The relevance of ABCA1 R219K polymorphisms and serum ABCA1 protein concentration to Parkinson's disease pathogenesis and classification: a case–control study

详细信息    查看全文

• 作者：Xiaoliu Dong ; Tiejun Liu ; Shijun Xu ; Lixia Zhu ; Panpan Zhang…
• 关键词：ABCA1 R219K polymorphisms ; ABCA1 serum concentration ; Pathogenesis ; Classification ; Parkinson’s disease ; K allele ; Protective factor
• 刊名：Genes & Genomics
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：38
• 期：3
• 页码：243-250
• 全文大小：728 KB
• 参考文献：Chen Y, Lin Y, Vithana EN, Jia L, Zuo X, Wong TY, Chen LJ, Zhu X, Tam PO, Gong B et al (2014) Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma. Nat Genet 46:1115–1119CrossRef PubMed
  Choi HY, Karten B, Chan T, Vance JE, Greer WL, Heidenreich RA, Garver WS, Francis GA (2003) Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease. J Biol Chem 278:32569–32577CrossRef PubMed
  Collins LM, Toulouse A, Connor TJ, Nolan YM (2012) Contributions of central and systemic inflammation to the pathophysiology of Parkinson’s disease. Neuropharmacology 62:2154–2168CrossRef PubMed
  Corti O, Lesage S, Brice A (2011) What genetics tells us about the causes and mechanisms of Parkinson’s disease. Physiol Rev 91:1161–1218CrossRef PubMed
  Emre M, Aarsland D, Brown R, Burn DJ, Duyckaerts C, Mizuno Y, Broe GA, Cummings J, Dickson DW, Gauthier S et al (2007) Clinical diagnostic criteria for dementia associated with Parkinson’s disease. Mov Disord 22:1689–1707 quiz 1837 CrossRef PubMed
  Farooqui T, Farooqui AA (2011) Lipid-mediated oxidative stress and inflammation in the pathogenesis of Parkinson’s disease. Parkinsons Dis 2011:247467PubMedCentral PubMed
  Ferrari CC, Tarelli R (2011) Parkinson’s disease and systemic inflammation. Parkinsons Dis 2011:436813PubMedCentral PubMed
  Goetz CG, Stebbins GT, Chmura TA, Fahn S, Klawans HL, Marsden CD (1995) Teaching tape for the motor section of the unified Parkinson’s disease rating scale. Mov Disord 10:263–266CrossRef PubMed
  Guay SP, Brisson D, Munger J, Lamarche B, Gaudet D, Bouchard L (2012) ABCA1 gene promoter DNA methylation is associated with HDL particle profile and coronary artery disease in familial hypercholesterolemia. Epigenetics 7:464–472CrossRef PubMed
  Herman T, Weiss A, Brozgol M, Giladi N, Hausdorff JM (2014) Gait and balance in Parkinson’s disease subtypes: objective measures and classification considerations. J Neurol 261:2401–2410CrossRef PubMed
  Jasmin SB, Pearson V, Lalonde D, Domenger D, Theroux L, Poirier J (2014) Differential regulation of ABCA1 and ABCG1 gene expressions in the remodeling mouse hippocampus after entorhinal cortex lesion and liver-X receptor agonist treatment. Brain Res 1562:39–51CrossRef PubMed
  Karasinska JM, de Haan W, Franciosi S, Ruddle P, Fan J, Kruit JK, Stukas S, Lutjohann D, Gutmann DH, Wellington CL et al (2013) ABCA1 influences neuroinflammation and neuronal death. Neurobiol Dis 54:445–455CrossRef PubMed
  Khorram Khorshid HR, Gozalpour E, Kamali K, Ohadi M, Karimloo M, Shahhosseiny MH (2011) The association between Sporadic Alzheimer’s disease and the human ABCA1 and APOE gene polymorphisms in Iranian population. Iran Red Crescent Med J 13:256–262PubMedCentral PubMed
  Koldamova R, Fitz NF, Lefterov I (2010) The role of ATP-binding cassette transporter A1 in Alzheimer’s disease and neurodegeneration. Biochim Biophys Acta 1801:824–830PubMedCentral CrossRef PubMed
  Kumar R, McClain D, Young R, Carlson GA (2008) Cholesterol transporter ATP-binding cassette A1 (ABCA1) is elevated in prion disease and affects PrPC and PrPSc concentrations in cultured cells. J Gen Virol 89:1525–1532PubMedCentral CrossRef PubMed
  Li Y, Tang K, Zhou K, Wei Z, Zeng Z, He L, Wan C (2012) Quantitative assessment of the effect of ABCA1 R219K polymorphism on the risk of coronary heart disease. Mol Biol Rep 39:1809–1813CrossRef PubMed
  Loane DJ, Washington PM, Vardanian L, Pocivavsek A, Hoe HS, Duff KE, Cernak I, Rebeck GW, Faden AI, Burns MP (2011) Modulation of ABCA1 by an LXR agonist reduces beta-amyloid levels and improves outcome after traumatic brain injury. J Neurotrauma 28:225–236PubMedCentral CrossRef PubMed
  Mandolini C, Santovito D, Marcantonio P, Buttitta F, Bucci M, Ucchino S, Mezzetti A, Cipollone F (2015) Identification of microRNAs 758 and 33b as potential modulators of ABCA1 expression in human atherosclerotic plaques. Nutr Metab Cardiovasc Dis 25:202–209CrossRef PubMed
  Ota M, Fujii T, Nemoto K, Tatsumi M, Moriguchi Y, Hashimoto R, Sato N, Iwata N, Kunugi H (2011) A polymorphism of the ABCA1 gene confers susceptibility to schizophrenia and related brain changes. Prog Neuropsychopharmacol Biol Psychiatry 35:1877–1883CrossRef PubMed
  Panaro MA, Cianciulli A (2012) Current opinions and perspectives on the role of immune system in the pathogenesis of Parkinson’s disease. Curr Pharm Des 18:200–208CrossRef PubMed
  Ray Chaudhuri K, Rojo JM, Schapira AH, Brooks DJ, Stocchi F, Odin P, Antonini A, Brown RJ, Martinez-Martin P (2013) A proposal for a comprehensive grading of Parkinson’s disease severity combining motor and non-motor assessments: meeting an unmet need. PLoS One 8:e57221PubMedCentral CrossRef PubMed
  Schapira AH, Jenner P (2011) Etiology and pathogenesis of Parkinson’s disease. Mov Disord 26:1049–1055CrossRef PubMed
  Song W, Guo X, Chen K, Chen X, Cao B, Wei Q, Huang R, Zhao B, Wu Y, Shang HF (2014) The impact of non-motor symptoms on the Health-Related Quality of Life of Parkinson’s disease patients from Southwest China. Parkinsonism Relat Disord 20:149–152CrossRef PubMed
  Stukas S, May S, Wilkinson A, Chan J, Donkin J, Wellington CL (2012) The LXR agonist GW3965 increases apoA-I protein levels in the central nervous system independent of ABCA1. Biochim Biophys Acta 1821:536–546CrossRef PubMed
  Sundar PD, Feingold E, Minster RL, DeKosky ST, Kamboh MI (2007) Gender-specific association of ATP-binding cassette transporter 1 (ABCA1) polymorphisms with the risk of late-onset Alzheimer’s disease. Neurobiol Aging 28:856–862CrossRef PubMed
  Tsanas A, Little MA, McSharry PE, Ramig LO (2011) Nonlinear speech analysis algorithms mapped to a standard metric achieve clinically useful quantification of average Parkinson’s disease symptom severity. J R Soc Interface 8:842–855PubMedCentral CrossRef PubMed
  Wahrle SE, Jiang H, Parsadanian M, Legleiter J, Han X, Fryer JD, Kowalewski T, Holtzman DM (2004) ABCA1 is required for normal central nervous system ApoE levels and for lipidation of astrocyte-secreted apoE. J Biol Chem 279:40987–40993CrossRef PubMed
  Wahrle SE, Shah AR, Fagan AM, Smemo S, Kauwe JS, Grupe A, Hinrichs A, Mayo K, Jiang H, Thal LJ et al (2007) Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms. Mol Neurodegener 2:7PubMedCentral CrossRef PubMed
  Wollmer MA, Streffer JR, Lutjohann D, Tsolaki M, Iakovidou V, Hegi T, Pasch T, Jung HH, Bergmann K, Nitsch RM et al (2003) ABCA1 modulates CSF cholesterol levels and influences the age at onset of Alzheimer’s disease. Neurobiol Aging 24:421–426CrossRef PubMed
  
