ANRIL rs1333049 C/G polymorphism and coronary artery disease in a North Indian population - Gender and age specific associations

• Published in: Genetics and molecular biology Vol. 43; no. 1; p. e20190024
• Main Authors: Kaur, Naindeep, Singh, Jagtar, Reddy, Sreenivas
• Format: Journal Article
• Language: English
• Published: Brazil Sociedade Brasileira de Genetica 01.01.2020; Sociedade Brasileira de Genética
• Subjects: ARMS-PCR; Associations; BIOCHEMISTRY & MOLECULAR BIOLOGY; Cardiovascular disease; Cell cycle; Coronary artery; Coronary artery disease; Coronary vessels; Cyclin-dependent kinase inhibitors; Diabetes mellitus; Disease control; epidemiology study; Gender; Gene polymorphism; Genetic polymorphism; Genetics; GENETICS & HEREDITY; Genotype & phenotype; Genotypes; Heart diseases; Human and Medical Genetics; INK4 protein; Mutants; Non-coding RNA; North Indian Population; Nucleotides; Polymorphism; Risk analysis; Risk factors; Single-nucleotide polymorphism; epidemiology study; North Indian Population; Coronary artery disease; ARMS-PCR; Genetic polymorphism
• ISSN: 1415-4757; 1678-4685; 1678-4685
• DOI: 10.1590/1678-4685-GMB-2019-0024

Many studies conducted worldwide substantiate a role of genetic polymorphisms in non-coding regions linked with coronary artery disease (CAD). One such single nucleotide polymorphism (SNP) of a non-coding RNA in the INK4 locus (ANRIL) i.e. rs1333049 C/G in the vicinity of cell cycle regulating genes is documented to have a role in CAD risk. In this study we aimed to determine the association of ANRIL rs1333049 C/G with CAD in a North Indian population. Five hundred disease free controls and 500 CAD patients were genotyped using allele specific ARMS-PCR method. High risk association of rs1333049 was seen in both heterozygous and mutant genotypes (OR=2.883, 95% CI=1.475-5.638 and p=0.002 and OR=6.717, 95% CI=3.444-13.102 and p < 0.001 respectively). Gender stratified analysis revealed risk association in both heterozygous and mutant genotypes in males. However, risk association in the mutant genotype and females was documented. Similarly, risk association was seen in subjects above 40 years of age in heterozygous and mutant genotypes. Similarly, risk association was reported in obese, sedentary lifestyle, positive family history and smoking in the heterozygous and mutant genotype and with diabetes in the mutant GG genotype. The study revealed high risk association of ANRIL rs1333049 with CAD and other risk factors.