Ethnicity-dependent genetic association of ABCA2 with sporadic Alzheimer's disease

• Published in: American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2006-07, Vol.141B (5), p.534-536
• Main Authors: Wollmer, M. Axel, Kapaki, Elisabeth, Hersberger, Martin, Muntwyler, Jörg, Brunner, Fabienne, Tsolaki, Magdalini, Akatsu, Hiroyasu, Kosaka, Kenji, Michikawa, Makoto, Molyva, Dimitra, Paraskevas, Giorgos P., Lütjohann, Dieter, Eckardstein, Arnold von, Hock, Christoph, Nitsch, Roger M., Papassotiropoulos, Andreas
• Format: Article
• Language: English
• Subjects: Alzheimer Disease - cerebrospinal fluid; Alzheimer Disease - ethnology; Alzheimer Disease - genetics; Asian Continental Ancestry Group - genetics; atherosclerosis; Atherosclerosis (general aspects, experimental research); ATP-Binding Cassette Transporters - genetics; Biological and medical sciences; Blood and lymphatic vessels; Cardiology. Vascular system; cerebrospinal fluid; cholesterol; Cholesterol - cerebrospinal fluid; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Disorders of blood lipids. Hyperlipoproteinemia; European Continental Ancestry Group - genetics; Gene Frequency; Genetic Predisposition to Disease - ethnology; Genetic Predisposition to Disease - genetics; Genotype; Greece; Humans; Japan; Medical sciences; Metabolic diseases; Neurology; polymorphism; Polymorphism, Single Nucleotide; Switzerland
• ISSN: 1552-4841; 1552-485X
• DOI: 10.1002/ajmg.b.30345

A recent study demonstrated a significant genetic association between the ATP‐binding cassette transporter A2 (ABCA2) and the risk for Alzheimer's disease (AD) in a large Caucasian sample. The rare T allele of the synonymous exonic single nucleotide polymorphism (SNP) rs908832 was overrepresented in early‐onset AD patients as compared to cognitively healthy controls. Here we confirm the association of rs908832 with AD in a Western European population (n = 291, P = 0.008). In a second sample from Southern Europe, rs908832 was not associated with AD. Interestingly, rs908832 was not polymorphic in a Japanese sample. Furthermore, rs908832 was not associated with either serum cholesterol levels or with the risk for coronary artery disease, but seemed to be related to cholesterol levels in the cerebrospinal fluid. These data suggest that ABCA2 may exert population‐dependent effects on the genetic risk for sporadic AD and support a role of ABC lipid transporters in the pathogenesis of this disease. © 2006 Wiley‐Liss, Inc.