Genetic association of left ventricular mass assessed by M-mode and two-dimensional echocardiography.
Genetic association of left ventricular mass assessed by M-mode and two-dimensional echocardiography.
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DOI：
10.1097/hjh.0000000000000765
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发表时间：
2016-01
影响因子：
4.9
通讯作者：
de las Fuentes L
中科院分区：
文献类型：
--
作者：
Barve RA;Gu CC;Yang W;Chu J;Dávila-Román VG;de las Fuentes L
左心室（LV）质量为评估心血管疾病（CVD）风险提供了预后信息。M模式和二维（2D）超声心动图导出的LV质量值显示出较高的准确性和可重复性;然而，迄今为止还没有研究比较基于两种方法的LV质量遗传相关性结果。本研究的目的是比较单核苷酸多态性（SNP）的关联性，从全基因组关联研究（GWAS）分析左室质量使用两种方法在同一队列。在711名受试者（390名女性）中使用二维和M型超声心动图确定LV质量;使用全基因组人类SNP阵列6.0获得SNP基因型数据。进行GWAS分析以获得与LV质量和LV质量指数相关的SNP组。未索引的LV质量显示出极好的一致性（M模式：170 ± 47 g vs. 2D：178 ± 56 g，组内相关系数0.929 [95%置信区间：0.932，0.909]）。基于M模式和2D导出的LV质量指数值的LVH存在显示出中度一致性（kappa = 0.49）。11个SNP在4个LV质量性状中的至少2个中显示出暗示性关联，其中CDH13中的一个SNP与所有4个衍生性状共同。同一队列中的M模式和2D超声心动图LV质量测量确定了提示性遗传相关性（共享和非共享），表明LV质量的两种测量基础是共同的LV质量生物学。M型和二维超声的联合使用是一种新的方法，可能会增加与LV质量的遗传关联的产量。
Left ventricular (LV) mass offers prognostic information for assessing cardiovascular disease (CVD) risk. M-mode and two-dimensional (2D) echocardiographically-derived LV mass values have shown high accuracy and reproducibility; however, no studies to date have compared LV mass genetic association findings based on both methods. The aim of this study was to compare associations of single nucleotide polymorphisms (SNPs) from genome-wide association study (GWAS) analyses of LV mass using both methods in the same cohort. LV mass was determined using 2D and M-mode echocardiography in 711 subjects (390 women); SNP genotype data was obtained using the Genome-wide Human SNP Array 6.0. GWAS analyses were performed to obtain panels of SNPs associated with LV mass and LV mass index. The un-indexed LV mass showed excellent agreement (M-mode: 170±47g vs. 2D: 178±56g, Intraclass Correlation Coefficient 0.929 [95% confidence interval: 0.932, 0.909]). The presence of LVH based on M-mode and 2D-derived LV mass index values showed moderate agreement (kappa=0.49). Eleven SNPs showed suggestive association in at least two of four LV mass traits, with one SNP in CDH13 common to all four derived traits. M-mode and 2D echocardiography LV mass measurements in the same cohort identified suggestive genetic associations, both shared and unshared, suggesting common LV mass biology underlying the two measures of LV mass. The combined use of M-mode and 2D echo is a novel approach that may increase the yield of genetic association with LV mass.