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Table 5 Association of LDLR sequence variants among patients to their demographic characteristics, medical history, clinical finding and lipid profile parameters (n = 154)

From: Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia

Variables (n = 164)

Patients with non-

pathogenic variants

(n = 112) (72.7%)

Patients with

pathogenic variants

(n = 42) (27.3%)

P value

A)Demographic characteristics

   

Age (year)*a

46.2(11.4)

40.3(12.7)

0.007

Sex

60(53.6)

21(50.0)

0.72

Female

52(46.4)

21(50.0)

 

Male

   

B) Medical history

   

CVD (%)b

68(60.7)

37(88.1)

0.001

Age of onset of CVD(%)b **

42.7(6.4)

39.3(9.3)

0.03

Hypertension (%)b

30(26.8)

4(9.5)

0.03

Family history of PCVD (%)b

60(53.6)

29(69.0)

0.1

Family history of hyperlipidemia (%)b

59(52.7)

31(73.8)

0.03

Family history of tendon xanthoma (%)b

32(28.6)

16(38.1)

0.3

C) Clinical examination

   

BMI

27.1(4.5)

28.2(5.5)

0.25

Tendon xanthoma

35(31.3)

28(66.7)

<0.001

(%)bArcus

57(50.9)

20(47.6)

0.9

(%)bXanthelasma (%)b

24(21.4)

15(35.7)

0.09

D) Lipid profile parameters a

   

TC(mmol/l)*

7.7(0.9)

8.3 (1.2)

0.001

TG (mmol/l)*

1.9(0.8)

1.7(0.9)

0.19

HDL-C (mmol/l)*

1.3(0.3)

1.3(0.4)

0.96

LDL-C (mmol/l)*

4.9(0.8)

5.2(1.1)

0.02

TC/HDL-C ratio *

6.5(2.4)

6.9(1.9)

0.23

  1. *Data are expressed as mean (S.D).
  2. a ANOVA test was used
  3. b Chi square test was used
  4. c The pathogenic mutations are reported 43 times according to Table 2 and these were found among 42 patients as one patient was reported to have 2 pathogenic mutations [Glu101Lys+Dup exon 12].