![]() Replication studies are important to enhance the credibility of a study. Although the incidence rate of EC is very high, yet the data related to the genetics of ESCC in the studied population is meager. J&K is an ignored state owing to its peculiar geographical background and political circumstances. ![]() We attempted to investigate the role of cancer-related genetic variants in ESCC within the population of J&K. The remaining 5% include rare malignancies. 90% of esophageal cancers are ESCC (esophageal squamous cell carcinoma) and about 5% are EAC (esophageal adenocarcinoma) throughout the world. ![]() ![]() Genetics is one of the major risk factors associated with EC which includes loss and gain of chromosomes, gene amplification, and microsatellite instability. Kashmir valley is another state with the highest incidence of EC. In India, the Northeastern states like Assam, Meghalaya, Mizoram, and Nagaland tops the chart about EC, for both men and women. About 70% of cases have been observed in men, and there is a 2–3 fold difference in incidence and mortality rates between the sexes worldwide. According to a survey by GLOBOCAN in 2018 about 572,034 of new cases and 508,585 deaths were reported worldwide about EC. Various risk factors have been associated with EC which include lifestyle, dietary habits, low socio-economic status, poor oral hygiene, and genetics. This study explores the relation of genetic and environmental factors with the ESCC susceptibility.Įsophageal cancer (EC) is the most common type of cancer worldwide but is least studied with poor survival and highly aggressive nature. This is the first study to find the relation of these SNPs with ESCC within the studied population. We explored 12 SNPs that were found to be associated with multiple cancers in literature with esophageal cancer within the population of J&K. Out of 12 SNPs, two SNPs rs12190287 of TCF21 and rs10046 of CYP19A1 were significantly associated with esophageal cancer with Odds Ratio (OR) 1.412 (1.09–1.8 at 95% CI, p = 0.008) and 1.54 (1.21–2.072 at 95% CI, p = 0.0007) within the population of Jammu and Kashmir. This is the first study to explore these SNPs with esophageal cancer within the J&K population. The 12 studied SNPs were chosen with a rationale for their association with multiple cancers in literature. We have performed multiplex PCR and genotyped 12 SNPs in 758 samples (166 cases and 592 controls). In the present study, we have incorporated the use of matrix-assisted laser desorption/ionization-time of flight, mass spectrometry (MALDI-TOF) as a tool for differentiating genotypes based on the mass of variant. SNP-genotyping through MassARRAY is not only a cost-effective genotyping method but also provides a platform to validate variants observed through a high-throughput Next-generation sequencing (NGS). SNPs (Single Nucleotide Polymorphisms) have a very high potential of discovering disease-gene relationships.
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