• 作者单位：Xiaoliu Dong (1)
  Tiejun Liu (2)
  Shijun Xu (1)
  Lixia Zhu (1)
  Panpan Zhang (3)
  Aibin Cheng (4)
  Qingqiang Qian (5)
  
  1. Department of Neurology, Tangshan People’s Hospital, No.65 Shengli Road, Tangshan, 063000, People’s Republic of China
  2. Department of Anesthesiology, North China University of Science and Technology Affiliated Hospital, Tangshan, 063000, People’s Republic of China
  3. Department of Respiratory, North China University of Science and Technology Affiliated Hospital, Tangshan, 063000, People’s Republic of China
  4. Intensive Care Unit, North China University of Science and Technology Affiliated Hospital, Tangshan, 063000, People’s Republic of China
  5. Department of Neurology, North China University of Science and Technology Affiliated Hospital, Tangshan, 063000, People’s Republic of China
  
• 刊物主题：Microbial Genetics and Genomics; Plant Genetics & Genomics; Animal Genetics and Genomics; Human Genetics;
• 出版者：Springer Netherlands
• ISSN：2092-9293

文摘

To investigate the relevance of ABCA1 R219K polymorphisms and serum ABCA1 protein concentration to Parkinson’s disease (PD) pathogenesis and classification in Chinese population. Between June 2013 to January 2014, 108 patients diagnosed with PD at Department of Neurology, Tangshan People’s Hospital, Tangshan were enrolled in the PD group, and 123 healthy individuals, from Health Screening Center of the same hospital, with matched age, gender, and education were enrolled in the control group. Polymerase chain reaction–restriction fragment length polymorphism method was used to detect ABCA1 R219K polymorphisms and enzyme-linked immunosorbent assay used to measure serum ABCA1 concentrations. Frequencies of R/K and K/K genotypes, and K allele of ABCA1 R219K polymorphisms were significantly lower in the PD group than the control group (all P < 0.05). Significant differences existed in distributions of genotype frequencies, including R/R, R/K and K/K, between PD and control group of each classification (all P < 0.05). ABCA1 concentrations were significantly different in the PD and control group (P < 0.05); also ABCA1 concentrations were very different among PD patients with different genotypes (all P < 0.05). Serum concentrations of ABCA1were significantly different among PD patients in different classifications (all P < 0.05), suggesting the negative correlation between ABCA1 serum concentration and PD classification (r = −0.776, P < 0.05). And serum concentrations of ABCA1 showed obvious differences among cases with three different genotypes in each classification (all P < 0.05). ABCA1 R219K polymorphisms and serum concentration were associated with pathogenesis and classification of PD, and K allele may be a protective genetic factor.