Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384
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  • 作者:Paul D. Leger (1)
    Daniel H. Johnson (1)
    Gregory K. Robbins (2)
    Robert W. Shafer (3)
    David B. Clifford (4)
    Jun Li (5) (6)
    Paul J. McLaren (7) (8)
    David W. Haas (1) (9)
  • 关键词:Peripheral neuropathy ; HIV ; 1 ; Stavudine ; Didanosine ; Genomics
  • 刊名:Journal of NeuroVirology
  • 出版年:2014
  • 出版时间:June 2014
  • 年:2014
  • 卷:20
  • 期:3
  • 页码:304-308
  • 全文大小:
  • 参考文献:1. Blaydon DC, Ishii Y, O’Toole EA, Unsworth HC, Teh MT, Ruschendorf F, Sinclair C, Hopsu-Havu VK, Tidman N, Moss C, Watson R, de Berker D, Wajid M, Christiano AM, Kelsell DP (2006) The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet 38:1245-247 CrossRef
    2. Canter JA, Robbins GK, Selph D, Clifford DB, Kallianpur AR, Shafer R, Levy S, Murdock DG, Ritchie MD, Haas DW, Hulgan T (2010) African mitochondrial DNA subhaplogroups and peripheral neuropathy during antiretroviral therapy. J Infect Dis 201:1703-707 CrossRef
    3. Dalakas MC (2001) Peripheral neuropathy and antiretroviral drugs. J Peripher Nerv Syst : JPNS 6:14-0 CrossRef
    4. Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Megarbane A, Haase G, Levy N (2007) Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet 81:1-6 CrossRef
    5. Hulgan T, Haas DW, Haines JL, Ritchie MD, Robbins GK, Shafer RW, Clifford DB, Kallianpur AR, Summar M, Canter JA (2005) Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study. AIDS 19:1341-349 CrossRef
    6. Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos S, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V (2003) Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 126:590-97 CrossRef
    7. Klebe S, Lossos A, Azzedine H, Mundwiller E, Sheffer R, Gaussen M, Marelli C, Nawara M, Carpentier W, Meyer V, Rastetter A, Martin E, Bouteiller D, Orlando L, Gyapay G, El-Hachimi KH, Zimmerman B, Gamliel M, Misk A, Lerer I, Brice A, Durr A, Stevanin G (2012) KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. Eur J Hum Genet 20:645-49 CrossRef
    8. Lewis W, Copeland WC, Day BJ (2001) Mitochondrial dna depletion, oxidative stress, and mutation: mechanisms of dysfunction from nucleoside reverse transcriptase inhibitors. Lab Invest 81:777-90 CrossRef
    9. Maier LM, Lowe CE, Cooper J, Downes K, Anderson DE, Severson C, Clark PM, Healy B, Walker N, Aubin C, Oksenberg JR, Hauser SL, Compston A, Sawcer S, De Jager PL, Wicker LS, Todd JA, Hafler DA (2009) IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production. PLoS Genet 5:e1000322 CrossRef
    10. Olsen MW, Ley CD, Junker N, Hansen AJ, Lund EL, Kristjansen PE (2006) Angiopoietin-4 inhibits angiogenesis and reduces interstitial fluid pressure. Neoplasia 8:364-72 CrossRef
    11. Pereyra F, Jia X, McLaren PJ, Telenti A, de Bakker PI, Walker BD, Ripke S, Brumme CJ, Pulit SL, Carrington M, Kadie CM, Carlson JM, Heckerman D, Graham RR, Plenge RM, Deeks SG, Gianniny L, Crawford G, Sullivan J, Gonzalez E, Davies L, Camargo A, Moore JM, Beattie N, Gupta S, Crenshaw A, Burtt NP, Guiducci C, Gupta N, Gao X, Qi Y, Yuki Y, Piechocka-Trocha A, Cutrell E, Rosenberg R, Moss KL, Lemay P, O’Leary J, Schaefer T, Verma P, Toth I, Block B, Baker B, Rothchild A, Lian J, Proudfoot J, Alvino DM, Vine S, Addo MM, Allen TM, Altfeld M, Henn MR, Le Gall S, Streeck H, Haas DW, Kuritzkes DR, Robbins GK, Shafer RW, Gulick RM, Shikuma CM, Haubrich R, Riddler S, Sax PE, Daar ES, Ribaudo HJ, Agan B, Agarwal S, Ahern RL, Allen BL, Altidor S, Altschuler EL, Ambardar S, Anastos K, Anderson B, Anderson V, Andrady U, Antoniskis D, Bangsberg D, Barbaro D, Barrie W, Bartczak J, Barton S, Basden P, Basgoz N, Bazner S, Bellos NC, Benson AM, Berger J, Bernard NF, Bernard AM, Birch C, Bodner SJ, Bolan RK, Boudreaux ET, Bradley M, Braun JF, Brndjar JE, Brown SJ, Brown K, Brown ST et al (2010) The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. Science 330:1551-557 CrossRef
