Table 3 Clinical laboratory measurements for carriers of presumed deleterious variants in LMNA is consistent with subclinical features of partial lipodystrophy and renal disease

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

Lab parameter

LMNA+/- Median (IQR)

N

LMNA+/+ Median (IQR)

N

p

ALT, maximum (U/L)

58.50 (32.25, 143.50)

50

36.00 (23.00, 62.00)

8459

1.13E-04

AST, maximum (U/L)

53.50 (35.50, 109.50)

50

35.00 (25.00, 63.00)

8392

1.48E-04

Total cholesterol, maximum (mg/dL)

208.00 (180.00, 248.00)

43

196.00 (162.00, 231.00)

6037

0.0259

LDL, maximum (mg/dL)

116.00 (90.50, 143.50)

43

114.00 (88.00, 145.00)

5982

0.998

HDL, minimum (mg/dL)

41.00 (29.00, 50.75)

42

39.00 (31.00, 50.00)

5978

0.693

Triglycerides, maximum (mg/dL)

185.00 (100.50, 319.00)

43

149.00 (102.00, 224.00)

6189

0.0559

Creatine kinase, maximum

133.50 (85.00, 196.50)

6

113.00 (71.00, 183.00)

1512

0.541

eGFR, minimum (mL/min/1.73 m2)

38.26 (18.26, 54.64)

53

56.94 (32.52, 79.05)

8238

5.20E-05

Albumin (serum), minimum (g/dL)

3.00 (2.40, 3.70)

50

3.50 (2.90, 3.90)

8049

4.34E-03

Urine protein, maximum (mg/dL)

41.00 (20.00, 262.50)

8

22.00 (9.00, 85.00)

801

0.162

  1. Unadjusted comparison via Wilcoxon rank-sum test of representative clinical laboratory parameters 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 serum laboratory data available (represented as LMNA+/+). Data are represented as median, respective first and third quartiles, the number of individuals from each population with available measurement data, and corresponding p value for Wilcoxon rank-sum test.
  2. ALT alanine aminotransferase, AST aspartate aminotransferase, eGFR estimated glomerular filtration rate, HDL high-density lipoprotein, IQR interquartile range, LDL low-density lipoprotein.
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