GABA(A) receptor- and GABA transporter polymorphisms and risk for essential tremor

S Thier, G Kuhlenbäumer, D Lorenz, M Nothnagel, A Nebel, Kaare Christensen, S Schreiber, G Deuschl, S Klebe

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

Background:  Clinical features and animal models of essential tremor (ET) suggest gamma-aminobutyric acid A receptor (GABA(A) R) subunits and GABA transporters as putative candidate genes. Methods:  A total of 503 ET cases and 818 controls were investigated for an association between polymorphisms in 15 GABA(A) R and four GABA transporter genes and ET. Results:  Nine nominally significant tagging SNPs (P values from 4.9 × 10(-2) to 5.2 × 10(-4) ) were found in the hypothesis generation stage. Five SNPs were followed up in a second verification stage but failed to reach significance. (P values from 0.30 to 0.77). Discussion:  In our samples, no evidence of association between GABA(A) R and GABA transporter genes with ET was detected. Further studies are necessary to clarify the role of these genes in ET.
OriginalsprogEngelsk
TidsskriftEuropean Journal of Neurology
Vol/bind18
Udgave nummer8
Sider (fra-til)1098-100
Antal sider3
ISSN1351-5101
DOI
StatusUdgivet - 1. aug. 2011

Fingeraftryk

GABA Plasma Membrane Transport Proteins
Essential Tremor
GABA-A Receptors
GABA Receptors
Single Nucleotide Polymorphism

Citer dette

Thier, S ; Kuhlenbäumer, G ; Lorenz, D ; Nothnagel, M ; Nebel, A ; Christensen, Kaare ; Schreiber, S ; Deuschl, G ; Klebe, S. / GABA(A) receptor- and GABA transporter polymorphisms and risk for essential tremor. I: European Journal of Neurology. 2011 ; Bind 18, Nr. 8. s. 1098-100.
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abstract = "Background:  Clinical features and animal models of essential tremor (ET) suggest gamma-aminobutyric acid A receptor (GABA(A) R) subunits and GABA transporters as putative candidate genes. Methods:  A total of 503 ET cases and 818 controls were investigated for an association between polymorphisms in 15 GABA(A) R and four GABA transporter genes and ET. Results:  Nine nominally significant tagging SNPs (P values from 4.9 × 10(-2) to 5.2 × 10(-4) ) were found in the hypothesis generation stage. Five SNPs were followed up in a second verification stage but failed to reach significance. (P values from 0.30 to 0.77). Discussion:  In our samples, no evidence of association between GABA(A) R and GABA transporter genes with ET was detected. Further studies are necessary to clarify the role of these genes in ET.",
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Thier, S, Kuhlenbäumer, G, Lorenz, D, Nothnagel, M, Nebel, A, Christensen, K, Schreiber, S, Deuschl, G & Klebe, S 2011, 'GABA(A) receptor- and GABA transporter polymorphisms and risk for essential tremor', European Journal of Neurology, bind 18, nr. 8, s. 1098-100. https://doi.org/10.1111/j.1468-1331.2010.03308.x

GABA(A) receptor- and GABA transporter polymorphisms and risk for essential tremor. / Thier, S; Kuhlenbäumer, G; Lorenz, D; Nothnagel, M; Nebel, A; Christensen, Kaare; Schreiber, S; Deuschl, G; Klebe, S.

I: European Journal of Neurology, Bind 18, Nr. 8, 01.08.2011, s. 1098-100.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - GABA(A) receptor- and GABA transporter polymorphisms and risk for essential tremor

AU - Thier, S

AU - Kuhlenbäumer, G

AU - Lorenz, D

AU - Nothnagel, M

AU - Nebel, A

AU - Christensen, Kaare

AU - Schreiber, S

AU - Deuschl, G

AU - Klebe, S

N1 - © 2010 The Author(s). European Journal of Neurology © 2010 EFNS.

PY - 2011/8/1

Y1 - 2011/8/1

N2 - Background:  Clinical features and animal models of essential tremor (ET) suggest gamma-aminobutyric acid A receptor (GABA(A) R) subunits and GABA transporters as putative candidate genes. Methods:  A total of 503 ET cases and 818 controls were investigated for an association between polymorphisms in 15 GABA(A) R and four GABA transporter genes and ET. Results:  Nine nominally significant tagging SNPs (P values from 4.9 × 10(-2) to 5.2 × 10(-4) ) were found in the hypothesis generation stage. Five SNPs were followed up in a second verification stage but failed to reach significance. (P values from 0.30 to 0.77). Discussion:  In our samples, no evidence of association between GABA(A) R and GABA transporter genes with ET was detected. Further studies are necessary to clarify the role of these genes in ET.

AB - Background:  Clinical features and animal models of essential tremor (ET) suggest gamma-aminobutyric acid A receptor (GABA(A) R) subunits and GABA transporters as putative candidate genes. Methods:  A total of 503 ET cases and 818 controls were investigated for an association between polymorphisms in 15 GABA(A) R and four GABA transporter genes and ET. Results:  Nine nominally significant tagging SNPs (P values from 4.9 × 10(-2) to 5.2 × 10(-4) ) were found in the hypothesis generation stage. Five SNPs were followed up in a second verification stage but failed to reach significance. (P values from 0.30 to 0.77). Discussion:  In our samples, no evidence of association between GABA(A) R and GABA transporter genes with ET was detected. Further studies are necessary to clarify the role of these genes in ET.

U2 - 10.1111/j.1468-1331.2010.03308.x

DO - 10.1111/j.1468-1331.2010.03308.x

M3 - Journal article

C2 - 21749575

VL - 18

SP - 1098

EP - 1100

JO - European Journal of Neurology

JF - European Journal of Neurology

SN - 1351-5101

IS - 8

ER -