Mutational Analysis of Peroxisome Proliferator Activated Receptor Alpha (PPARα) Genes and Their Relationship with Lipid Profile in Diabetic Dyslipidemia Patient

Abstract

Objective: To explore the genetic variants of exon 5 of peroxisome proliferator activated receptors alpha (PPARα) genes in diabetic patients with and without dyslipidemia and healthy controls to define its genetic contribution to development of diabetic dyslipidemia and its relationship with serum lipid profile. Material and Methods: This was a cross-sectional study conducted in MDL of Army medical college from Jan 2021 to Jan 2022. A total of 90 participants were categorized into 3 groups having 30 members each. Group I, diabetic patients having dyslipidemia, group II. diabetic patients without dyslipidemia and group III of healthy controls. DNA template obtained from blood was amplified by PCR. After purification and sequencing PCR, sequencing was performed and analysis done by BIOEDIT software. Demographic along with clinical data was also collected and analyzed by SPSS version 22. Results: No significant mutation was found in the concerned exon of PPARα gene during the study in all three groups. Mean HDL-c (high density lipoprotein) was found to be significantly lower than that of controls. Mean total cholesterol, triglyceride (TG) and serum LDL-c values of group 1 & 2 were found significantly elevated than that of controls. Conclusion: Absence of any variant of this exon in our study suggests the involvement of other exons of PPARα gene to be the causative factors for the development of disorders in metabolic pathways. The levels of total cholesterol, TG, LDL-c and HDL-C are perturbed significantly among diabetic dyslipidemic patients as compared to diabetic non-dyslipidemic patients and normal healthy controls.