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Table 4 Characteristics of index cases with FH according to the genotype

From: Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation

Variables

Mutation (−) (n = 137)

Mutation (+)

(n = 112)

p-value

LDLR null

heterozygote (n = 25)

LDLR defective heterozygote (n = 52)

APOB/PCSK9

mutation (n = 37)

Age, year

51 ± 10

50 ± 12

47 ± 14

47 ± 14

0.099

Male, n (%)

89 (65%)

16 (64%)

30 (57.7%)

20 (54.1%)

0.584

Xanthoma, n (%)

5 (3.6%)

1 (4%)

11 (21.2%)

2 (5.4%)

0.001

CAD, n (%)

114 (83.8%)

21 (84%)

42 (80.8%)

32 (86.5%)

0.911

Family history of CAD, n (%)

62 (45.6%)

12 (48%)

23 (46%)

15 (40.5%)

0.935

Statin, n (%)

123 (89.8%)

17 (68%)

38 (73.1%)

32 (86.5%)

0.005

TC, mmol/L

6.51 ± 1.97

7.88 ± 1.55

7.14 ± 2.35

6.46 ± 2.06

0.007

HDL-C, mmol/L

1.15 ± 0.3

1.05 ± 0.29

1.05 ± 0.35

1.09 ± 0.33

0.138

LDL-C, mmol/L

4.63 ± 1.5

6.22 ± 1.48

5.47 ± 2.03

4.7 ± 1.5

< 0.001

Untreated LDL-C, mmol/L

7.5 ± 1.82

8.88 ± 1.82

7.94 ± 2.13

7.39 ± 1.56

0.004

Apo A, g/L

1.4 ± 0.34

1.2 ± 0.26

1.23 ± 0.27

1.35 ± 0.34

0.002

Apo B, g/L

1.37 ± 0.38

1.64 ± 0.37

1.55 ± 0.52

1.35 ± 0.41

0.003

TG, mmol/L

1.72 (1.26–2.28)

1.45 (1.18–1.88)

1.59 (1.07–1.88)

1.78 (1.51–2.14)

0.032

  1. Data are expressed as mean ± SD, median (25th–75th percentile) or n (%). Bold values indicate statistical significance
  2. FH familial hypercholesterolemia, LDLR low-density lipoprotein receptor, APOB apolipoprotein B, PCSK9 proprotein convertase subtilisin/Kexin type 9, CAD coronary artery disease, TC total cholesterol, HDL-C HDL cholesterol, LDL-C LDL cholesterol, apo A apolipoprotein A, apo B apolipoprotein B, TG triglyceride