Beber Ana Rubia C, Polina Evelise R, Biolo Andréia, Santos Bruna L, Gomes Daiane C, La Porta Vanessa L, Olsen Virgílio, Clausell Nadine, Rohde Luis E, Santos Kátia G
Laboratory of Human Molecular Genetics, Universidade Luterana do Brasil, Canoas, RS, Brazil.
Experimental and Molecular Cardiovascular Laboratory and the Heart Failure and Cardiac Transplant Unit, Cardiology Division, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
PLoS One. 2016 Aug 23;11(8):e0161666. doi: 10.1371/journal.pone.0161666. eCollection 2016.
Circulating levels of matrix metalloproteinase-2 (MMP-2) predict mortality and hospital admission in heart failure (HF) patients. However, the role of MMP-2 gene polymorphisms in the susceptibility and prognosis of HF remains elusive. In this study, 308 HF outpatients (216 Caucasian- and 92 African-Brazilians) and 333 healthy subjects (256 Caucasian- and 77 African-Brazilians) were genotyped for the -1575G>A (rs243866), -1059G>A (rs17859821), and -790G>T (rs243864) polymorphisms in the MMP-2 gene. Polymorphisms were analyzed individually and in combination (haplotype), and positive associations were adjusted for clinical covariates. Although allele frequencies were similar in HF patients and controls in both ethnic groups, homozygotes for the minor alleles were not found among African-Brazilian patients. After a median follow-up of 5.3 years, 124 patients (40.3%) died (54.8% of them for HF). In Caucasian-Brazilians, the TT genotype of the -790G>T polymorphism was associated with a decreased risk of HF-related death as compared with GT genotype (hazard ratio [HR] = 0.512, 95% confidence interval [CI] 0.285-0.920). However, this association was lost after adjusting for clinical covariates (HR = 0.703, 95% CI 0.365-1.353). Haplotype analysis revealed similar findings, as patients homozygous for the -1575G/-1059G/-790T haplotype had a lower rate of HF-related death than those with any other haplotype combination (12.9% versus 28.5%, respectively; P = 0.010). Again, this association did not remain after adjusting for clinical covariates (HR = 0.521, 95% CI 0.248-1.093). Our study does not exclude the possibility that polymorphisms in MMP-2 gene, particularly the -790G>T polymorphism, might be related to HF prognosis. However, due to the limitations of the study, our findings need to be confirmed in further larger studies.
基质金属蛋白酶-2(MMP-2)的循环水平可预测心力衰竭(HF)患者的死亡率和住院率。然而,MMP-2基因多态性在HF易感性和预后中的作用仍不清楚。在本研究中,对308例HF门诊患者(216例白种巴西人和92例非洲裔巴西人)和333例健康受试者(256例白种巴西人和77例非洲裔巴西人)进行了MMP-2基因-1575G>A(rs243866)、-1059G>A(rs17859821)和-790G>T(rs243864)多态性的基因分型。对多态性进行了单独和联合(单倍型)分析,并对临床协变量进行了阳性关联校正。虽然两个种族的HF患者和对照组的等位基因频率相似,但在非洲裔巴西患者中未发现次要等位基因的纯合子。中位随访5.3年后,124例患者(40.3%)死亡(其中54.8%死于HF)。在白种巴西人中,与GT基因型相比,-790G>T多态性的TT基因型与HF相关死亡风险降低有关(风险比[HR]=0.512,95%置信区间[CI]0.285-0.920)。然而,在调整临床协变量后,这种关联消失了(HR=0.703,95%CI 0.365-1.353)。单倍型分析也得出了类似的结果,因为-1575G/-1059G/-790T单倍型纯合子患者的HF相关死亡率低于其他任何单倍型组合的患者(分别为12.9%和28.5%;P=0.010)。同样,在调整临床协变量后,这种关联也不复存在(HR=0.521,95%CI 0.248-1.093)。我们的研究并不排除MMP-2基因多态性,特别是-790G>T多态性可能与HF预后相关的可能性。然而,由于本研究的局限性,我们的发现需要在进一步的更大规模研究中得到证实。