Table 3:

Main familial hypercholesterolemia variants and Quebec MSSS French-Canadian variants identified in the cohort

Gene; variant	Known name	No. (%) of patients^*			p value^†
Gene; variant	Known name	Overall n = 169	Index n = 132	Identified via cascade screening n = 37	p value^†
*LDLR*		146 (86.4)	112 (84.8)	34 (91.9)	0.3
p.Cys681^*	C660^*	15 (8.9)	10 (7.6)	5 (13.5)	0.3
p.Ala431Thr	A410T	6 (3.6)	2 (1.5)	4 (10.8)	0.02
p.Asp90Asn	D69N	4 (2.4)	1 (0.8)	3 (8.1)	0.02
p.Gly592Glu	G571E	3 (1.8)	2 (1.5)	1 (2.7)	0.6
MSSS French-Canadian variants		81 (47.9)	65 (49.2)	16 (43.2)
Delta 15 kb	Delta 15 kb (FH French-Canadian-1)	55 (32.5)	42 (31.8)	13 (35.1)	0.7
Delta 5 kb	Delta 5 kb (FH French-Canadian-5)	0 (0.0)	0 (0.0)	0 (0.0)	–
p.Trp87Gly	W66G (FH French-Canadian-4)	10 (5.9)	9 (6.8)	1 (2.7)	0.3
p.Cys667Tyr	C646Y (FH French-Canadian-2)	6 (3.6)	5 (3.8)	1 (2.7)	0.7
p.Cys173Trp	C152W	0 (0.0)	0 (0.0)	0 (0.0)
p.Glu228Lys	E207K (FH French-Canadian-3)	4 (2.4)	4 (3.0)	0 (0.0)	0.2
p.Arg350^*	R329^* (FH Fossum)	2 (1.2)	2 (1.5)	0 (0.0)	0.3
p.Cys368Arg	C347R	4 (2.4)	3 (2.3)	1 (2.7)	0.9
p.Tyr375Cys	Y354C	0 (0.0)	0 (0.0)	0 (0.0)	–
p.Tyr489^*	Y468^*	0 (0.0)	0 (0.0)	0 (0.0)	–
681ins7	–	0 (0.0)	0 (0.0)	0 (0.0)	–
Other		39 (23.1)	34 (25.8)	5 (13.5)	–
*APOB*		24 (14.2)	20 (15.2)	4 (10.8)	0.5
p.Thr3496Ala	–	3 (1.8)	2 (1.5)	1 (2.7)	0.6
p.Arg3527Gln	–	3 (1.8)	3 (2.3)	0 (0.0)	0.2
Other		20 (11.8)	17 (12.9)	3 (8.1)	–
*PCSK9*		6 (3.6)	5 (3.8)	1 (2.7)	0.7

Note: FH = familial hypercholesterolemia, MSSS = Ministère de la Santé et des Services sociaux (Ministry of Health and Social Services).
↵* Includes 11 patients with multiple variants.
↵† For difference between index patients and those identified via cascade-screening (χ² test).