Neuroimaging Measures as Endophenotypes in Alzheimer's Disease

Table 1

Top AD risk genes.

	Gene	Protein	Population	Polymorphism
1	APOE_e2/3/4	apolipoprotein E	all	APOE_e2/3/4*
2	CLU	clusterin	all	rs11136000*
3	EXOC3L2	exocyst complex component 3-like 2	all	rs597668
4	BIN1	bridging integrator 1	all	rs744373
5	PICALM	phosphatidylinositol binding clathrin assembly protein	all	rs541458*
6	SORL1	sortilin-related receptor	Asian	rs2282649*
7	GWA_14q32.13	unknown	all	rs11622883
8	TNK1	tyrosine kinase non-receptor, 1	all	rs1554948
9	ACE	angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	Caucasian	rs1800764
10	IL8	interleukin 8	all	rs4073
11	LDLR	low density lipoprotein receptor	all	rs5930
12	CST3	cystatin C	Caucasian	rs1064039*
13	CR1	complement component (3b/4b) receptor 1 (Knops blood group)	all	rs6656401
14	hCG2039140	unknown	all	rs1903908
15	CHRNB2	cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)	all	rs4845378
16	SORCS1	sortilin-related VPS10 domain containing receptor 1	all	rs600879
17	TNF	tumor necrosis factor alpha	Asian	rs4647198
18	CCR2	chemokine (C-C motif) receptor 2	Caucasian	rs1799864

Genes listed represent those most highly associated with AD per alzgene.org [9] as of August 22, 2010. Only those with high or moderate epidemiological evidence are included above. Grading was based on HuGENet (Human Genome Epidemiology Network) interim criteria for the assessment of cumulative evidence of genetic associations [132].
*At least one neuroimaging study has investigated the effects of this polymorphism in the brain.