Novel extreme homozygote haplotypes at the human caveolin 1 gene upstream purine complex in sporadic Alzheimer's disease

• Published in: American journal of medical genetics. Part B, Neuropsychiatric genetics Vol. 153B; no. 1; pp. 347 - 349
• Main Authors: Zarif Yeganeh, M., Mirabzadeh, A., Khorram Khorshid, H.R., Kamali, K., Heshmati, Y., Gozalpour, E., Veissy, K., Olad Nabi, M., Najmabadi, H., Ohadi, M.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-01-2010; Wiley-Liss
• Subjects: Adult and adolescent clinical studies; Alleles; Alzheimer Disease - genetics; Alzheimer's disease; Biological and medical sciences; caveolin 1; Caveolin 1 - genetics; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; haplotype; Haplotypes; Homozygote; Humans; Medical genetics; Medical sciences; Neurology; Organic mental disorders. Neuropsychology; polymorphism; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Purines - metabolism; upstream; Human; Nervous system diseases; caveolin 1; upstream; Sporadic; Alzheimer disease; Cerebral disorder; Gene; Central nervous system disease; Genetics; Degenerative disease; Purine; Complex syndrome; Haplotype; Alzheimer's disease; Polymorphism
• ISSN: 1552-4841; 1552-485X
• DOI: 10.1002/ajmg.b.30985

Aberrant expression of the caveolin‐1 (CAV1) gene is associated with Alzheimer's disease (AD) brain. We have recently reported a polymorphic purine stretch located at between 1.8 and 1.5 kb flanking the CAV1 gene, whose alleles and genotypes are associated with late‐onset AD. Extra‐short homozygote haplotypes were observed that were present only in the AD cases. Following an independent case/control study, we report alleles at the other extreme of the allele range, haplotypes of which were observed to be homozygous across the region in the AD cases. We propose that there is a window for the length of motifs and haplotypes in the controls. Homozygosity for shorter and longer motifs and haplotypes was linked with AD in our study. Our findings elucidate novel predisposing haplotypes at the CAV1 gene purine complex, and confirm the role of this region in the etiopathophysiology of late‐onset AD. © 2009 Wiley‐Liss, Inc.