MassArray analysis of genomic susceptibility variants in ovarian cancer

Ovarian cancer (OC), a multifaceted and genetically heterogeneous malignancy is one of the most common cancers among women. The aim of the study is to unravel the genetic factors associated with OC and the extent of genetic heterogeneity in the populations of Jammu and Kashmir (J&K).Using the hi...

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Bibliographic Details
Published in:Scientific reports 2020-12, Vol.10 (1), p.21101-21101, Article 21101
Main Authors: Verma, Sonali, Sharma, Indu, Sharma, Varun, Bhat, Amrita, Shah, Ruchi, Bhat, Gh. Rasool, Sharma, Bhanu, Bakshi, Divya, Nagpal, Ashna, Wakhloo, Ajay, Bhat, Audesh, Kumar, Rakesh
Format: Article
Language:English
Subjects:
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Age determination
AKT1 protein
Alleles
Case-Control Studies
ERCC1 protein
Female
Fibroblast growth factor receptor 2
Gene Frequency
Genetic diversity
Genetic factors
Genetic Predisposition to Disease
Genetic variance
Genetic Variation
Genome, Human
Genomic analysis
Glutathione transferase
Heterogeneity
Humanities and Social Sciences
Humans
Malignancy
Middle Aged
Molecular Sequence Annotation
multidisciplinary
Oligonucleotide Array Sequence Analysis
Ovarian cancer
Ovarian Neoplasms - genetics
Polymorphism, Single Nucleotide - genetics
Population genetics
Science
Science (multidisciplinary)
Single-nucleotide polymorphism
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Summary:Ovarian cancer (OC), a multifaceted and genetically heterogeneous malignancy is one of the most common cancers among women. The aim of the study is to unravel the genetic factors associated with OC and the extent of genetic heterogeneity in the populations of Jammu and Kashmir (J&K).Using the high throughput Agena MassARRAY platform, present case control study was designed which comprises 200 histopathological confirmed OC patients and 400 age and ethnicity matched healthy controls to ascertain the association of previously reported eleven single nucleotide polymorphisms (SNPs) spread over ten genes ( DNMT3A, PIK3CA, FGFR2, GSTP1, ERCC5, AKT1, CASC16, CYP19A1, BCL2 and ERCC1 ) within the OC population of Jammu and Kashmir, India. The association of each variant was estimated using logistic regression analyses. Out of the 11 SNPs the odds ratio observed for three SNPs; rs2699887 was (1.72 at 95% CI: 1.19–2.48, p  = 0.004), rs1695 was (1.87 at 95% CI: 1.28–2.71, p  = 0.001), and rs2298881 was (0.66 at 95% CI: 0.46–0.96, p  = 0.03) were found significantly associated with the OC after correction with confounding factors i.e. age & BMI. Furthermore, the estimation of interactive analyses was performed and odds ratio observed was 2.44 (1.72–3.47), p value 
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-020-76491-7