5 results on '"Price, T. R."'
Search Results
2. Establishing the role of rare coding variants in known Parkinson's disease risk loci
- Author
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Jansen, IE, Gibbs, JR, Nalls, MA, Price, T R, Lubbe, S, van Rooij, J, Uitterlinden, André, Kraaij, Robert, Williams, NM, Brice, A, Hardy, J, Wood, NW, Morris, HR, Gasser, T, Singleton, AB, Heutink, P, Sharma, M, Int Parkinsons Genomics, C, Internal Medicine, Erasmus MC other, Neurology, and Amsterdam Neuroscience - Neurodegeneration
- Subjects
0301 basic medicine ,Risk ,Aging ,Datasets as Topic ,Muscle Proteins ,Genomics ,Genome-wide association study ,Disease ,genetics [Genetic Loci] ,Biology ,genetics [Muscle Proteins] ,Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ,Article ,Mitochondrial Proteins ,03 medical and health sciences ,genetics [Parkinson Disease] ,Humans ,Genetic Predisposition to Disease ,ddc:610 ,genetics [Seminal Plasma Proteins] ,LRRK2 protein, human ,genetics [Genetic Predisposition to Disease] ,Gene ,Exome sequencing ,Genetic association ,Genetics ,SPATA19 protein, human ,General Neuroscience ,Seminal Plasma Proteins ,Genetic Variation ,Membrane Proteins ,Parkinson Disease ,LRRK2 ,genetics [Genetic Variation] ,genetics [Membrane Proteins] ,030104 developmental biology ,Genetic Loci ,genetics [Leucine-Rich Repeat Serine-Threonine Protein Kinase-2] ,genetics [Mitochondrial Proteins] ,GENX-3414 protein, human ,Neurology (clinical) ,Geriatrics and Gerontology ,Developmental Biology ,Common disease-common variant ,Genome-Wide Association Study - Abstract
Many common genetic factors have been identified to contribute to Parkinson's disease (PD) susceptibility, improving our understanding of the related underlying biological mechanisms. The involvement of rarer variants in these loci has been poorly studied. Using International Parkinson's Disease Genomics Consortium data sets, we performed a comprehensive study to determine the impact of rare variants in 23 previously published genome-wide association studies (GWAS) loci in PD. We applied Prix fixe to select the putative causal genes underneath the GWAS peaks, which was based on underlying functional similarities. The Sequence Kernel Association Test was used to analyze the joint effect of rare, common, or both types of variants on PD susceptibility. All genes were tested simultaneously as a gene set and each gene individually. We observed a moderate association of common variants, confirming the involvement of the known PD risk loci within our genetic data sets. Focusing on rare variants, we identified additional association signals for LRRK2, STBD1, and SPATA19. Our study suggests an involvement of rare variants within several putatively causal genes underneath previously identified PD GWAS peaks.
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- 2017
3. NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
- Author
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Blauwendraat, C., Faghri, F., Pihlstrom, L., Geiger, J. T., Elbaz, A., Lesage, S., Corvol, J. -C., May, P., Nicolas, A., Abramzon, Y., Murphy, N. A., Gibbs, J. R., Ryten, M., Ferrari, R., Bras, J., Guerreiro, R., Williams, J., Sims, R., Lubbe, S., Hernandez, D. G., Mok, K. Y., Robak, L., Campbell, R. H., Rogaeva, E., Traynor, B. J., Chia, R., Chung, S. J., Hardy, J. A., Brice, A., Wood, N. W., Houlden, H., Shulman, J. M., Morris, H. R., Gasser, T., Kruger, R., Heutink, P., Sharma, M., Simon-Sanchez, J., Nalls, M. A., Singleton, A. B., Scholz, S. W., Noyce, A. J., Giri, A., Oehmig, A., Tucci, A., Schulte, C., Cookson, M. R., Kia, D., Danjou, F., Charlesworth, G., Plun-Favreau, H., Holmans, P., Jansen, I., Hardy, J., Bras, J. M., Quinn, J., Botia, J. A., Billingsley, K., R'Bibo, L., Lungu, C., Martinez, M., Escott-Price, V., Mencacci, N. E., Topley, Lewis, Denny, P., Rizzu, P., Taba, P., Lovering, R., Ogalla, R. D., Foulger, R., Finkbeiner, S., Sveinbjornsdottir, S., Scholz, S., Koks, S., Foltynie, T., Price, T. R., Sheerin, U. -M., Williams, N., Reed, X., Wang, L., Brockmann, K., Oertel, W., Klein, C., Mohamed, F., Malard, L., Corti, O., Drouet, V., Goldwurm, S., Tesei, S., Canesi, M., Valente, E. M., Petrucci, S., Ginevrino, M., Toft, M., Aasly, J., Henriksen, S. P., Saetehaug, C., Orr-Urtreger, A., Giladi, N., Ferreira, J., Guedes, L. C., Bouca-Machado, R., Coelho, M., Rosa, M. M., Tolosa, E., Fernandez-Santiago, R., Ezquerra, M., Marti, M. J., Glaab, E., Balling, R., and Chung, S. -J.
