ACE gene insertion/deletion polymorphism has a mild influence on the acute development of left ventricular dysfunction in patients with ST elevation myocardial infarction treated with primary PCI

<p>Abstract</p> <p>Background</p> <p>We evaluated the associations among angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism, ACE activity and post-myocardial infarction (MI) left ventricular dysfunction and acute heart failure (AHF) early after presentation with MI with ST-segment elevation (STEMI).</p> <p>Methods</p> <p>A total of 556 patients with STEMI treated by primary PCI (421 patients without AHF and 135 patients with AHF) were the study population. The activity of BNP, NT-ProBNP and ACE were measured at hospital admission and 24 h after MI onset. Left ventricular angiography was done before PCI; echocardiography was undertaken between the third and fifth day after MI.</p> <p>Results</p> <p>In comparison with the II genotypes group, the DD/ID group had a higher level of ACE activity upon hospital admission (p < 0.001). We found a significantly higher level of ACE activity in patients with moderate LV dysfunction (EF 40-54%) in comparison both with patients with preserved LV function (EF ≥55%) and with patients with severe LV dysfunction (p = 0.028). A non-significant trend towards a higher incidence of mild AHF (22.1% vs. 16.02%, p = 0,093), a significantly higher value of end-systolic volume (ESV/BSA) (30.0 ± 12.3 vs. 28.5 ± 13.0; p < 0.05) and lower EF (50.2 ± 11.1 vs. 52.7 ± 11.7; p < 0.05) in the DD/ID genotypes group was noted. Even after multiple adjustments according to multivariate models, the EF for the DD/ID group remained significantly lower (p = 0,033). The DD/ID genotypes were associated with a significantly higher risk of EF <45% (OR 2.04 [95% CI 1.28; 3.25]).</p> <p>Conclusions</p> <p>These results suggest that the I/D polymorphism of ACE is associated with the development of LV dysfunction in the acute phase after STEMI. We demonstrated for the first time an association of the low ACE activity with the severe LV dysfunction, although patients with moderate LV dysfunction had higher level ACE activity than patients with preserved LV function.</p

Allelic variants in vitamin D receptor gene are associated with adiposity measures in the central-European population

Background: There is an increasing body of evidence suggesting that vitamin D is involved in ethiopathogenesis of obesity and therefore the aim of the study was to investigate whether 5 selected SNPs in VDR (vitamin D receptor) gene are associated also with anthropometry in the obese and non-obese Central-European population. Methods: A total of 882 Central European Caucasian individuals of Czech origin were recruited (n = 882, 232 M/650 F) and weight, height, BMI, lean body mass, fat mass, body fat, waist and hip circumference, waist–hip ratio (WHR) and skinfold thickness were measured. Univariate and multivariate models were constructed in order to investigate the relationship between anthropometry and VDR polymorphisms. Results: In the univariate modeling, the CC genotype of FokI SNP was associated with reduced waist circumference (β = −3.48; 95%CI:-7.11;0.15; p = 0.060), sum of skin fold thickness (β = −6.53, 95% CI: -12.96;-0.11; p = 0.046) as well as total % of body fat (β = −3.14, 95% CI: -5.18;-1.09; p = 0.003) compared to TT genotype. The AC genotype of ApaI SNP was associated with reduced waist circumference compared to AA genotype (β = −4.37, 95% CI: -7.54;-1.20; p = 0.007). GG genotype of EcoRV SNP was associated with reduced sum of skin fold thickness compared to AA genotype (β = −7.77, 95% CI: -14.34;-1.21; p = 0.020). In the multivariate modelling, multiple significant associations of VDR with investigated traits were observed, too. Conclusion: Our study suggests that genetic variability in the VDR region may be an important factor influencing anthropometric characteristics associated with obesity