Ergören, Mahmut Çerkez2023-06-152023-06-152019-01Temel, S. G. ve Ergören, M. C. (2019). ''The association between the chromosome 9p21 CDKN2B-AS1 gene variants and the lipid metabolism: A pre-diagnostic biomarker for coronary artery disease''. Anatolian Journal of Cardiology, 21(1), 31-38.2149-22632149-2271https://doi.org/10.14744/AnatolJCardiol.2018.90907https://anatoljcardiol.com/jvi.aspx?un=AJC-90907http://hdl.handle.net/11452/33050Objective: Recent genome-wide association studies have established that polymorphisms within CDKN2B-ASI of chr9p21.3 locus increased susceptibility to coronary artery disease (CAD) or myocardial infarction. Common variants of CDKN2B-AS1 (including rs4977574 A>G and rs1333040 C>T) are determined to be directly associated with CADs in many populations worldwide and suggested biomarkers for the early detection of CAD. There is a lack of investigation for the association between CDKN2B-AS1 rs4977574 A>G and rs1333040 C>T genetic modifiers and CAD in a Turkish Cypriot population. The aim of the present study was to investigate the potential effects of these variants on susceptibility to developing CAD in a Turkish Cypriot population and their contribution to lipid metabolism. Methods: Seventy-one patients with angiography-confirmed CAD were recruited to the CAD group, whereas 153 voluntary subjects without CAD symptoms were enrolled to the control group. Genotyping for the CDKN2B-AS1 gene polymorphisms was performed by polymerase chain reaction, followed by restriction fragment length polymorphism analysis. Results: There is no statistical significant association observed between rs4977574 and rs1333040 single-nucleotide polymorphisms and two studied groups [odds ratio (OR): 0.763, p=0.185, 95% confidence interval (CI): 0.511-1.139 and OR: 1.060, p=0.802, 95% CI: 0.672-1.671, respectively]. However, rs2977574 G and rs1333040 T alleles-the risk alleles-were found to be associated with higher level of serum total cholesterol and lower level of high-density lipoprotein-cholesterol in the CAD group (p=0.019, p=0.006 and p=0.022, p=0.031, respectively). To our knowledge, this is the first study that establishes the effect of rs1333040 on lipid metabolism. Conclusion: The presence of rs4977574 G and rs1333040 T alleles and interaction may exist as environmental factors associated with lipid metabolism and might be responsible for the development of CAD in a Turkish Cypriot population.eninfo:eu-repo/semantics/openAccessCardiovascular system & cardiologyChr9p21Rs4977574Rs1333040BiomarkersCoronary artery diseaseGenome-wide asscociationMyocardial-infarctionCardiovascular-diseaseLocusPolymorphismsPopulationRS4977574RiskSnpsAtherosclerosisAdultBiomarkersCoronary angiographyCoronary artery diseaseCyclin-dependent kinase inhibitor p15European continental ancestry groupFemaleGenetic predisposition to diseaseHumansLipid metabolismMalePolymorphism, single nucleotideTurkeyArticle0004623448000072-s2.0-85059242312313821130587704Cardiac & cardiovascular systemsCoronary Artery Disease; Sortilin; Genetic PredispositionBiological markerCyclin dependent kinase inhibitor 2BGenomic DNAGlucoseHigh density lipoprotein cholesterolTriacylglycerolBiological markerCdkn2b protein, humanCyclin dependent kinase inhibitor 2BAdultArticleCholesterol blood levelControlled studyCoronary artery diseaseDNA extractionFemaleGene frequencyGenetic associationGenetic susceptibilityGenetic variabilityGenotypeGlucose blood levelHaplotypeHumanLipid metabolismMajor clinical studyMaleRestriction fragment length polymorphismRisk factorSingle nucleotide polymorphismBloodCaucasianCoronary angiographyCoronary artery diseaseDiagnostic imagingGenetic predispositionGeneticsTurkey (bird)