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Aim: In this study, we evaluated the association of rs6964823 of the Ikaros Family Zinc Finger 1 (IKZF1) gene with the risk of colorectal cancer (CRC) within the population of Jammu and Kashmir (J and K). Materials and Methods: The variant rs6964823 of the IKZF1 gene was genotyped using the TaqMan allele discrimination assay for 578 individuals (182 CRC cases and 396 healthy controls). The association of single-nucleotide polymorphisms with the disease was evaluated using logistic regression. Results: It was observed that the variant rs6964823 (IKZF1) showed a significant association with an adjusted allelic odds ratio (OR) of 1.74 (1.34–2.27) at 95% confidence interval (CI), P ≤ 0.05. The dominant model (AA + AG vs. GG) was also applied, where the adjusted OR was 3.096 (2.011–4.76) at 95% CI, P > 0.05. Conclusions: It was found that the variant rs6964823 of the IKZF1 gene is associated with a higher risk of CRC within the population of J and K.

Background SNP genotyping has become increasingly more common place to understand the genetic basis of complex diseases like cancer. SNP-genotyping through massARRAY is a cost-effective method to quantitatively analyse the variation of gene expression in multiple samples, making it a potential tool to identify the underlying causes of colorectal carcinogenesis. Methods In the present study, SNP genotyping was carried out using Agena mass ARRAY, which is a costeffective, robust, and sensitive method to analyse multiple SNPs simultaneously. We analysed 7 genes in 492 samples (100 cases and 392 controls) associated with CRC within the population of Jammu and Kashmir. These SNPs were selected based on their association with multiple cancers in literature.Results This is the rst study to explore these SNPs with colorectal cancer within the J&K population.7SNPs with a call rate of 90% were selected for the study. Out of these, one SNP i.e. rs2229080 of DCC was found to be signi cantly associated with the current study and 6 were non-signi cantly associated with CRC within the studied population. The allelic OR observed for the variant rs2229080 of DCC was 1.5 (1.1-2.3 at 95% CI), p value = 0.02.Conclusion This is the rst study to nd the relation of Genetic variants with the colorectal cancer within the studied population using high throughput mass ARRAY technology. It is further anticipated that the variants should be evaluated in other population groups that may aid in understanding the genetic complexity and bridge the missing heritability.

Background: Non-small cell lung cancer (NSCLC) is the most prevalent type of lung cancer accounting for 80–85% of all lung cancer cases. Various genetic studies have tried to reveal the association of REV3L (Protein reversion less 3-like) gene mutations with cancer, including lung cancer but no such study has been carried out in the population of Jammu and Kashmir (J&K).Methods: Four selected REV3L single nucleotide variants were genotyped using the TaqMan allele discrimination assay in 550 subjects (203 NSCLC patients and 347 healthy controls). The association of variants was evaluated by logistic regression.Results: Out of the four REV3L variants genotyped, we found rs1002481, rs462779, and rs465646 significantly associated with NSCLC risk with an Odds Ratio (OR) of 3.5 (1.98–6.3 at 95% CI ), p-value = 0.00002; OR = 4.4 (1.8–10.4 at 95% CI ), p-value = 0.00075; and OR = 2.4 (1.47–4.008 at 95% CI ), p-value = 0.00053, respectively. The analysis of rs465646/rs462779/rs1002481 haplotypic combinations revealed a significant association of AGT, AGA, GGT, and AAA haplotypes with NSCLC. Conclusion: The analysed data suggest a strong association of variants rs1002481, rs462779, rs465646 with NSCLC. This association is indicative of a potential role of mutations in the REV3L gene as risk factor for the development of NSCLC in the studied population. Although a first report from any Indian population, these variants have been previously reported to be associated with lung and colorectal cancers in different world populations. These data along with the analysed data supports the notation that these variants can be used as potential prognostic biomarker.

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