Background: The FTO gene has recently become one of the most extensively investigated genes associated with body mass and has been shown to play a role in cardiovascular diseases as well. The aim of the current study was to investigate the effect of a common variant of FTO gene, rs9939609 in obese and coronary heart disease (CHD) patients of Pakistan and investigate whether it has any influence on the serum biochemical parameters.
Methods: A total of 970 samples (295 obese, 425 CHD and 250 controls) were genotyped using TaqMan allelic discrimination assay. Serum total cholesterol, HDL-C and triglycerides were measured using spectrophotometric methods. LDL-C was calculated by Friedwalds equation. Statistical analysis was done by SPSS version 22.
Results: Results showed moderately high minor allele frequency (MAF) in obese and CHD cases as compared to controls (obese = 0.381 CAD = 0.361 and controls = 0.286). The variant was significantly associated with obesity and CAD (obesity odds ratio (OR) = 1.54, confidence interval (CI) = 1.07-2.21, p = 0.0009; CHD OR = 1.43, CI = 1.02-2.01, p = 0.004) in Pakistan. The risk allele did not show a significant association with any of the lipid trait tested (p > 0.05) but a strong association was observed with plasma glucose levels (obese p = 0.001, CAD p = 0.014, controls p = 0.019).
Conclusion: In conclusion, the variant was associated with obesity and CAD in the studied subjects and its possible effect may involve the blood sugar metabolism but not serum lipid chemistry.