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Titolo:
Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease
Autore:
Martin, ER; Scott, WK; Nance, MA; Watts, RL; Hubble, JP; Koller, WC; Lyons, K; Pahwa, R; Stern, MB; Colcher, A; Hiner, BC; Jankovic, J; Ondo, WG; Allen, FH; Goetz, CG; Small, GW; Masterman, D; Mastaglia, F; Laing, NG; Stajich, JM; Ribble, RC; Booze, MW; Rogala, A; Hauser, MA; Zhang, FY; Gibson, RA; Middleton, LT; Roses, AD; Haines, JL; Scott, BL; Pericak-Vance, MA; Vance, JM;
Indirizzi:
Duke Univ, Med Ctr, Ctr Human Genet, Inst Genome Sci & Policy, Durham, NC 27710 USA Duke Univ Durham NC USA 27710 t Genome Sci & Policy, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Med, Durham, NC 27710 USA Duke Univ Durham NC USA 27710 iv, Med Ctr, Dept Med, Durham, NC 27710 USA Struthers Parkinson Ctr, Golden Valley, MN USA Struthers Parkinson Ctr Golden Valley MN USA Ctr, Golden Valley, MN USA Emory Univ, Sch Med, Dept Neurol, Atlanta, GA 30322 USA Emory Univ Atlanta GA USA 30322 h Med, Dept Neurol, Atlanta, GA 30322 USA Ohio State Univ, Dept Neurol, Columbus, OH 43210 USA Ohio State Univ Columbus OH USA 43210 Dept Neurol, Columbus, OH 43210 USA Univ Miami, Sch Med, Dept Neurol, Miami, FL USA Univ Miami Miami FL USAUniv Miami, Sch Med, Dept Neurol, Miami, FL USA Univ Kansas, Med Ctr, Dept Neurol, Kansas City, KS 66103 USA Univ Kansas Kansas City KS USA 66103 pt Neurol, Kansas City, KS 66103 USA Univ Penn Hlth Syst, Dept Neurol, Philadelphia, PA USA Univ Penn Hlth Syst Philadelphia PA USA ept Neurol, Philadelphia, PA USA Marshfield Clin Fdn Med Res & Educ, Dept Neurol, Marshfield, WI USA Marshfield Clin Fdn Med Res & Educ Marshfield WI USA Marshfield, WI USA Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 , Dept Neurol, Houston, TX 77030 USA Carolina Neurol Clin, Charlotte, NC USA Carolina Neurol Clin Charlotte NCUSA ina Neurol Clin, Charlotte, NC USA Rush Presbyterian St Lukes Med Ctr, Dept Neurol Sci, Chicago, IL USA Rush Presbyterian St Lukes Med Ctr Chicago IL USA l Sci, Chicago, IL USA Univ Calif Los Angeles, Dept Psychiat & Behav Sci, Los Angeles, CA 90024 USA Univ Calif Los Angeles Los Angeles CA USA 90024 Los Angeles, CA 90024 USA Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90024 USA Univ Calif Los Angeles Los Angeles CA USA 90024 Los Angeles, CA 90024 USA Univ Western Australia, Ctr Neuromuscular & Neurol Disorders, Perth, WA 6009, Australia Univ Western Australia Perth WA Australia 6009 Perth, WA 6009, Australia GlaxoSmithKline Res & Dev, Greenford, Middx, England GlaxoSmithKline Res &Dev Greenford Middx England enford, Middx, England GlaxoSmithKline Res & Dev, Res Triangle Pk, NC USA GlaxoSmithKline Res & Dev Res Triangle Pk NC USA Res Triangle Pk, NC USA Vanderbilt Univ, Med Ctr, Program Human Genet, Nashville, TN USA Vanderbilt Univ Nashville TN USA Program Human Genet, Nashville, TN USA
Titolo Testata:
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
fascicolo: 18, volume: 286, anno: 2001,
pagine: 2245 - 2250
SICI:
0098-7484(20011114)286:18<2245:AOSPOT>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROGRESSIVE SUPRANUCLEAR PALSY; CLINICAL-DIAGNOSIS; LINKAGE; MUTATIONS; DISEQUILIBRIUM; TRANSMISSION; HAPLOTYPE; ACCURACY; DEMENTIA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Vance, JM Duke Univ, Med Ctr, Ctr Human Genet, Inst Genome Sci & Policy, Box 2903, Durham, NC 27710 USA Duke Univ Box 2903 Durham NC USA 27710 903, Durham, NC 27710 USA
Citazione:
E.R. Martin et al., "Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease", J AM MED A, 286(18), 2001, pp. 2245-2250

Abstract

Context The human tau gene, which promotes assembly of neuronal microtubules, has been associated with several rare neurologic diseases that clinically include parkinsonian features. We recently observed linkage in idiopathic Parkinson disease (PD) to a region on chromosome 17q21 that contains the tau gene. These factors make tau a good candidate for investigation as a susceptibility gene for idiopathic PD, the most common form of the disease. Objective To: investigate whether the tau gene is involved in idiopathic PD. Design, Setting, and Participants Among a sample of 1056 individuals from 235 families selected from 13 clinical centers in the United States and Australia and from a family ascertainment core center, we tested 5 single-nucleotide polymorphisms (SNPs) within the tau gene for association with PD, using family-based tests of association. Both affected (n=426) and unaffected(n=579) family members were included; 51 individuals had unclear PD status. Analyses were conducted to test individual SNPs and SNP haplotypes withinthe tau gene. Main Outcome Measure Family-based tests of association, calculated using asymptotic distributions. Results Analysis of association between the SNPs and PD yielded significant evidence of association for 3 of the 5 SNPs tested: SNP 3, P=.03; SNP 9i,P=.04; and SNP 11, P=.04. The 2 other SNPs did not show evidence of significant association (SNP 9ii, P=.11, and SNP 9iii, P=.87). Strong evidence ofassociation was found with haplotype analysis, with a positive associationwith one haplotype (P=.009) and a negative association with another haplotype (P=.007). Substantial linkage disequilibrium (P<.001) was detected between 4 of the 5 SNPs (SN Ps 3, 9i, 9ii, and 11). Conclusions This integrated approach of genetic linkage and positional association analyses implicates tau as a susceptibility gene for idiopathic PD.

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Documento generato il 25/01/20 alle ore 07:30:39