Original Research Article
Year: 2019 | Month: January | Volume: 9 | Issue: 1 | Pages: 165-170
Association between PARK2 Intronic SNP rs10945859 and Colorectal Cancer in North Indian Population
Raj Ranjan Tiwari1,2, Zafar Iqbal Bhat1, Afreen Naseem1, S S Hasan2, M. Moshahid Alam Rizvi1
1Genome Biology Laboratory, Department of Biosciences, Jamia Millia Islamia, New Delhi, India
2School of Sciences, Maidan Garhi, INGOU, New Delhi, 110068
Corresponding Author: M. Moshahid Alam Rizvi
Background: PARK2 intron (PACRG regulatory region) polymorphism rs10945859 has been associated with diseases such as Leprosy, Parkinson’s etc. However association of this polymorphism with cancer remains unexplored. Therefore in this study we evaluated the association (if any) of this polymorphism and colorectal cancer (CRC) in North Indian subjects.
Methods: A total of two hundred subjects (100 colorectal cancer and 100 healthy individuals) of North Indian origin were scored for this polymorphism using (amplification created restriction site) PCR-RFLP method. Freely available online tools SFmap and SpliceAid were used to predict splicing factor binding sites.
Results: Statistically non-significant protection was observed for TC (OR: 0.794, 95% CI: 0.281-2.246, P= 0.664) and CC genotypes (OR: 0.891, 95% CI: 0.323-2.458, P= 0.823), while overall no difference of allele or genotype frequencies was found between healthy and CRC subjects for rs10945859. Out of all characteristics studied alcohol drinking (P=0.021) and smoking (P=0.035) characters showed statistically significant difference among CRC subjects. Gain of NOVA1 and hnRNP K and loss of SRp20 splicing factor binding sites were observed using in-silico tools.
Conclusion: Our results demonstrate that there was statistically non-significant protection due rs10945859 polymorphism and no overall difference between genotype and allele frequencies. However since the sample size used in this study was small, future studies with larger sample size are required.
Key words: PARK2, PACRG, rs10945859, RFLP, Colorectal cancer