MassArray analysis of genomic susceptibility variants in ovarian cancer

Abstract

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 < 0. 001 suggests that there was a strong existence of interplay between the selected genetic variants in OC, which demonstrate that interactive analysis highlights the role of gene–gene interaction that provides an insight among multiple little effects of various polymorphisms in OC.

Exome sequencing identifies ADGRG4 G‐protein‐coupled receptors gene as a novel cancer biomarker in ovarian cancer patients from North India

“…Through an extensive literature review, it became evident that very few studies have been published to date on the genetic screening of ovarian cancer in females from North Indian region of Jammu and Kashmir; We have previously explored the role of various gene variants with different cancers, prevalent in this region and reported many variants having a significant association with some cancers. [12][13][14][15] However, till date, there has been a notable lack of exploration regarding the role of GPCRs in ovarian cancer. GPCRs, known for their crucial involvement in cellular signaling, have been recognized as key players in various physiological and pathological processes.…”