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MedPulse - International Medical Journal, ISSN 2348-2516 E-ISSN: 2348-1897

Volume 1, Issue 6, June 2014 pp 324-327

Research Article

Incidence of lipoprotein lipase D9N mutation and its association with risk of CAD and dyslipidemia in Indians

Mallakmir S M¹, Kane G R¹, Nadkarni J², Vidhate D A³, Deshpande S¹, Mallakmir S S⁴,Parundekar A², Ibrahim R²

¹Department of Cardiology, ²Department of Biochemistry, ⁴Clinical Geneticist, Dr. D.Y. Patil Medical College, Hospital and Research center, Nerul, Navi Mumbai. Maharashtra, INDIA.

³Department of Biotechnology and Bioinformatics, Dr. D.Y. Patil University, CBD Belapur, Navi Mumbai. Maharashtra, INDIA.

Abstract
Introduction: LPL is one of the important enzyme for lipoprotein metabolism. Various mutations has been identified in different regions of LPL gene described so far, out of all D9N (Asp9Asn), Asn291ser and the Gly188Glu mutation seems to be most significant in CAD. This study was carried out to identify the incidence of Lipoprotein lipase D9N mutation and its association with risk of CAD and dyslipidemia in the western region of India. The study included total 160 case out of which 110 were CAD patients with 50 controls from 2010-13 referred to Department of Cardiology Dr. D.Y. Patil Hospital and Research Center, Nerul, Navi Mumbai. We have studied the three isoforms of LPL D9N mutations (DD, DN and NN) and correlated their association with dyslipidemia and CAD risk. Conclusion: Our study concluded that DD genotype is the most common genotype in both the groups: CAD and controls which shows a relatively lower risk of CAD. While DN and NN genotype has been found to be associated with a higher risk of CAD.