Source:http://linkedlifedata.com/resource/pubmed/id/21422964
Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
7
|
pubmed:dateCreated |
2011-6-15
|
pubmed:abstractText |
Some clinical and experimental data suggest a possible role of ?-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET). We studied the allelic and genotype frequencies of the single nucleotide polymorphisms, such as GABRA4-L26M (Leu26Met, rs2229940), GABRE-S102A (Ser26Ala, rs1139916), and GABRQ-I478F (Ile26Phe, rs3810651), in 200 patients with familial ET and 250 healthy controls using TaqMan genotyping. GABRA4-L26M, GABRE-S102A, and GABRQ-I478F genotype and allelic frequencies did not differ significantly between patients with ET and controls, and were unrelated to the age at onset of tremor or sex. The GABRQ-478F allele seemed to be related to improvement of tremor with ethanol use among men (odds ratio=2.32, 95% confidence interval=0.26-4.3, P=0.007, Pc=0.021). The results of this study suggest that the single nucleotide polymorphisms studied in the GABRA4, GABRE, and GABRQ genes are not related to the risk for familial ET.
|
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Jul
|
pubmed:issn |
1744-6880
|
pubmed:author |
pubmed-author:AgúndezJosé A GJA,
pubmed-author:Alonso-NavarroHortensiaH,
pubmed-author:Benito-LeónJuliánJ,
pubmed-author:García-MartínElenaE,
pubmed-author:Jiménez-JiménezFélix JavierFJ,
pubmed-author:López-AlburquerqueTomásT,
pubmed-author:Lorenzo-BetancorOswaldoO,
pubmed-author:MartínezCarmenC,
pubmed-author:PastorPauP,
pubmed-author:PuertasInmaculadaI,
pubmed-author:RubioLluisaL
|
pubmed:issnType |
Electronic
|
pubmed:volume |
21
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
436-9
|
pubmed:meshHeading |
pubmed-meshheading:21422964-Aged,
pubmed-meshheading:21422964-Aged, 80 and over,
pubmed-meshheading:21422964-Essential Tremor,
pubmed-meshheading:21422964-Female,
pubmed-meshheading:21422964-Gene Frequency,
pubmed-meshheading:21422964-Genotype,
pubmed-meshheading:21422964-Humans,
pubmed-meshheading:21422964-Male,
pubmed-meshheading:21422964-Middle Aged,
pubmed-meshheading:21422964-Polymorphism, Genetic,
pubmed-meshheading:21422964-Polymorphism, Single Nucleotide,
pubmed-meshheading:21422964-Receptors, GABA-A,
pubmed-meshheading:21422964-Risk Factors,
pubmed-meshheading:21422964-gamma-Aminobutyric Acid
|
pubmed:year |
2011
|
pubmed:articleTitle |
Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor.
|
pubmed:affiliation |
Departments of Biochemistry and Molecular Biology, University of Extremadura, Badajoz.
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|