Table 1.
Baseline Characteristics of study participants
| Variables | Wild type carriers (N=92) | ANGPTL3 deficiency due to LoF mutations (N=38) | |
|---|---|---|---|
|
| |||
| Partial (N=32) | Complete (N=6) | ||
|
| |||
| Demographic | |||
|
| |||
| European Ancestry, n (%) | 92 (100) | 32 (100) | 6 (100) |
|
| |||
| Median age (IQR), years | 54.5 (44.5-63.0) | 50.0 (40.0-61.7) | 64.0 (59.7-70.5) ^° |
| Male, n (%) | 47 (51.1) | 18 (56.3) | 4 (66.7) |
|
| |||
| Life-style habit and past medical history | |||
|
| |||
| Mean BMI (IQR), kg/m2 | 28.5 (25.9-30.2) | 27.7 (24.7-30.8) | 30.8 (28.4-32.3) |
| Current/past heavy alcohol use*, n (%) | 3 (3.7) | 4 (13.3) | 2 (33.3) ^° |
| T2DM, n (%) | 12 (13.3) | 1 (3.1) | 1 (16.7) |
| HTN, n (%) | 36 (40.0) | 10 (31.2) | 3 (50.0) |
| CHD, n (%) | 5 (5.6) | 0 | 0 |
| Cancer, n (%) | 6 (6.7) | 1 (3.1) | 0 |
|
| |||
| ANGPLT3, ng/ml (Mean ± SD) | |||
|
| |||
| 177.2±63.1 | 98.6 ±47.1 | 0 | |
|
| |||
| Plasma Lipids (Mean and IQR) | |||
|
| |||
| TC, mg/dl | 188.0 (159.5-210.2) | 172.0 (147.2-190.5) § | 78.5 (66.7-86.7) ^° |
| HDL-C, mg/dl | 58.5 (50.0-68.0) | 51.5 (45.0-60.7) § | 26.0 (17.2-32.0) ^° |
| TG, mg/dl | 88.0 (65.0-129.2) | 79.0 (54.2-98.7) § | 26.0 (26.7-48.7) ^° |
| LDL-C, mg/dl | 104.0 (85.0-126.2) | 101.3 (76.2-113.0) | 42.0 (34.5-50.5) ^° |
| ApoA1, mg/dl | 145.0 (121.0-178.0) | 139.0 (119.0-173.0) | 86.5 (63.5-129.0) ^° |
| ApoB, mg/dl | 92.5 (72.0-109.2) | 83.0 (70.0-102.7) | 38.0 (34.5-88.7) |
|
| |||
| Glucose Metabolism (Mean and IQR) | |||
|
| |||
| FPG, mg/dl | 94.0 (88.0-104.0) | 94.0 (86.0-101.0) | 91.0 (88.5-109.2) |
| Fasting Insulin, U/L | 9.9 (6.5-11.9) | 7.7 (5.9-9.9) | 6.6 (4.2-9.9) |
| HOMA IR | 2.1 (1.5-2.8) | 1.7 (1.3-2.8) | 1.5 (1.0-2.2) |
| HOMAβ | 106.5 (63.9-140.5) | 93.6 (70.4-138.4) | 90.4 (37.5-124.9) |
| Mean QUICKI ± SD | 0.3±0.03 | 0.3±0.03 | 0.4±0.02 |
| Mean ISIm* ± SD | 5.0±2.7 | 4.9±2.5 | 6.7±5.2 |
|
| |||
| Liver Function Test (Mean ± SD) | |||
|
| |||
| AST, U/L | 21.9±7.4 | 23.4±9.7 | 22.8±6.7 |
| ALT, U/L | 24.4±12.3 | 24.0±10.1 | 31.3±14.2 |
| GGT, U/L | 27.7±27.1 | 21.5±14.6 | 16.5±4.4 |
Alcohol use as defined in methods. Data on alcohol consumption were missing for 9 wildtype, 2 heterozygous, and 3 homozygous ANGPTL3 LoF carriers.
P<0.05 for comparison between wild-type and heterozygous ANGPTL3 LoF carriers;
P<0.05 for comparison between wild-type and homozygous ANGPTL3 LoF carriers;
P<0.05 for comparison between heterozygous and homozygous ANGPTL3 LoF carriers.
LoF, loss of function; BMI, body mass index; T2DM, type 2 diabetes; HTN, hypertension; CHD, coronary heart disease; TC, total cholesterol, HDL-C, high density lipoprotein cholesterol; TG, triglyceride; LDL-C, low density cholesterol; FPG, fasting plasma glucose; Quicki, Quantitative Insulin Sensitivity Check Index; HOMA IR, Homeostasis Model Assessment insulin resistance; HOMAβ Homeostasis Model Assessment β; ISI Matsuda, insulin sensitivity index; AST, aspartate aminotransferase; ALT, alanine aminotransferase; GGT, gamma-glutamyl transferase