No association between polymorphisms in the glutamate transporterSLC1A2and Parkinson's disease

التفاصيل البيبلوغرافية
العنوان: No association between polymorphisms in the glutamate transporterSLC1A2and Parkinson's disease
المؤلفون: Silke Appenzeller, Christine Klein, Andrew B. Singleton, Karin Srulijes, Thomas Gasser, Meike Kasten, Günther Deuschl, Johann Hagenah, Daniela Berg, Claudia Schulte, Sandra Thier, Manuela Pendziwiat, Gregor Kuhlenbäumer, Frank Papengut, Franziska Hopfner
المصدر: Movement disorders 28(9), 1305-1306 (2013). doi:10.1002/mds.25330
بيانات النشر: Wiley, 2013.
سنة النشر: 2013
مصطلحات موضوعية: genetics [Glutamate Plasma Membrane Transport Proteins], Male, Synaptic cleft, Essential Tremor, Population, Single-nucleotide polymorphism, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, Article, Glutamate Plasma Membrane Transport Proteins, genetics [Parkinson Disease], Germany, Humans, SNP, Glutamate reuptake, ddc:610, education, Allele frequency, SLC1A2 protein, human, Genetic Association Studies, LINGO1, Genetics, education.field_of_study, Parkinson Disease, United States, genetics [Essential Tremor], Excitatory Amino Acid Transporter 2, Neurology, genetics [Polymorphism, Single Nucleotide], Female, Neurology (clinical)
الوصف: Essential tremor (ET) and Parkinson disease (PD) are clearly distinct disorders. However, there is considerable clinical and pathophysiological overlap.1 ET patients are at an approximately fourfold risk to develop PD compared to population controls. Both, ET and PD, have a genetic component. For PD numerous monogenic forms are known and genome-wide-association-studies (GWAS) in sporadic patients have uncovered a number of disease associated genetic variants. For ET only two GWAS studies have been performed up to date.2, 3 In one of them we discovered an association between variants in the major glutamate reuptake transporter of the brain (EAAT2 encoded by the SLC1A gene) and ET.3 The strongest association was found for the intronic single nucleotide polymorphism (SNP) rs3794087. To investigate whether SNPs in or around the SLC1A2 gene are also associated with PD we undertook a two-part study. The study was approved by the local ethics committees and written informed consent was obtained from all participants. Firstly, we investigated the association between our ET lead SNP rs3794087 and PD in three previously described large German PD case/control samples (1798 PD patients, 1482 controls, a detailed description of the samples can be found in reference 4). Genotyping was performed using a TaqMan® assay. Association was assessed using PLINK.5 We calculated Hardy-Weinberg equilibrium (HWE, p-exclusion 95% and the SNP was in HWE. No significant p-values were obtained for rs3794087, neither in the complete sample (p=0.775), nor in the subsamples from Kiel (p=0.623), Lubeck (p=0.998) or Tubingen (p=0.766)(Table 1). Secondly, we analysed all 45 SNPs in the region of the SLC1A gene typed in the first stage sample of a large GWAS performed for PD (1713 PD patients, 3978 controls, a detailed description of the samples can be found in reference 6). All SNPs were in HWE. Two SNPs (rs12294045, p=0.034; rs3847618, p=0.035) yielded nominally significant p-values. Both p-values do not withstand Bonferroni correction for multiple testing (Bonferroni corrected alpha-level p
تدمد: 0885-3185
DOI: 10.1002/mds.25330
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e8a58cb02c9e3d85dca0654a8df1845
https://doi.org/10.1002/mds.25330
Rights: OPEN
رقم الانضمام: edsair.doi.dedup.....2e8a58cb02c9e3d85dca0654a8df1845
قاعدة البيانات: OpenAIRE
الوصف
تدمد:08853185
DOI:10.1002/mds.25330