Original Research Article
Year: 2022 | Month: August | Volume: 12 | Issue: 8 | Pages: 255-262
DOI: https://doi.org/10.52403/ijhsr.20220834
Identify the Significant Hypostatic or Epistatic Effect Between the Various SNPs of LDLR gene through SNP-SNP Interaction and Haplotype Analysis - A Case Control Study
Kulwinder Kaur1, Chandan Kumar Jha2
1M.Sc. (Human Genetics), Department of Human Genetics, Punjabi University, Punjab, India
2Ph.D. (Human Genetics), Department of Molecular Diagnostic, Dr Lal PathLabs, Bangalore, India
Corresponding Author: Chandan Kumar Jha
ABSTRACT
The coronary artery disease (CAD) is a leading cause of the morbidity and mortality worldwide and has also become a major public health burden in India in recent decades. The LDLR gene mutations have been reported associated with familial CVD and are one of the main risk factors for developing coronary artery disease (CAD).
In the present study using the contingency chi-square test, statistically significant differences were observed between the CAD cases and matched healthy controls in the distribution of the genotypes of four out six SNPs investigated viz., rs688C>T (p=0.0031), rs1529729C>T (p=0.0001), rs5925G>A (p=0.006) and rs72658855C>T (p=0.0349). This suggested that these four SNPs are associated with CAD in the present material studied from Bangalore.
SNP-SNP interaction analysis revealed statistically significant hypostatic effect of rs688-rs2228671 combination, while rs688-rs72658855 combination showed statistically significant epistatic effect and the haplotype analysis demonstrated decreased (protective) risk of statistically significant association of TATCC, CGTCC and TACCT with CAD.
Further studies from different regions of the country are required to validate the present findings relating the association of genomic variants of LDLR gene with the susceptibility to CAD in people of India.
Key words: CAD-coronary artery disease; LDLR-low-density lipoprotein receptor; SNP-SNP interaction; Haplotype analysis; OR-odds ratio; CI-confidence interval .