ABC | Volume 110, Nº1, January 2018

Original Article Fischer et al Gene polymorphisms and coronary disease extension Arq Bras Cardiol. 2018; 110(1):16-23 Table 2 – Demographic and clinical characteristics of participants Variable n = 116 Male (%) 74 (68) Age (years) 56 ± 9 Hypertension (%) 104 (90) Smoking (%) 35 (30) Diabetes mellitus (%) 36 (31) AMI (%) 55 (47) Unstable angina (%) 61 (53) Stroke (%) 9 (8) PVD (%) 12 (10) BMI (Kg/m 2 ) 30.2 ± 4.7 Waist circumference (cm) 104.4 ± 10.8 Systolic arterial pressure (mmHg) 132 ± 24 Diastolic arterial pressure (mmHg) 86 ± 16 Heart rate (bpm) 68 ± 13 Gensini score (au) 21 (0-36) Gensini ≥ median (%) 42 (51) FMD (%) 13.7 ± 8.6 EIR (%) 14.9 (7.3-18.8) Categorical variables expressed as N (%); numerical variables expressed as mean ± standard deviation or median and interquartile ranges. PVD: peripheral vascular disease; FMD: flow-mediated dilation; AMI: acute myocardial infarction; BMI: body mass index, EIR: endothelium‑independent relaxation; AU: arbitrary units. Tables 1-14 (access the link: http://publicacoes.cardiol.br/ portal/2017/abc/english/v11001/pdf/i11001005_anexo. pdf) . For didactic purposes, data are presented by genotype, considering the R allele of PON-1 , the T allele of MTHFR , the T allele of ENOS , the D allele of ACE , the C allele of AT1R , the S1 allele of APOC3 and the N allele of LPL as risk alleles. Summary of findings For the PON-1 gene, hs-CRP (mg/dL) values were higher in the QQ genotype as compared with the QR/RR genotype [(12.8 (6.7-24.1) vs. 7.0 (4.8-16.5), p=0.029] (Supplementary Tables 1 and 2), (access the link: http://publicacoes.cardiol.br/portal/2017/ abc/english/v11001/pdf/i11001005_anexo.pdf) . For the MTHFR gene, HbA1-c (%) and adiponectin (ng/mL) levels were higher in the CT/TT genotype as compared with the CC genotype [6.0 (5.5-7.3) vs. 5.7 (5.2-6.6); p = 0.031 and 6.996 ± 5.032 vs. 4.990 ± 3.165; p = 0.015] (Supplementary Tables 3 and 4), access the link: http://publicacoes.cardiol.br/portal/2017/ abc/english/v11001/pdf/i11001005_anexo.pdf. In addition, fasting glucose (mg/dL), HbA1c (%) and adiponectin levels (ng/mL) were higher in GT/TT vs. GG genotypes [(127 ± 48 vs. 106 ± 12, p = 0,001; 6,6 ± 1,9 vs. 5,9 ± 0,6, p = 0,028; 5010 (2688-10139) vs. 2148 (1912‑3435), p=0,011] (Supplementary Tables 5 and 6), (access the link: http://publicacoes.cardiol.br/ portal/2017/abc/english/v11001/pdf/i11001005_anexo.pdf) . For the ACE gene, heart rate (bpm) was higher in the ID/DD genotype compared with the II genotype (71 ± 13 vs. 65 ± 11, p = 0.042 (Supplementary Tables 7 and 8), (access the link: http://publicacoes.cardiol.br/portal/2017/abc/english/v11001/ pdf/i11001005_anexo.pdf) . Polymorphisms in the AT1R gene Table 3 – Distribution of allele and genotypic frequencies for the polimorphisms of PON-1, MTHFR, ENOS, ECA, AT1R, APOC3 and LPL genes Gene Allele frequency Genotypic frequency (%) p - value (Hardy Weinberg) PON-1 Q R QQ QR RR 0.63 0.37 36 (31) 76 (65) 4 (4) 0.0004 MTHFR C T CC CT TT 0.61 0.39 35 (30) 72 (62) 9 (8) 0.0131 ENOS G T GG GT TT 0.43 0.57 10 (9) 80 (69) 26 (22) 0.0006 ACE I D II ID DD 0.33 0.67 17 (15) 42 (36) 57 (49) 0.1955 AT1R A C AA AC CC 0.75 0.25 70 (60) 35 (30) 11 (10) 0.2351 APOC3 S1 S2 S1S1 S1S2 S2S2 0.16 0.84 2 (2) 33 (28) 81 (70) 0.8310 LPL D N DD DN NN 0.34 0.66 17 (15) 45 (39) 54 (46) 0.3095 PON-1: paraoxonase-1; MTHFR: methylenotetrahydrofolate reductase; ENOS: endothelial nitric oxide synthase; ACE: angiotensin-converting enzyme; AT1R: angiotensin II type 1 receptor; APOC3: apolipoprotein C3; LPL: lipoprotein lipase. p < 0.05, chi-square test. Expected vs. observed genotypic frequencies were not in the Hardy‑Weinberg equilibrium in the studied population 19