addition to the regular filters. Variants of unknown significance were not reported. Individuals were counselled explaining the implications of the results, and cascade screening was advised when necessary.ResultsOf the 200 participants, 52 (26%) were found to be carrier of one or more disorders. Twelve individuals were identified to be carriers for congenital deafness, giving a carrier frequency of one in 17 for one of the four genes tested (SLC26A4, GJB2, TMPRSS3 and TMC1 in decreasing order). Nine individuals were observed to be carriers for cystic fibrosis, with a frequency of one in 22. Three individuals were detected to be carriers for Pompe disease (frequency one in 67). None of the 88 couples screened were found to be carriers for the same disorder. The pathogenic variants observed in many disorders (such as deafness, cystic fibrosis, Pompe disease, Canavan disease, primary hyperoxaluria, junctional epidermolysis bullosa, galactosemia, medium chain acyl CoA deficiency etc.) were different from those commonly observed in the West.ConclusionA higher carrier frequency for genetic deafness, cystic fibrosis and Pompe disease was unexpected, and contrary to the generally held view about their prevalence in Asian Indians. In spite of the small sample size, this study would suggest that population-based carrier screening panels for India would differ from those in the West, and need to be selected with due care. Testing should comprise the study of all the coding exons with its boundaries in the genes through NGS, as all the variants are not well characterized. Only study of entire coding regions in the genes will detect carriers with adequate efficiency, in order to reduce the burden of genetic disorders in India and other resource poor countries.

Project description:BackgroundSmoking has been considered to be the major cause of lung cancer. However, only a fraction of cigarette smokers develop this disease. This suggests the importance of genetic constitution in predicting the individual's susceptibility towards lung cancer. This genetic susceptibility may result from inherited polymorphisms in genes controlling carcinogen metabolism and repair of damaged deoxyribonucleic acid (DNA). These repair systems are fundamental to the maintenance of genomic integrity. X-ray repair cross complimenting group I (XRCC1), a major DNA repair gene in the base excision repair (BER) pathway. It is involved in repair by interacting with components of DNA at the site of damage. Inconsistent results have been reported regarding the associations between the Arg399Gln polymorphism of XRCC1. This study demonstrates the importance of recognition of this relationship of lung carcinoma and genetic constitution of the person which will help guide clinicians on the optimal screening of this disease.AimTo assess the role of XRCC1 gene polymorphism (Arg399Gln) directly on the variation in susceptibility to development of lung cancer in North Indian subjects.Materials and methodsOne hundred males with diagnosed cases of lung cancer were recruited from Delhi State Cancer Institute (DSCI). Hundred healthy volunteers were taken as controls. DNA isolation was done and Polymerase chain reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) procedure undertaken to amplify the region containing Arg/Gln substitution at codon 399 (in exon 10).ResultsXRCC1 gene polymorphism is associated with increased risk of lung cancer when the Arg/Arg genotype was used as the reference group. The Arg/Gln and Gln/Gln was associated with statistically increased risk for cancer.ConclusionArg399Gln polymorphism in XRCC1 gene polymorphism is associated with lung cancer in North Indian subjects and screening for this polymorphism will help in targeting predisposed individuals and its prevention.

Dataset Information

Association of miRNA 30c, miRNA 181a and miRNA 570 SNPs with Bladder Cancer Risk in North Indian Population: A Pilot Study.

Publications

Association of <i>miRNA 30c, miRNA 181a</i> and <i>miRNA 570</i> SNPs with Bladder Cancer Risk in North Indian Population: A Pilot Study.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets