Appendix Table.

Single Nucleotide Polymorphisms Associated With Coronary Heart Disease That Were Identified in a Study by the Wellcome Trust Case Control Consortium^a

dbSNPb ID No.	Chromosome	Nearest Gene(s)	OMIMc No.	Function	Reference No. (Current Study)	Genomic Distance (Base Pairs)d
rs599839	1p21	CELSR2	604265	Knockdown in rat pups resulted in abnormal dendritic arborization	39, 40	29,515
	1p13.3	PSRC1		Down-regulated by p53 and DNA damage	41	3′-UTR
	1p21.3–p13.1	SORT1	602458	Sorting protein in rat adipocyte vesicles transporting SLC2A4 to plasma membrane in response to insulin; binds LPL in adipocytes	36, 42, 43	118,407
rs17465637	1q41	MIA3		Extracellular protein broadly expressed in human tissues; tumor suppressor in melanoma cell lines	44, 45	Intronic
rs17672135	1q43	FMN2	606373	Maternal effect gene required for progression through meiosis I in mice	46, 47	Intronic
rs2943634	2q36
rs383830	5q21.1	FAM174A		Hypothetical protein		77,848
rs6922269	6q25.1	MTHFD1L	611427	MTHFD1L catalyzes tetrahydrofolate synthesis in mitochondria; involved in de novo synthesis of purines and regeneration of methionine from homocysteine; homocysteine identified as a risk factor for vascular disease	48–50	Intronic
rs1333049	9p21	CDKN2A/CDKN2B	600160	CDKN2A encodes 2 proteins: p16(INK4), a cyclin-dependent kinase inhibitor, and p14(ARF), involved in p53 regulation; CDKN2B is an effector of TGFB-mediated cell cycle arrest	51, 52	150,455
			600431			116,181
		CDKN2BAS		Noncoding RNA	53	130,703
rs501120	10q11.1	CXCL12	600835	Involved in platelet aggregation and expressed in macrophages in human atherosclerotic plaques	35	126,685
rs17228212	15q22.33	SMAD3	603109	Transcriptional modulator activated by TGFB; Smad3 (−/−) mice show enhanced intimal hyperplasia after vascular injury; SMAD3 expression detected in human atherosclerotic lesions and restenotic plaques	54–56	Intronic
rs8055236	16q24.2–q24.3	CDH13	601364	Receptor for adiponectin; associated with adiponectin levels and blood pressure; expressed in endothelial and smooth muscle cells, atherosclerotic lesions, and restensotic plaques; inhibits attachment of human aortic smooth muscle cells and endothelial cells in culture	57–60	Intronic
rs7250581	19q12	POP4	606114	Subunit of human ribonuclease P; associated with RMRP, which is involved in pre-rRNA processing	61, 62	32,815
rs688034	22q12.1	SEZ6L	607021	Associated with lung cancer	63, 64	Intronic

Abbreviations: CDH13, cadherin 13, H-cadherin (heart); CDKN2A, cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4); CDKN2B, cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4); CDKN2BAS, CDKN2B antisense RNA (non-protein-coding); CELSR2, cadherin, EGF LAG 7-pass G-type receptor 2 (flamingo homolog, Drosophila); CXCL12, chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1); FAM174A, family with sequence similarity 174, member A; FMN2, formin 2; ID, identification; LPL, lipoprotein lipase; MIA3, melanoma inhibitory activity family, member 3; MTHFD1L, methylenetetrahydrofolate dehydrogenase (NADP+-dependent) 1-like; OMIM, Online Mendelian Inheritance in Man; p53, transformation-related protein 53; POP4, processing of precursor 4, ribonuclease P/MRP subunit (Saccharomyces cerevisiae); PSRC1, proline/serine-rich coiled-coil 1; RMRP, RNA component of mitochondrial RNA processing endoribonuclease; rs, reference SNP; SEZ6L, seizure-related 6 homolog (mouse)-like; SLC2A4, solute carrier family 2 (facilitated glucose transporter), member 4; SMAD3, SMAD family member 3; SNP, single nucleotide polymorphism; SORT1, sortilin 1; TGFB, transforming growth factor β1; UTR, untranslated region.

^aWellcome Trust Case Control Consortium, 2007 (2).

^bThe National Center for Biotechnology Information's SNP database (http://www.ncbi.nlm.nih.gov/SNP/).

^cMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, Maryland) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, Maryland) (http://www.ncbi.nlm.nih.gov/omim/).

^dGenomic distance from the SNP (calculated using HapMap Data Release 27, February 2009 (1)).