Functional Analysis of UTR Variants at the LDLR and PCSK9 Genes in Patients with Familial Hypercholesterolemia

Table 1

Main clinical characteristics of patients and results of genetic testing.

		Positive genetic test	Negative genetic test	Odds ratio	value
Total patients	409	164 (40.1%)	245 (59.9%)
Sex	Female; Male	91; 73	144; 101	0.874
Age (years)
LDL-c (mg/dL)	>250; <250	96; 55	85; 149	3.060
Family history of dyslipemia	Yes; No	126; 23	171; 57	1.826
Family history of CVD/CAD	Yes; No	79; 70	148; 81	0.618
Personal history of CVD/CAD	Yes; No	22; 128	54; 176	0.560
Genetic variants			(%)
LDLR			138 (84%)
APOB			19 (12%)
PCSK9			7 (4%)

CVD/CAD: cardiovascular disease/coronary artery disease. Note: Data of LDL-c was available in 385 (94%); of family history of dyslipidemia, in 378 (92%); of family history of CVD/CAD, in 377 (92%); and of personal history of CVD/CAD in 380 (93%).