Abstract
Several factors contribute to the development of coronary artery disease (CAD). Adenosine diphosphate (ADP) activated P2Y12 receptor also plays a key role in platelet activation and aggregation. It has been found that common variation in the P2Y12 gene was associated with increased platelet aggregation resulting in adverse cardiovascular outcomes. Thus, polymorphisms in the ADP receptor P2Y12 may contribute to the development of CAD. This study aims to determine the frequency distribution of platelet receptor polymorphism P2Y12 (i744T>C) in Tamilian population and to predict its possible role in CAD. Three hundred seventy-one subjects were recruited comprising of 221 healthy volunteers and 150 patients with CAD belonging to either sex, aged 18–60 years of Tamilian origin. Genomic DNA was extracted using phenol-chloroform method. Genotyping was done by PCR-RFLP (Polymerase chain reaction-restriction fragment length polymorphism). The C allele frequency of P2Y12 polymorphism in controls and cases was 8.4% and 17.7%, respectively. The TT, TC, and CC genotype frequencies in controls and cases were 83.7%, 15.8%, 0.5% and 66.7%, 31.3%, 2%, respectively. The genotype frequencies were in Hardy-Weinberg equilibrium. There was a significant association (p < 0.05) between the mutant genotypes of P2Y12 (i744T>C) polymorphism and risk of CAD. The odds ratio was found to be 2.6. The variant allele frequency of P2Y12-i744T>C was significantly different from other populations. There was a significant association between the mutant genotypes of P2Y12 (i744T>C) polymorphism and risk of developing CAD. Thus, the present study will emphasize on the relevance of pharmacogenetic testing of P2Y12 (i744T>C) receptor gene polymorphism in CAD patients.
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The authors declare that they have no conflict of interest.
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The study was funded by the Indian Council of Medical Research, New Delhi, for funding the Centre for Advanced Research in Pharmacogenomics (Grant Order No. 53/17/2003-BMS dt.12.03.2007) in the Department of Pharmacology as well as Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER).
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The study was performed in compliance with the ethical standard. Institute Ethics Committee approval was obtained prior to the start of this study, and all subjects were encouraged to clarify their questions before signing the consent forms. Written informed consent was obtained from all individual participants included in the study.
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Priyadharsini, R., Umamaheswaran, G., . Raja, T.A.R. et al. Frequency of single nucleotide platelet receptor gene polymorphism (P2Y12-i744T>C) in coronary artery disease patients among Tamilian population. J Community Genet 8, 127–132 (2017). https://doi.org/10.1007/s12687-017-0293-9
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DOI: https://doi.org/10.1007/s12687-017-0293-9