. Author manuscript; available in PMC: 2013 Feb 1.

Published in final edited form as: Arterioscler Thromb Vasc Biol. 2012 Feb;32(2):207–215. doi: 10.1161/ATVBAHA.111.232694

Table 1.

Human-mouse genomic homologies for CAD-associated loci: availability of mutant mouse models.

Human chr	SNP	Gene(s) in region	Related phenotype (human)	Murine homolog(s)	Mouse chr	Mutant models^*	Lesion phenotype	Related phenotype (mouse)
1	rs11206510⁴¹	PCSK9	LDL, TC^{3, 42, 43}	Pcsk9	4	KO, Tg (liver)		LDL, TC^{44, 45}
1	rs17114036⁸	PPAP2B		Ppap2b	4	KO (embryonic lethal)
1	rs599839^{41, 46}	SORT1	LDL, TC^{3, 42}	Sort1	3	KO, Tg		LDL, TC^{20, 47}
1	rs17465637^{41, 46}	MIA3		Mia3	1	KO (perinatal lethal)
2	rs4299376¹⁷	ABCG8	LDL, TC,^{3, 48} sitosterolemia⁴⁸	Abcg8	17	KO, Tg	↓ B6-Ldlr^−/−, Abcg8 Tg, WTD⁴⁹ -- B6-Ldlr^−/− or -Apoe^−/−, Abcg8 liver-specTg, chow⁵⁰ ↓ B6-Ldlr^−/−, Abcg8 liver-specTg, WTD+ezetimibe⁵¹	LDL, TC, sitosterolemia^{49, 52}
2	rs6725887⁴¹	WDR12		Wdr12	1	KO (ES cell)
3	rs2306374⁵³	MRAS		Mras	9	KO
5	rs2706399¹⁷	IL5		Il5	11	KO, Tg
6	Rs6903956³¹	C6orf105		9530008L14Rik	13
6	rs12526453⁴¹	PHACTR1		Phactr1	13	KO (ES cell)
6	rs17609940⁸	ANKS1A		Anks1	17	KO (perinatal lethal)
6	rs12190287⁸	TCF21		Tcf21	10	KO
6	rs3798220⁵⁴ rs10455872⁵⁴	LPA	LDL, TC³ Lp(a)⁵⁴	___	___	huTg	↑ B6xSJL huLPA Tg, HFD⁵⁵ ↑ B6 huAPOB, LPA Tg, WTD⁵⁶ -- B6-Ldlr^−/−, huAPOB, LPA Tg, chow⁵⁷	LDL, TC, Lp(a)⁵⁸
7	rs10953541⁹	BCAP29 PRKAR2B HBP1 COG5 GPR22 DUS4L		Bcap29 Prkar2b Hbp1 Cog5 Gpr22 Dus4l	12	KO (ES cell) KO KO KO (ES cell) KO KO (ES cell)		body weight^{59, 60} insulin resistance⁶⁰ heart failure⁶¹
7	rs11556924⁸	ZC3HC1		Zc3hc1	6	KO
8	rs17321515¹⁷	TRIB1	TG, LDL, TC, HDL^{3, 42}	Trib1	15	KO		LDL, TC, TG²¹
9	rs4977574^{41, 46, 62–64}	ANRIL CDKN2A (p16^INK4a, p14^ARF) CDKN2B(p15^INK4b) MTAP		no contiguous segment) Cdkn2a (p16^Ink4a, p19^Arf) Cdkn2b (p15^Ink4b) Mtap	4	locus deletion KO, Tg KO, Tg,(promoter), spont mutation	-- 129Sv locus deletion, HFD³⁰ ↑ B6-Ldlr^−/−, p16^Ink4a, p19^Arf BM-specKO, WTD²⁴ ↑ B6-Apoe^−/−, p19^Arf KO, HFDb⁶⁵
9	rs579459^{8, 22}	ABO	LDL, TC^{3, 66} thrombosis⁶⁷ inflammation^68–71	Abo	2	KO (ES cell)
10	rs2505083⁹	KIAA1462		9430020K01Rik	18	KO (ES cell)
