用户名: 密码: 验证码:
A rapid and cost-effective method for genotyping apolipoprotein E gene polymorphism
详细信息    查看全文
  • 作者:Li Zhong ; Yong-Zhuang Xie ; Tian-Tian Cao ; Zongqi Wang…
  • 关键词:Apolipoprotein E ; APOE genotype ; Real Time PCR ; Sequencing ; TaqMan ; Polymorphism
  • 刊名:Molecular Neurodegeneration
  • 出版年:2016
  • 出版时间:December 2016
  • 年:2016
  • 卷:11
  • 期:1
  • 全文大小:1,921 KB
  • 参考文献:1.Das HK, McPherson J, Bruns GA, Karathanasis SK, Breslow JL. Isolation, characterization, and mapping to chromosome 19 of the human apolipoprotein E gene. J Biol Chem. 1985;260:6240–7.PubMed
    2.Mahley RW, Nathan BP, Pitas RE. Apolipoprotein E. Structure, function, and possible roles in Alzheimer’s disease. Ann N Y Acad Sci. 1996;777:139–45.PubMed CrossRef
    3.Mahley RW. Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science. 1988;240:622–30.PubMed CrossRef
    4.Farrer LA, Cupples LA, Haines JL, Hyman B, Kukull WA, Mayeux R, et al. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA. 1997;278:1349–56.PubMed CrossRef
    5.Corbo RM, Scacchi R. Apolipoprotein E (APOE) allele distribution in the world. Is APOE*4 a ‘thrifty’ allele? Ann Hum Genet. 1999;63:301–10.PubMed CrossRef
    6.Mahley RW, Rall Jr SC. Apolipoprotein E: far more than a lipid transport protein. Annu Rev Genomics Hum Genet. 2000;1:507–37.PubMed CrossRef
    7.Verghese PB, Castellano JM, Holtzman DM. Apolipoprotein E in Alzheimer’s disease and other neurological disorders. Lancet Neurol. 2011;10:241–52.PubMed PubMedCentral CrossRef
    8.Liu CC, Kanekiyo T, Xu H, Bu G. Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy. Nat Rev Neurol. 2013;9:106–18.PubMed PubMedCentral CrossRef
    9.Bu G. Apolipoprotein E and its receptors in Alzheimer’s disease: pathways, pathogenesis and therapy. Nat Rev Neurosci. 2009;10:333–44.PubMed PubMedCentral CrossRef
    10.Herz J, Chen Y. Reelin, lipoprotein receptors and synaptic plasticity. Nat Rev Neurosci. 2006;7:850–9.PubMed CrossRef
    11.Grehan S, Tse E, Taylor JM. Two distal downstream enhancers direct expression of the human apolipoprotein E gene to astrocytes in the brain. J Neurosci. 2001;21:812–22.PubMed
    12.Pitas RE, Boyles JK, Lee SH, Foss D, Mahley RW. Astrocytes synthesize apolipoprotein E and metabolize apolipoprotein E-containing lipoproteins. Biochim Biophys Acta. 1987;917:148–61.PubMed CrossRef
    13.Hatters DM, Peters-Libeu CA, Weisgraber KH. Apolipoprotein E structure: insights into function. Trends Biochem Sci. 2006;31:445–54.PubMed CrossRef
    14.Breslow JL, Zannis VI, SanGiacomo TR, Third JL, Tracy T, Glueck CJ. Studies of familial type III hyperlipoproteinemia using as a genetic marker the apoE phenotype E2/2. J Lipid Res. 1982;23:1224–35.PubMed
    15.Feussner G, Feussner V, Hoffmann MM, Lohrmann J, Wieland H, Marz W. Molecular basis of type III hyperlipoproteinemia in Germany. Hum Mutat. 1998;11:417–23.PubMed CrossRef
    16.Civeira F, Pocovi M, Cenarro A, Casao E, Vilella E, Joven J, et al. Apo E variants in patients with type III hyperlipoproteinemia. Atherosclerosis. 1996;127:273–82.PubMed CrossRef
    17.Burt TD, Agan BK, Marconi VC, He W, Kulkarni H, Mold JE, et al. Apolipoprotein (apo) E4 enhances HIV-1 cell entry in vitro, and the APOE epsilon4/epsilon4 genotype accelerates HIV disease progression. Proc Natl Acad Sci U S A. 2008;105:8718–23.PubMed PubMedCentral CrossRef
