Implications of discoveries from genome-wide association studies in current cardiovascular practice

Genome-wide association studies(GWAS)have identified several genetic variants associated with coronary heart disease(CHD),and variations in plasma lipoproteins and blood pressure(BP).Loci corresponding to CDKN2A/CDKN2B/ANRIL,MTHFD1L,CELSR2,PSRC1 and SORT1 genes have been associated with CHD,and TMEM57,DOCK7,CELSR2,APOB,ABCG5,HMGCR,TRIB1,FADS2/S3,LDLR,NCAN and TOMM40-APOE with total cholesterol.Similarly,CELSR2-PSRC1-SORT1,PCSK9,APOB,HMGCR,NCAN-CILP2-PBX4,LDLR,TOMM40-APOE,and APOC1-APOE are associated with variations in low-density lipoprotein cholesterol levels.Altogether,forty,forty three and twenty loci have been associated with high-density lipoprotein cholesterol,triglycerides and BP phenotypes,respectively.Some of these identified loci are common for all the traits,some do not map to functional genes,and some are located in genes that encode for proteins not previously known to be involved in the biological pathway of the trait.GWAS have been successful at identifying new and unexpected genetic loci common to diseases and traits,thus rapidly providing key novel insights into disease biology.Since genotype information is fixed,with minimum biological variability,it is useful in early life risk prediction.However,these variants explain only a small proportion of the observed variance of these traits.Therefore,the utility of genetic determinants in assessing risk at later stages of life has limited immediate clinical impact.The future application of genetic screening will be in identifying risk groups early in life to direct targeted preventive measures.

Serum Omega-6/Omega-3 Ratio and Risk Markers for Cardiovascular Disease in an Industrial Population of Delhi

High omega-6/omega-3 ratio intake promotes development of many chronic diseases. Secondary prevention studies though have demonstrated a decline in progression of many such diseases after reducing the intake, specific biochemical indices of cardiovascular disease risk markers have not been evaluated. We have evaluated the circulating levels of omega-6/omega-3 ratio and its effect on cardiovascular risk markers in India. Present study was conducted in industrial setting where employees were randomly selected. Data on their demographic characteristics were collected using pre-tested questionnaire. Fasting blood samples were collected from all the participants. Serum was separated and stored at-80℃ till the time of analysis. Lipids were estimated using standard kits. Fatty acids in serum were estimated by Gas chromatography. The identified Omega-3 fatty acid included were 18:3 (Alpha-linolenic acid), 20:5 (Eicosapentenoic acid) & 22:6 (Docosahexenoic acid). Among omega-6 included were 18:2 (linoleic acid), 18:3 (gamma-linolenic acid) & 20:4 (Arachidonic acid). Complete data was available for 176 participants (89% males and 11% females) with mean age of 47.23 ± 6.00 years. The bmi of the participants was 24.88 ±3.43 Kg/m2 and waist circumference was 91.50 ±9.56 cm. The median of omega-6/omega-3 ratio in the study population was 36.69 (range: 6.21 -?183.69). The levels of total cholesterol, triglycerides, ldl-cholesterol and cholesterol/hdl ratio and apo B correlated significantly with omega-6/3 ratio. There was no correlation observed with hsCRP and LDL-particle size. A direct relationship of omega-6/ omega-3 ratio with dyslipidemia was observed in our study.