MassARRAY analysis of twelve cancer related SNPs in esophageal squamous cell carcinoma in J&K, India

印度查谟和克什米尔地区食管鳞状细胞癌 12 种癌症相关 SNP 的 MassARRAY 分析

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作者:Ruchi Shah, Varun Sharma, Amrita Bhat, Hemender Singh, Indu Sharma, Sonali Verma, Gh Rasool Bhat, Bhanu Sharma, Divya Bakshi, Rakesh Kumar, Nazir Ahmed Dar

Background

MassARRAY (Agena Bioscience™) combines competitive PCR with MALDI-TOF mass spectrometry (MS) analysis that gives highly accurate, sensitive, and high-throughput

Conclusion

We explored 12 SNPs that were found to be associated with multiple cancers in literature with esophageal cancer within the population of J&K. This is the first study to find the relation of these SNPs with ESCC within the studied population. This study explores the relation of genetic and environmental factors with the ESCC susceptibility.

Methods

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. We have performed multiplex PCR and genotyped 12 SNPs in 758 samples (166 cases and 592 controls). The 12 studied SNPs were chosen with a rationale for their association with multiple cancers in literature.

Results

This is the first study to explore these SNPs with esophageal cancer within the J&K population. 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.

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