10	rs1746048^{41, 46}	CXCL12		Cxcl12	6	KO (embryonic lethal) Tg (general, EGFP, endothelial-specific)
10	rs2246942⁹	LIPA		Lipa	19	KO		lipase deficiency
10	rs12413409⁸	CYP17A1 NT5C2	blood pressure⁷²	Cyp17a1 Nt5c2	19	KO (embryonic lethal) KO (ES cell)
11	rs974819⁹	PDGFD		Pdgfd	9	KO
11	rs964184⁸	APOA1/C3/A4/A5	TG, HDL^{3, 42}	Apoa1/c3/a4/a5	9	KO, Tg (single and compound alleles)	↓ B6-huAPOA1 Tg, HFD⁷³ ↓ B6-Apoe^−/−, huAPOA1 Tg, chow⁷⁴ ↑ B6,mixed-huAPOBTg, Apoa1^−/−, WTD⁷⁵ ↓ B6-Apoe2 knock-in, huApoa5 Tg, WTD⁷⁶ -- 129/OlaxB6-Apoa1/c3/a4^−/− KO, WTD⁷⁷	HDL, LDL, TC, TG^{73, 77–79}
12	rs3184504⁸⁰	SH2B3	blood pressure⁸¹	Sh2b3	5	KO
13	rs4773144⁸	COL4A1/A2		Col4a1/a2	8	KO, chem/rad-induced
14	rs2895811⁸	HHIPL1		Hhipl1	12	KO (ES cell)
15	rs3825807^{8, 9, 22}	ADAMTS7		Adamtsl7	9	KO (ES cell)
17	rs216172⁸	SMG6 SRR		Smg6 Srr	11	KO KO, Tg (EGFP), chem-induced
17	rs12936587⁸	PEMT		Pemt	11	KO, spont mutation	↓ B6-Ldlr^−/−, Pemt^−/−, HF/HC⁸² ↓ B6-Apoe^−/−, Pemt^−/−, chow⁸³	TG, LDL, VLDL, TC,^{82, 83} intrahepatic cholestasis⁸⁴
17	rs46522	GIP SNF8 UBE2Z ATP5G1		Gip Snf8 Ube2z Atp5g1	11	KO (ES cell) KO KO (ES cell) KO (ES cell)
19	rs1122608⁴¹	LDLR	LDL, TC, FH^{3, 85}	Ldlr	9	KO, Tg, chem.-induced	↑ B6x129Sv-Ldlr^−/−, HFD⁸⁶	LDL, TC, xanthomatosis⁸⁷
19	rs2075650¹⁷	APOE	LDL, TC, HDL^{3, 42, 88}	Apoe	7	KO, Tg, rad-induced, spont mutation	↑ B6x129Sv-Apoe^−/−, chow⁸⁹ ↑ B6x129Sv-Apoe^−/−, chow and WTD^{90, 91}	LDL, TC, HDL, xanthomatosis^{89, 90}
21	rs9982601⁴¹	MRPS6		Mrps6	16	KO (cell line)

Chr, chromosome; SNP, lead disease-associated single nucleotide polymorphism; KO, knock-out allele(s); Tg, transgenic allele(s); EGFP, enhanced green fluorescent protein; chem-induced, chemically-induced mutant allele(s); rad-induced, radiation-induced mutant allele(s); spont mutation, spontaneous mutant allele(s); FH, familial hypercholesterolemia.

Diets: WTD, Western-type diet (0.15% cholesterol, 21% fat); HFD, high-fat diet (1.25% cholesterol/15% fat/0.5% sodium cholate); HFDb, high-fat diet (10.8% total fat, 0.75% cholesterol without sodium cholate); HF/HC, high-fat/ high cholesterol diet (1.25% cholesterol, 20% olive oil.)

Mutant alleles listed at www.informatics.jax.org, www.sanger.ac.uk, www.mmrrc.org, and www.fimre.org.