title: Biased homozygous haplotypes across the human caveolin 1 upstream purine complex in Parkinson's disease.
abstract: The alpha-synuclein-caveolin 1 axis is suggested to be of role in the pathogenesis of Parkinson's disease in cell line models. The objective of this study was to analyze the homozygous haplotype compartment of the human caveolin 1 gene upstream purine complex in patients afflicted with Parkinson's disease. This complex was screened in patients with Parkinson's disease (n = 141) and compared with a group of controls (n = 760) using polymerase chain reaction and sequencing. The expression activity of the homozygous haplotypes was then examined using luciferase Dual-Glo system in human neuronal cell line, LAN-5. Six haplotypes were found to be homozygous in the patients, and not in the control pool (Fisher exact p < 1 × 10(-6)). Three of those haplotypes were specific to Parkinson's disease (Fisher exact p < 0.002), and the remaining three overlapped with homozygous haplotypes in Alzheimer's disease and multiple sclerosis (Fisher exact p < 0.002). The disease haplotypes contained motif lengths that were nonexistent in the control homozygous haplotype pool and significantly increased gene expression (p < 9 × 10(-6)). We conclude that skew in the caveolin 1 purine complex homozygous haplotype compartment and an additive effect of those haplotypes may be linked with Parkinson's disease.
authors: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, darvish_mg@yahoo.com.
authors: Hossein
authors: H
authors: Darvish
authors: Abolfazl
authors: A
authors: Heidari
authors: Saman
authors: S
authors: Hosseinkhani
authors: Abolfazl
authors: A
authors: Movafagh
authors: Ali
authors: A
authors: Khaligh
authors: Javad
authors: J
authors: Jamshidi
authors: Hamid
authors: H
authors: Noorollahi-Moghaddam
authors: Hamid Reza
authors: HR
authors: Heidari-Rostami
authors: Siamak
authors: S
authors: Karkheiran
authors: Gholam-Ali
authors: GA
authors: Shahidi
authors: Mansoureh
authors: M
authors: Togha
authors: Seyed Mohammad Hassan
authors: SM
authors: Paknejad
authors: Hossein
authors: H
authors: Ashrafian
authors: Siamak
authors: S
authors: Abdi
authors: Saghar Ghasemi
authors: SG
authors: Firouzabadi
authors: Seyed Hamid
authors: SH
authors: Jamaldini
authors: Mina
authors: M
authors: Ohadi
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D051242:Caveolin 1 / Q000235:genetics*; D002460:Cell Line; D005260:Female; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D011687:Purines / Q000737:chemistry; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics
chemical_list: C495540:CAV1 protein, human; D051242:Caveolin 1; D011687:Purines
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