Table 1.

Association Analysis of Exonic SNPs in PCSK9 With LDL-C in SHFS

SNP_ID	SNP	Ref. allele	Effect allele	P	β	se	MAF (%)c				Ref.c
							Am. Indians	White	Black	Hisp.
MAF<1% in American Indians
rs11591147	R46L	G	T	1.4 × 10−5	−31.1	7.1	0.9a	1.6–2.6a	0.28	0.75	8, 9, 13
rs28385701	Synon	G	A	.6	−7.8	16.8	0.6
rs28362261	N425S	A	G	.7	−4.7	11.5	0.2	0	1.9	0.2	13
rs28362263	A443T	G	A	.9	−2.7	19.3	0.1	0.05	9.4a	1.3	13
MAF > 1% in American Indians
rs505151	E670G	A	G	3.6 × 10−5	15.0	3.6	1.8b	3.6b	26	4.2	13,16 ,18
rs562556	I474V	A	G	.04	−2.9	1.4	10.7	18	22	9.7	13
rs540796	Synon	G	A	.04	−2.9	1.4	12.4
No Mutation in American Indians
rs67608943	Y142X	C					0	0	0.8a	0	8, 13
rs28362286	C679X	C					0	0	1.8a	0.08	8, 13
rs72646508	L253F	A					0	0	0.25a	0	13
rs28362270	H553R	A					0	0	1.3b	0	13

@14/23 coding SNPs in PCSK9 on Metabochip are monomorphic in American Indians (R104H, L112L, L118F, Y142X, L253F, P279T, Q344K, D432N, G466E, H553R, P576L, Q619P, D660H, C679X).

^aThe mutation was associated with hypocholesterolemia.

^bThe mutation was associated with hypercholesterolemia.

^cThe allele frequencies of White, Black, and Hispanic are summarized from indicated references.

Abbreviations: Ref, reference; Am, American; Hisp, Hispanic.