    18.Jacobs EG, Kroenke C, Lin J, Epel ES, Kenna HA, Blackburn EH, et al. Accelerated cell aging in female APOE-epsilon4 carriers: implications for hormone therapy use. PLoS One. 2013;8:e54713.PubMed PubMedCentral CrossRef
    19.Rebeck GW, Reiter JS, Strickland DK, Hyman BT. Apolipoprotein E in sporadic Alzheimer’s disease: allelic variation and receptor interactions. Neuron. 1993;11:575–80.PubMed CrossRef
    20.Saunders AM, Strittmatter WJ, Schmechel D, George-Hyslop PH, Pericak-Vance MA, Joo SH, et al. Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer’s disease. Neurology. 1993;43:1467–72.PubMed CrossRef
    21.Strittmatter WJ, Saunders AM, Schmechel D, Pericak-Vance M, Enghild J, Salvesen GS, et al. Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci U S A. 1993;90:1977–81.PubMed PubMedCentral CrossRef
    22.McMurdo L, Lidbury PS, Corder R, Thiemermann C, Vane JR. Heterogeneous receptors mediate endothelin-1-induced changes in blood pressure, hematocrit, and platelet aggregation. J Cardiovasc Pharmacol. 1993;22 Suppl 8:S185–8.PubMed CrossRef
    23.Bertram L, Tanzi RE. Thirty years of Alzheimer’s disease genetics: the implications of systematic meta-analyses. Nat Rev Neurosci. 2008;9:768–78.PubMed CrossRef
    24.Corder EH, Saunders AM, Risch NJ, Strittmatter WJ, Schmechel DE, Gaskell Jr PC, et al. Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nat Genet. 1994;7:180–4.PubMed CrossRef
    25.Greenberg SM, Rebeck GW, Vonsattel JP, Gomez-Isla T, Hyman BT. Apolipoprotein E epsilon 4 and cerebral hemorrhage associated with amyloid angiopathy. Ann Neurol. 1995;38:254–9.PubMed CrossRef
    26.Tsuang D, Leverenz JB, Lopez OL, Hamilton RL, Bennett DA, Schneider JA, et al. APOE epsilon4 increases risk for dementia in pure synucleinopathies. JAMA Neurol. 2013;70:223–8.PubMed PubMedCentral CrossRef
    27.Bras J, Guerreiro R, Darwent L, Parkkinen L, Ansorge O, Escott-Price V, et al. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. 2014;23:6139–46.PubMed PubMedCentral CrossRef
    28.Masterman T, Hillert J. The telltale scan: APOE epsilon4 in multiple sclerosis. Lancet Neurol. 2004;3:331.PubMed CrossRef
    29.Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res. 1990;31:545–8.PubMed
    30.Zivelin A, Rosenberg N, Peretz H, Amit Y, Kornbrot N, Seligsohn U. Improved method for genotyping apolipoprotein E polymorphisms by a PCR-based assay simultaneously utilizing two distinct restriction enzymes. Clin Chem. 1997;43:1657–9.PubMed
    31.Srinivasan JR, Kachman MT, Killeen AA, Akel N, Siemieniak D, Lubman DM. Genotyping of apolipoprotein E by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Rapid Commun Mass Spectrom. 1998;12:1045–50.PubMed CrossRef
    32.Zhan XH, Zha GC, Jiao JW, Yang LY, Zhan XF, Chen JT, et al. Rapid identification of apolipoprotein E genotypes by high-resolution melting analysis in Chinese Han and African Fang populations. Exp Ther Med. 2015;9:469–75.PubMed PubMedCentral
    33.Poulson MD, Wittwer CT. Closed-tube genotyping of apolipoprotein E by isolated-probe PCR with multiple unlabeled probes and high-resolution DNA melting analysis. Biotechniques. 2007;43:87–91.PubMed CrossRef
    34.Koch W, Ehrenhaft A, Griesser K, Pfeufer A, Muller J, Schomig A, et al. TaqMan systems for genotyping of disease-related polymorphisms present in the gene encoding apolipoprotein E. Clin Chem Lab Med. 2002;40:1123–31.PubMed CrossRef
