Related Experiment Video
Updated: Jun 28, 2025
A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Genetic variants of ANRIL and coronary artery disease: Insights from a Turkish study population
Aybike Sena Ozuynuk-Ertugrul1, Cemre Buse Kirsan1, Aycan Fahri Erkan2
1Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, Turkey; Istanbul University Institute of Graduate Studies in Health Sciences, Istanbul, Turkey.
Insights
Genetic variations in ANRIL, a long non-coding RNA, are linked to coronary artery disease (CAD) and its risk factors like hypertension and type 2 diabetes mellitus (T2DM) in Turkish individuals. This study highlights ANRIL polymorphisms as potential biomarkers for CAD susceptibility and severity.
Area of Science:
- Genetics
- Molecular Biology
- Cardiovascular Disease Research
Background:
- Coronary artery disease (CAD) is a major global health concern, with long non-coding RNAs (lncRNAs) like ANRIL implicated in its development.
- Understanding the genetic basis of CAD, particularly the role of specific lncRNA polymorphisms, is crucial for risk assessment and targeted therapies.
Purpose of the Study:
- To investigate the association between specific ANRIL gene polymorphisms (rs1333049, rs564398, rs10757274) and the presence and severity of coronary artery disease (CAD).
- To explore the relationship between these ANRIL polymorphisms and common CAD risk factors, including hypertension and type 2 diabetes mellitus (T2DM), in a Turkish population.
Main Methods:
- Genotyping of ANRIL polymorphisms rs1333049, rs564398, and rs10757274 was performed using quantitative reverse transcription polymerase chain reaction (qRT-PCR).
- The study involved 1285 participants: 736 with diagnosed CAD and 549 healthy controls from a Turkish cohort.
Main Results:
- Specific ANRIL polymorphisms (rs1333049 G allele, rs10757274 G allele) were associated with increased CAD severity markers (Gensini score, SYNTAX score) and lipid levels in certain subgroups.
- The rs564398 CC genotype showed increased susceptibility to CAD and severe CAD in females, while its G and T alleles were more prevalent in hypertensive males.
- Carriage of the rs564398 C allele and rs1333049 C allele was associated with a reduced risk of T2DM and, for rs1333049, also with a reduced risk of CAD combined with T2DM.
Conclusions:
- Selected ANRIL polymorphisms are significantly associated with CAD presence, severity, and associated risk factors such as T2DM and hypertension in the Turkish population.
- These findings, from the largest study of its kind in Turkish individuals, support the role of ANRIL variants in cardiovascular disease pathogenesis across different ethnicities.
Background And Aim:
Coronary artery disease (CAD) remains a leading cause of morbidity and mortality globally despite advancements in treatment. Long non-coding RNAs (lncRNAs) play crucial roles in the atherosclerotic process, with ANRIL being one such lncRNA. This study explored the association between ANRIL polymorphisms (rs1333049:C > G, rs564398:T > C, and rs10757274:A > G) and CAD along with CAD risk factors in a Turkish patient group.
Methods:
The study included 1285 participants, consisting of 736 patients diagnosed with CAD (mean age = 63.3 ± 10.5 years) and 549 non-CAD controls (mean age = 57.52 ± 11.01 years). Genotypes for rs1333049, rs564398, and rs10757274 were determined using qRT-PCR.
Results:
G allele carriage of both rs1333049 and rs10757274 polymorphisms were associated with higher Gensini score, SYNTAX score, total cholesterol, and triglyceride levels in female CAD patients and non-CAD males. Females with rs564398 CC genotype were more susceptible to CAD (p = 0.02) and severe CAD (p = 0.05). Moreover, the G and T alleles of rs10757274 and rs564398 were more prevalent among hypertensive males. Also, carrying the C allele for rs564398 was associated with a decreased risk for type 2 diabetes mellitus (T2DM) (p = 0.02). Besides, carriers of the rs1333049 C allele for decreased risk for T2DM (p = 0.03) and CAD complexed with T2DM (p = 0.04) in logistic regression analyses.
Conclusions:
In conclusion, selected ANRIL polymorphisms were associated with CAD presence/severity and CAD risk factors, T2DM, and hypertension. Notably, this study, the largest sample-sized study examining the effects of selected polymorphisms on CAD and its risk factors among Turkish individuals, supported the findings of previous studies conducted on different ethnicities.
More Related Videos
03:45Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