    12. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559-75 CrossRef
    13. Riviere JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA (2011) KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet 89:219-30 CrossRef
    14. Robbins GK, De GV, Shafer RW, Smeaton LM, Snyder SW, Pettinelli C, Dube MP, Fischl MA, Pollard RB, Delapenha R, Gedeon L, van der Horst C, Murphy RL, Becker MI, D’Aquila RT, Vella S, Merigan TC, Hirsch MS (2003) Comparison of sequential three-drug regimens as initial therapy for HIV-1 infection. N Engl J Med 349:2293-303 CrossRef
    15. Shin JS, Chung KW, Cho SY, Yun J, Hwang SJ, Kang SH, Cho EM, Kim SM, Choi BO (2008) NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1. J Hum Genet 53:936-40 CrossRef
    16. Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, Lipe HP, Scherer SS, Bird TD, Chance PF (2003) Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology 60:22-6 CrossRef
    17. Timmerman V (2011). Inherited Peripheral Neuropathy Mutation Database; Department of Molecular Genetics, University of Antwerp, Belgium. Accessed August 30, 2013. Available at: http://www.molgen.ua.ac.be/CMTMutations/
  • 作者单位:Paul D. Leger (1)
    Daniel H. Johnson (1)
    Gregory K. Robbins (2)
    Robert W. Shafer (3)
    David B. Clifford (4)
    Jun Li (5) (6)
    Paul J. McLaren (7) (8)
    David W. Haas (1) (9)

    1. Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA
    2. Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA
    3. Department of Medicine, Stanford University, Stanford, CA, USA
    4. Departments of Neurology and Medicine, Washington University School of Medicine, St. Louis, MO, USA
    5. Department of Neurology, Vanderbilt University School of Medicine, Nashville, TN, USA
    6. VA Tennessee Valley Healthcare System, Nashville, TN, USA
    7. école Polytechnique Fédérale de Lusanne, Lausanne, Switzerland
    8. University Hospital of Lausanne, University of Lausanne, Lausanne, Switzerland
    9. Vanderbilt Health—One Hundred Oaks, 719 Thompson Lane, Ste. 47183, Nashville, TN, 37204, USA
  • ISSN:1538-2443
文摘
Stavudine (d4T) was, until recently, one of the most widely prescribed antiretroviral drugs worldwide. While there has been a major shift away from d4T use in resource-limited countries, a large number of patients have previously received (or continue to receive) d4T, and many have developed peripheral neuropathy. The identification of genetic predictors of increased risk might suggest novel therapeutic targets for such patients. In AIDS Clinical Trials Group protocol 384, antiretroviral-na?ve patients were randomized to d4T/didanosine (ddI)- or zidovudine/lamivudine-containing regimens. Data from d4T/ddI recipients were analyzed for genome-wide associations (approximately 1 million genetic loci) with new onset distal sensory peripheral neuropathy. Analyses involved 254 patients (49?% White, 34?% Black, 17?% Hispanic), comprising 90 peripheral neuropathy cases (32 grade 1, 35 grade 2, 23 grade 3) and 164 controls. After correcting for multiple comparisons, no polymorphism was consistently associated with neuropathy among all patients, among White, Black, and Hispanic patients analyzed separately, both in genome-wide analyses (threshold, P-lt;-.0?×-0?) and focused on 46 neuropathy-associated genes (threshold, P-lt;-.5?×-0?). In the latter analyses, the lowest P values were in KIF1A among Whites (rs10199388, P--.4?×-0?), in LITAF among Blacks (rs13333308, P--.0?×-0?), and in NEFL among Hispanics (rs17763685, P--.6?×-0?). Susceptibility to d4T/ddI-associated neuropathy is not explained by a single genetic variant with a marked effect.

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