Table 3.

Genes associated with the Extracellular Matrix and Basement Membrane structure and maintenance

Gene	Name	Ensemble cytogenetic band	Case-Control Assoc with AMD	Within reported region of AMD linkage	Assoc with Juv. MD	Reference
ELN	Elastin	7q11.23	+			(Kondo et al., 2008; Lima et al., 2011; Vierkotten et al., 2011; Yamashiro et al., 2011)
COL10A1	Collagen, type X, alpha 1	6q22.1	+	+		(Yu et al., 2011a)
HMCN1	Hemicentin-1, Fibulin-6	1q25.3	+	+		(Schultz et al., 2003)
ARMS2	Age-related maculopathy susceptibility 2	10q26.13	+	+		(Kortvely et al., 2010)
TIMP3	Tissue inhibitor of metalloproteinase-3	22q12.3	+	+	Sorsby Fundus Dystrophy	(Chen et al., 2010a; Fauser et al., 2011; Lin et al., 2006)
SELP	Selectin-P	1q24.2	(+)	-		(Mullins et al., 2011)
ROBO1	Roundabout, axon guidance receptor, homolog 1	3p12.2	+	+		(Schaumberg et al., 2010; Silveira et al., 2010)
EFEMP1	EGF-containing fibulin-like extracellular matrix protein, Fibulin-3	2p16.1	-	-	Malattia Leventinese, Doyne Honeycomb Retinal Dystrophy	(Fu et al., 2007; Narendran et al., 2005)
FBLN5	Fibulin-5	14q32.12	+	-		(Auer-Grumbach et al., 2011; Stone et al., 2004)
LOXL1	Lysyl oxidase-like 1	15q24.1	+/-	-		(Fuse et al., 2011; Lepre et al., 2011; Sakurada et al., 2011)
C1QTNF5	CRTP5, complement C1q tumor necrosis factor-related protein 5	11q23.3	-	-	Late-onset retinal degeneration (LORD, L-ORMD)	(Ayyagari et al., 2005; Shu et al., 2006a; Shu et al., 2006b)
COL8A1	Collagen, type VIII, alpha 1	3q12.1	(+)	+		(Yu et al., 2011a)
COL15A1*	Collagen, type XV, alpha 1	9q22.33	+	+		AMD consortium