Association of ANRIL polymorphism (rs1333049: C>G) with myocardial infarction and its pharmacogenomic role in hypercholesterolemia

Waqas Ahmed, Imran Saeed Ali, Moeen Riaz, Asma Younas, Ahmed Sadeque, Asfandyar Khan Niazi, Saad Hameed Niazi, Syeda Hafiza Benish Ali, Maleeha Azam, Raheel Qamar

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Single nucleotide polymorphisms (SNPs) of non-coding RNA in the INK4 locus (ANRIL) have been found to be associated with myocardial infarction (MI). However, the effect of rs1333049:C>G in INK4 locus in familial hypercholesterolemia patients and on lipid profile of the patients has not been studied in Pakistan. We therefore investigated the association of SNP rs1333049:C>G with MI as well as familial hypercholesterolemia patients and also determined the effect of genotype on lipid levels in a northern Pakistani population. A case-control association study was performed in which 611 individuals (294 patients, 290 healthy controls and 27 patients from hypercholesterolemia families) were genotyped for rs1333049:C>G, using an Allele specific polymerase chain reaction. We found a significant association of rs1333049:C>G with MI (χ 2 =22.3, p<0.001). The frequency of risk genotype CC was significantly different from the healthy controls (p<0.001, χ 2 =22.3). The risk allele C was at a higher frequency in the MI patients as compared to the controls (odds ratio [OR]=1.55 (95% confidence interval [CI]=1.22-1.96), p<0.001). The logistic regression analysis for the genotype distribution resulted in strong association of risk allele C with MI under recessive model (OR=3.17 (95% CI=1.85-5.44) p<0.001). When the data were further analyzed along the lines of gender, a significant association with both males and females was observed.The pleiotropic role of rs1333049 was revealed further when CC genotype hypercholesterolemic individuals on statins were found to have a significantly lower TC, LDL-C and Tg levels as compared to the CG and GG individuals (p. <. 0.05). The current study demonstrates a strong association of the ANRIL SNP (rs1333049) with MI as well as familial hypercholesterolemia patients in a northern Pakistani population and could be used as a useful genetic marker for the screening of MI in the general Pakistani population.

Original languageEnglish
Pages (from-to)416-420
Number of pages5
Issue number2
Publication statusPublished - 25 Feb 2013
Externally publishedYes


  • ANRIL polymorphism
  • Coronary artery diseases
  • Genetics
  • Myocardial infarction

Cite this

Ahmed, W., Ali, I. S., Riaz, M., Younas, A., Sadeque, A., Niazi, A. K., Niazi, S. H., Ali, S. H. B., Azam, M., & Qamar, R. (2013). Association of ANRIL polymorphism (rs1333049: C>G) with myocardial infarction and its pharmacogenomic role in hypercholesterolemia. Gene, 515(2), 416-420.