Background
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.
Methods and Results
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.
Conclusions
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.