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. 2023 Jul 3;15(4):510-517.
doi: 10.1055/s-0043-1768630. eCollection 2023 Dec.

Effect of ABCA1-R219K Polymorphism in Serum Lipid Parameters in Patients under Statin Therapy Visiting Tertiary Cardiac Center of Nepal

Sapana Ghimire  1 , Binod Kumar Yadav  2 , Sweta Shrestha  3 , Jivan Shakya  4 , Chandra Mani Poudel  5 , Eans Tara Tuladhar  2 , Vijay Kumar Sharma  2 , Mithilesh Raut  2 , Aseem Bhattarai  2 , Krishna Das Manandhar  6 , Vivek Pant  7 , Deependra Shrestha  8
Affiliations

Effect of ABCA1-R219K Polymorphism in Serum Lipid Parameters in Patients under Statin Therapy Visiting Tertiary Cardiac Center of Nepal

Sapana Ghimire et al. J Lab Physicians. .

Abstract

Introduction ATP-binding cassette transporter A1 (ABCA1) encoded by ABCA1 gene is one of the important protein involved in lipid metabolism. The effect of statin therapy on dyslipidemia varies among individuals and it may be due to different genetic polymorphism. The R219K polymorphism of ABCA1 gene is found to have a significant role in the response of statin. Objective This study was designed to evaluate the effect of R219K polymorphism in lipid-lowering action of statin in patients with dyslipidemia. Material and Methods This study was conducted in 88 patients. Blood samples were taken from patients before and at the end of 3 months of statin use and were analyzed for lipid profile. Whole blood was analyzed for R219K Polymorphism using polymerase chain reaction-restriction fragment length polymorphism. Results R219K polymorphism was associated with significant percentage reduction of serum triglyceride/high-density lipoprotein (TG/HDL) ratio and total cholesterol/high-density lipoprotein (TC/HDL) ratio in atorvastatin users. However, there was no significant association of polymorphism with change in serum TC, HDL-C, LDL-C, TG, and very low-density lipoprotein (VLDL). Among KK genotype individuals, value of TG, VLDL, TG/HDL, and TC/HDL were significantly lower than in RR genotypes. Also, TG/HDL and TC/HDL were significantly lower in RK genotype than in RR. Treatment of dyslipidemia with statin was found to be comparatively better in patients having the genotypes KK and RK. Conclusion Our study demonstrated association of R219K polymorphism with the significant reduction of TG/HDL and TC/HDL and particularly the KK genotype was associated with significant improvement of lipid parameters following atorvastatin treatment.

Keywords: PCR-RFLP; R219K polymorphism; atorvastatin; dyslipidemia; lipid profile; single-nucleotide polymorphisms; statin therapy.

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Conflict of interest statement

Conflicts of Interest None declared.

Figures

Fig. 1
Fig. 1
Restriction fragment length polymorphism fragments of different samples. Lane 1 shows the DNA ladder; Lane 2, 4, 5, and 7 are undigested polymerase chain reaction product representing wild-type homozygote RR genotype; lane 8 represents homozygote KK and lane 3 and 6 represent heterozygotes RK.
See this image and copyright information in PMC

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