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Table 1 Cohort demographics

From: Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B

 

Reference range

Controls

(n = 9)

ApoBR3500Q

P-value

Heterozygotes

(n = 13)

Homozygotes (n = 3)

Age (years)

NA

16 (7–26)

14 (3–28)

9 (4–22)

0.707

Males [n (%)]

NA

5 (56)

8 (62)

2 (67)

1.000

Body mass index (kg/m2)

18.5—24.9

21.5 (15.8–25.6)

17.9 (14.7–24.5)

13.9 (13.8–15.6)

0.124

Systolic blood pressure (mmHg)

NA

110 (96–130)

100 (90–140)

90 (90–120)

0.416

Hemoglobin A1c (%)

 ≤ 5.6

5.4 (5.1–5.8)

5.2 (4.7–5.7)

5.3 (5.3–5.4)

0.220

Free fatty acids (mmol/L)

 < 0.60

0.4 (0.3–0.7)

0.5 (0.2–1.4)

0.7 (0.5–0.7)

0.383

Homocysteine (μmol/L)

 < 11

6 (5–12)

6 (4–10)

6 (5–6)

0.853

Alanine aminotransferase (U/L)

 < 34

16 (11–87)

18 (8–77)

16 (14–20)

0.831

Estimated GFR (mL/min/1.73 m2)

 > 89

127 (93–150)

130 (104–150)

91 (79–150)

0.831

Thyroid stimulating hormone (μIU/mL)

0.27–4.20

2.5 (1.6–3.2)

2.5 (0.7–5.6)

3.0 (1.3–3.2)

0.695

High-sensitivity CRP (mg/L)

 < 1.0

0.7 (0.3–2.4)

0.3 (0.3–1.9)

1.1 (0.3–11.9)

0.159

Fibrinogen (mg/dL)

126–437

352 (274–513)

333 (239–476)

387 (234–601)

0.647

Lipoprotein-associated phospholipase A2 (ng/mL)

 < 200

151 (130–250)

184 (144–239)

226 (161–231)

0.299

Myeloperoxidase (pmol/L)

 ≤ 320

318 (240–414)

291(207–672)

292 (205–381)

0.209

Total cholesterol (mg/dL)

NA

168 (126–255)

225 (149–297)

396 (333–399)

0.021

LDL-C (mg/dL)

NA

95 (59–154)

165 (101–219)

304 (288–341)

0.001

HDL-C (mg/dL)

NA

71 (45–95)

58 (40–100)

66 (54–87)

0.403

Triglycerides (mg/dL)

NA

32 (28–96)

38 (28–98)

53 (43–56)

0.566

  1. Biometric and clinical data for ApoBR3500Q heterozygotes and homozygotes and age-matched sibling controls in the study cohort. ApoBR3500Q homozygotes were not included in statistical analysis due to small sample size but are presented for completeness. Median (min–max) compared by the exact Wilcoxon rank-sum test unless noted. Fisher’s exact test used where n (%) reported
  2. GFR, Glomerular filtration rate; CRP, C-reactive protein; NA, Not applicable