Table 3 Relationship between genotype and phenotype.

From: The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia

 

HoFH

Compound hetergyous FH

HeFH

HeFH with high TC

Mutation (−)

N

4

14

52

7

1

Age (Year)

17.7 ± 12.6

13.5 ± 6.8

38.9 ± 14.7*

38.6 ± 6.9

6

Male (%)

75%

50%

44.2%

28.6%

0%

TC

17.2 ± 2.9

16.2 ± 2.8

7.7 ± 1.6*

10.9 ± 0.9&

13.6

LDL-C

15.0 ± 3.6

13.0 ± 1.7

5.5 ± 1.7*

8.6 ± 1.5&

11.6

TG

1.8 ± 0.3

1.4 ± 0.7

1.3 ± 0.7

1.6 ± 0.2

1.6

HDL-C

1.6 ± 1.0

1.9 ± 0.9

1.4 ± 0.5

1.7 ± 0.5

1.2

Non-HDL-C

15.6 ± 3.2

14.3 ± 2.6

6.3 ± 1.5*

9.3 ± 1.0&

12.3

  1. *The significant difference between heterozygous FH patients and either homozygous FH or compound heterozygous FH patients.
  2. &The significant difference between the HeFH with high TC group and other HeFH patients group.
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