Table 2 Cardiac architecture for carriers of presumed deleterious variants in LMNA is consistent with dilated cardiomyopathy

From: A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes

Echo parameter

LMNA+/- median (IQR)

N

LMNA+/+ median (IQR)

N

Beta

p

Left atrial volume index, maximum

52.592 (37.491, 60.381)

20

36.982 (27.329, 49.802)

2648

11.582

0.00649

Left ventricular end systolic diameter PLAX, maximum (cm)

4.010 (3.563, 4.637)

31

3.490 (2.970, 4.290)

4643

0.512

0.0159

Left ventricular diastolic diameter PLAX, maximum (cm)

5.282 (4.792, 5.792)

32

4.980 (4.420, 5.591)

4696

0.188

0.235

Left ventricular ejection fraction (LVEF), minimum

45.00 (40.00, 55.00)

33

55.00 (40.00, 65.00)

5506

−7.501

0.0162

Left ventricular outflow tract (LVOT) velocity time integral, minimum (cm)

17.070 (14.200, 21.200)

28

19.100 (15.300, 23.175)

3846

−2.801

0.0114

Mitral E/A ratio, maximum

1.753 (1.413, 2.541)

26

1.312 (0.942, 1.901)

4529

0.517

0.0124

  1. Comparison of representative echocardiography parameters for cardiac size and functionality between heterozygous carriers of predicted loss-of-function variants and missense variants with REVEL scores of at least 0.65 (represented as LMNA+/-), and individuals in the Penn Medicine Biobank (PMBB) not carrying one of presumed deleterious variants with echocardiographic data available (represented as LMNA+/+). Data is represented as median, respective first and third quartiles, the number of individuals from each population with available measurement data, and corresponding beta and p value attributable to LMNA carrier status via robust linear regression adjusted for age, age2, gender, and the first ten principal components of genetic ancestry. 95% confidence intervals and p values were corrected by bootstrapping with 1000 samples.
  2. IQR interquartile range, PLAX parasternal long-axis view.
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