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Heritability and genotypic correlation of CMR-derived LV phenotypes in the UK Biobank population imaging study

Session Poster session 2

Speaker Nay Aung

Event : EuroCMR 2019

  • Topic : imaging
  • Sub-topic : Imaging - Other
  • Session type : Poster Session

Authors : N Aung (London,GB), JD Vargas (Bethesda,US), AW Manichaikul (Charlottesville,US), CP Yang (Charlottesville,US), CP Cabrera (London,GB), HR Warren (London,GB), K Fung (London,GB), E Tzanis (London,GB), MR Barnes (London,GB), SK Piechnik (Oxford,GB), S Neubauer (Oxford,GB), DA Bluemke (Bethesda,US), PB Munroe (London,GB), SE Petersen (London,GB)

N Aung1 , JD Vargas2 , AW Manichaikul3 , CP Yang3 , CP Cabrera1 , HR Warren1 , K Fung1 , E Tzanis1 , MR Barnes1 , SK Piechnik4 , S Neubauer4 , DA Bluemke2 , PB Munroe1 , SE Petersen1 , 1Queen Mary University of London, William Harvey Research Institute - London - United Kingdom of Great Britain & Northern Ireland , 2National Institutes of Health, Radiology and Imaging Sciences - Bethesda - United States of America , 3University of Virginia, Center for Public Health and Genomics, Department of Public Health Sciences - Charlottesville - United States of America , 4University of Oxford, Division of Cardiovascular Medicine, Radcliffe Department of Medicine - Oxford - United Kingdom of Great Britain & Northern Ireland ,

Imaging - Other

European Heart Journal - Cardiovascular Imaging ( 2019 ) 20 ( Supplement 2 ), ii377


 Left ventricular (LV) image-derived phenotypes are important biomarkers influenced by genes and environment in health and disease. Even though they are known to be heritable based on family and twin studies, the robust estimates of the proportion of genetic contribution in population samples are uncertain at present.


 The aims of the study were to: (i) determine the proportion of LV phenotypic variance explained by genome-wide single nucleotide polymorphisms (SNPs), also known as SNP heritability (h²g), and (ii) estimate the genetic correlation (rg) between LV traits.


 A total of 16,923 European participants of the UK Biobank study (mean±SD age: 62.5±7.5 years; 45.8% men) with no prevalent myocardial infarction or heart failure were included in this study. Six LV parameters – LV end-diastolic volume (LVEDV), LV end-systolic volume (LVESV), LV stroke volume (LVSV), LV ejection fraction (LVEF), LV mass (LVM) and LV mass to end-diastolic volume ratio (LVMVR) – were measured from the short-axis bSSFP images acquired with a 1.5T Siemens scanner. SNP heritability (h²g) and genetic correlation (rg) were calculated by variance components method with BOLT-REML algorithm using 564,286 high-quality SNPs genotyped by bespoke Affymetrix arrays. The heritability and genetic correlation analyses were adjusted for age, sex, height, weight and systolic blood pressure. Pairwise phenotypic correlation (rp) was computed by Pearson method. 


 The highest heritability estimates (h²g SNP) were observed for LVEDV and LVESV (both 39%) whereas LVSV and LVEF had lower heritability (25% and 22%, respectively). The genotypic correlations between LV traits ranged from very high (rg = 0.92 between LVEDV and LVSV) to non-significant (rg = -0.01 between LVSV and LVEF) (Figure 1). Overall, the pairwise genotypic correlations appeared to be stronger than the corresponding phenotypic correlations except for the relationship between LVSV and LVEF, where genotypic correlation was absent despite a moderate phenotypic correlation (rp = 0.39).


 This is the largest study to-date reporting the heritability estimates of CMR-derived LV phenotypes. The heritability of structural LV traits such as LVEDV is considerably higher than more functional measurements such as LVSV which could be partly due to the external influences of loading conditions and autonomic tone, contributing to the inter-personal variability. LVSV and LVEF appear to have dissimilar genetic origins despite their phenotypic relationship.

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