Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor.
Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and kinetic tremor and motor incoordination similar to human ET). To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping. The frequencies of the GABBR1 genotypes and allelic variants of the studied polymorphisms did not differ significantly between patients with ET and controls, and were unrelated with the age at onset of tremor, gender, localization of tremor, and response of tremor to ethanol. These data suggest that the single nucleotide polymorphisms studied in the GABBR genes are not related to the risk for ET.
García-Martín
Elena
E
Department of Biochemistry and Molecular Biology, University of Extremadura, Badajoz, Spain.
Martínez
Carmen
C
Alonso-Navarro
Hortensia
H
Benito-León
Julián
J
Lorenzo-Betancor
Oswaldo
O
Pastor
Pau
P
Puertas
Inmaculada
I
Rubio
Lluisa
L
López-Alburquerque
Tomás
T
Agúndez
José A G
JA
Jiménez-Jiménez
Félix Javier
FJ
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D020329:Essential Tremor / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011963:Receptors, GABA-A / Q000235:genetics*; D018080:Receptors, GABA-B / Q000235:genetics*; D012307:Risk Factors; D055815:Young Adult
C485503:GABBR2 protein, human; C547868:GABRR1 protein, human; C547870:GABRR3 protein, human; D011963:Receptors, GABA-A; D018080:Receptors, GABA-B
Eur J Neurosci. 2005 Feb;21(3):692-700
15733087
J Neurochem. 1998 Mar;70(3):899-907
9489708
Eur J Hum Genet. 2010 Jul;18(7):838-43
20372186
J Physiol. 2006 Nov 15;577(Pt 1):127-39
16945976
Mov Disord. 2000 Jul;15(4):678-82
10928578
Arch Neurol. 1987 Sep;44(9):905-6
3619708
Mov Disord. 1998 May;13(3):465-7
9613738
J Neural Transm (Vienna). 1996;103(5):555-60
8811501
Eur J Pharmacol. 2009 Aug 15;616(1-3):73-80
19497322
J Clin Invest. 2005 Mar;115(3):774-9
15765150
Pharmacol Biochem Behav. 1991 Jun;39(2):345-9
1946576
Eur J Hum Genet. 2009 Jun;17(6):766-73
19092771
Arch Neurol. 1999 Apr;56(4):475-80
10199338
Mov Disord. 1997 Nov;12(6):859-64
9399207
Mov Disord. 2010 Apr 30;25(6):717-23
20310002
Neurogenetics. 2010 Oct;11(4):401-8
20369371
Neurosci Lett. 2006 Jun 19;401(1-2):16-9
16530959
Lancet Neurol. 2005 Feb;4(2):100-10
15664542
Mov Disord. 2007 Aug 15;22(11):1660-3
17580330
Clin Chem. 2008 Aug;54(8):1390-4
18664443
Am J Hum Genet. 2001 Apr;68(4):978-89
11254454
Neurology. 1995 Apr;45(4):645-8
7723949
Nat Genet. 2009 Mar;41(3):277-9
19182806
Br J Clin Pharmacol. 2001 Nov;52(5):489-99
11736857
Lancet Neurol. 2010 Jun;9(6):613-22
20451458
Parkinsonism Relat Disord. 2010 Feb;16(2):109-11
19720553
Evol Bioinform Online. 2007 Feb 23;1:47-50
19325852
Eur Neurol. 2007;58(2):106-13
17570916
Mov Disord. 1998;13 Suppl 3:2-23
9827589
Mov Disord. 2009 Oct 15;24(13):1910-5
19645064
Mov Disord. 2003 Apr;18(4):389-94
12671944
Parkinsonism Relat Disord. 1997 Dec;3(4):187-90
18591074
Nat Genet. 1997 Sep;17(1):84-7
9288103
Brain. 2006 Sep;129(Pt 9):2318-31
16702189
Neurology. 2009 Oct 6;73(14):1161-2
19805735
Age Ageing. 1997 Mar;26(2):147-51
9177672
Rev Neurol. 2003 Feb 15-28;36(4):322-6
12599126
Pharmacol Rev. 2008 Sep;60(3):243-60
18790874