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J. Cardiovasc. Dev. Dis. 2018, 5(2), 31; https://doi.org/10.3390/jcdd5020031

LDLR rs688 TT Genotype and T Allele Are Associated with Increased Susceptibility to Coronary Artery Disease—A Case-Control Study

1
Department of Human Genetics, Punjabi University, Punjab 147002, India
2
Department of Medical Lab Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk 71491, Saudi Arabia
3
Department of Zoology, Mata Gujri College, Fatehgarh Sahib 140407, India
4
Sri Jayadeva Institute of Cardiovascular science & Research and Karnataka Institute of Diabetology, Bangalore 560069, India
*
Author to whom correspondence should be addressed.
Received: 27 April 2018 / Revised: 21 May 2018 / Accepted: 23 May 2018 / Published: 29 May 2018
(This article belongs to the Special Issue Lipoprotein Metabolism and Atherosclerosis)
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Abstract

Purpose: The low-density lipoprotein receptor is responsible for the binding and uptake of plasma LDL particles and plays a critical role in maintaining cellular cholesterol homeostasis. LDLR gene SNP rs688 has been reported to be associated with increased plasma total and LDL cholesterol in several populations and can lead to elevated plasma LDL levels, resulting in an increased risk for atherosclerosis and coronary artery disease. This study aimed to explore genetic LDLR variant rs688 for its potential roles in coronary artery disease. Methodology: This study recruited 200 coronary artery disease patients and 200 healthy individuals. Genotyping of LDLR-rs688C > T gene variations was performed using the allele specific PCR method. Correlation of LDLR-rs688C > T gene variants with different clinicopathological features of coronary artery disease patients was performed. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were applied to evaluate the correlation of this microRNA polymorphism with coronary artery disease risk. Results: A significant difference was observed in genotype distribution among the coronary artery disease and matched healthy controls (p = 0.003). The frequencies of all three genotypes CC, CT, TT reported in the patient samples were 14%, 65% and 21% and in the healthy controls samples were 18%, 73% and 9%, respectively. The increased risk of developing CAD in Indian patients was found to be associated with LDLR rs688 TT genotype (OR = 3.0, 95% CI, 1.43 × 6.2; p = 0.003) RR 1.87 (1.20–2.91) p = 0.0037) and also the increased risk of developing CAD was reported to be associated with LDLR rs688 T allele (OR = 0.74, 95% CI, 1.57–0.97; p = 0.03) RR 0.85 (0.73–0.99) p = 0.03) compared to the C allele. Therefore, it was observed that more than a 3.0- and 0.74-fold increase risk of developing CAD was associated with TT genotype and T allele in Indian coronary artery disease patients. Conclusion: The findings indicated that LDLR rs688 TT genotype and T allele are associated with an increased susceptibility to coronary artery disease patients. LDLR-rs688C > T gene variation can be used as a predisposing genetic marker for coronary artery disease. Further studies with larger sample sizes are necessary to confirm our findings. View Full-Text
Keywords: CAD—coronary artery disease; LDLR—low-density lipoprotein receptor; LDLR rs688C/T; SNP—single-nucleotide polymorphism; allele specific PCR; OR—odds ratio; CI—confidence interval CAD—coronary artery disease; LDLR—low-density lipoprotein receptor; LDLR rs688C/T; SNP—single-nucleotide polymorphism; allele specific PCR; OR—odds ratio; CI—confidence interval
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Jha, C.K.; Mir, R.; Khullar, N.; Banu, S.; Chahal, S.M.S. LDLR rs688 TT Genotype and T Allele Are Associated with Increased Susceptibility to Coronary Artery Disease—A Case-Control Study. J. Cardiovasc. Dev. Dis. 2018, 5, 31.

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