    35.Calero O, Hortiguela R, Bullido MJ, Calero M. Apolipoprotein E genotyping method by real time PCR, a fast and cost-effective alternative to the TaqMan and FRET assays. J Neurosci Methods. 2009;183:238–40.PubMed CrossRef
    36.Holland PM, Abramson RD, Watson R, Gelfand DH. Detection of specific polymerase chain reaction product by utilizing the 5’----3’ exonuclease activity of Thermus aquaticus DNA polymerase. Proc Natl Acad Sci U S A. 1991;88:7276–80.PubMed PubMedCentral CrossRef
    37.Seet WT, Mary Anne TJ, Yen TS. Apolipoprotein E genotyping in the Malay, Chinese and Indian ethnic groups in Malaysia-a study on the distribution of the different apoE alleles and genotypes. Clin Chim Acta. 2004;340:201–5.PubMed CrossRef
    38.Sperling RA, Aisen PS, Beckett LA, Bennett DA, Craft S, Fagan AM, et al. Toward defining the preclinical stages of Alzheimer’s disease: recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease. Alzheimers Dement. 2011;7:280–92.PubMed PubMedCentral CrossRef
    39.Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families. Science. 1993;261:921–3.PubMed CrossRef
    40.Poirier J, Delisle MC, Quirion R, Aubert I, Farlow M, Lahiri D, et al. Apolipoprotein E4 allele as a predictor of cholinergic deficits and treatment outcome in Alzheimer disease. Proc Natl Acad Sci U S A. 1995;92:12260–4.PubMed PubMedCentral CrossRef
    41.Petersen RC, Thomas RG, Grundman M, Bennett D, Doody R, Ferris S, et al. Vitamin E and donepezil for the treatment of mild cognitive impairment. N Engl J Med. 2005;352:2379–88.PubMed CrossRef
    42.Farlow MR. Should the ApoE genotype be a covariate for clinical trials in Alzheimer disease? Alzheimers Res Ther. 2010;2:15.PubMed PubMedCentral CrossRef
    43.Yi L, Wu T, Luo W, Zhou W, Wu J. A non-invasive, rapid method to genotype late-onset Alzheimer’s disease-related apolipoprotein E gene polymorphisms. Neural Regen Res. 2014;9:69–75.PubMed PubMedCentral CrossRef
  • 作者单位:Li Zhong (1)
    Yong-Zhuang Xie (1)
    Tian-Tian Cao (1)
    Zongqi Wang (1)
    Tingting Wang (1)
    Xinxiu Li (1)
    Rui-Chi Shen (2)
    Huaxi Xu (1)
    Guojun Bu (1) (3)
    Xiao-Fen Chen (1)

    1. Fujian Provincial Key Laboratory of Neurodegenerative Disease and Aging Research, Institute of Neuroscience, Medical College, Xiamen University, Xiamen, 361102, China
    2. Fujian Institute of Subtropical Botany, Xiamen, 361006, China
    3. Department of Neuroscience, Mayo Clinic, Jacksonville, FL, 32224, USA
  • 刊物主题:Neurosciences; Neurology; Molecular Medicine;
  • 出版者:BioMed Central
  • ISSN:1750-1326
文摘
Background Apolipoprotein E (ApoE) is a major cholesterol carrier and plays an important role in maintaining lipid homeostasis both in the periphery and brain. Human APOE gene is polymorphic at two single nucleotides (rs429358 and rs7412) resulting in three different alleles (ε2, ε3 and ε4). ApoE isoforms modulate the risk for a variety of vascular and neurodegenerative diseases; thus, APOE genotyping is crucial for predicting disease risk and designing individualized therapy based on APOE genotype.

© 2004-2018 中国地质图书馆版权所有 京ICP备05064691号 京公网安备11010802017129号

地址:北京市海淀区学院路29号 邮编:100083

电话:办公室:(+86 10)66554848;文献借阅、咨询服务、科技查新:66554700