- Subjects
0301 basic medicine ,Aging ,methods [Genome-Wide Association Study] ,0302 clinical medicine ,Corticobasal degeneration ,neurodegenerative diseases ,humans ,risk ,high-throughput screening assays ,education.field_of_study ,General Neuroscience ,neurodegeneration ,genetics [Genetic Variation] ,3. Good health ,Neurochip ,alleles ,methods [Genotyping Techniques] ,Frontotemporal dementia ,Risk ,Population ,methods [High-Throughput Screening Assays] ,Computational biology ,Genetic screening ,genotyping ,NeuroChip ,NeuroX ,apolipoproteins E ,genetic variation ,genome-wide association study ,genotyping techniques ,Article ,Progressive supranuclear palsy ,03 medical and health sciences ,Apolipoproteins E ,medicine ,Humans ,Dementia ,ddc:610 ,education ,Genotyping ,Alleles ,business.industry ,medicine.disease ,030104 developmental biology ,genetics [Neurodegenerative Diseases] ,genetics [Apolipoproteins E] ,Neurology (clinical) ,Geriatrics and Gerontology ,business ,Neuroscience ,030217 neurology & neurosurgery ,Imputation (genetics) ,Developmental Biology - Abstract
Genetics has proven to be a powerful approach in neurodegenerative diseases research, resulting in the identification of numerous causal and risk variants. Previously, we introduced the NeuroX Illumina genotyping array, a fast and efficient genotyping platform designed for the investigation of genetic variation in neurodegenerative diseases. Here, we present its updated version, named NeuroChip. The NeuroChip is a low-cost, custom-designed array containing a tagging variant backbone of about 306,670 variants complemented with a manually curated custom content comprised of 179,467 variants implicated in diverse neurological diseases, including Alzheimer's disease, Parkinson's disease, Lewy body dementia, amyotrophic lateral sclerosis, frontotemporal dementia, progressive supranuclear palsy, corticobasal degeneration, and multiple system atrophy. The tagging backbone was chosen because of the low cost and good genome-wide resolution; the custom content can be combined with other backbones, like population or drug development arrays. Using the NeuroChip, we can accurately identify rare variants and impute over 5.3 million common SNPs from the latest release of the Haplotype Reference Consortium. In summary, we describe the design and usage of the NeuroChip array and show its capability for detecting rare pathogenic variants in numerous neurodegenerative diseases. The NeuroChip has a more comprehensive and improved content, which makes it a reliable, high-throughput, cost-effective screening tool for genetic research and molecular diagnostics in neurodegenerative diseases.
- Published
- 2017
4. Brain infarction severity differs according to cardiac or arterial embolic source
- Author
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Timsit, S. G., Sacco, R. L., Mohr, J. P., Foulkes, M. A., Tatemichi, T. K., Wolf, P. A., Price, T. R., and Daniel Hier
5. Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment
- Author
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Adolfo Correa, Dragana Vuckovic, Chuang Ming Li, Sheila R. Pratt, Vilmundur Gudnason, Robert C. Kaplan, Massimiliano Cocca, Giorgia Girotto, Frances M K Williams, Nona Sotoodehnia, Christopher Spankovich, T. Ryan Price, Charles E. Bishop, Johanna Jakobsdottir, W. T. Longstreth, Howard J. Hoffman, Karen Valle, Mark W. Christiansen, Erik Fransen, Helena R R Wells, John M. Schweinfurth, André G. Uitterlinden, Mohammad Arfan Ikram, Guy Van Camp, Daniel S. Evans, Paolo Gasparini, Linda Broer, Gregory J. Tranah, Marco Brumat, Andries Paul Nagtegaal, Mike A. Nalls, Mary Rachel Stimson, Sudha Seshadri, Gudny Eiriksdottir, Karen J. Cruickshanks, Yan Gao, Nancy L. Heard-Costa, Nuno R. Zilhão, James G. Wilson, Nathan Pankratz, André Goedegebure, Claire J. Steves, Otorhinolaryngology and Head and Neck Surgery, Internal Medicine, Epidemiology, Nagtegaal, A. P., Broer, L., Zilhao, N. R., Jakobsdottir, J., Bishop, C. E., Brumat, M., Christiansen, M. W., Cocca, M., Gao, Y., Heard-Costa, N. L., Evans, D. S., Pankratz, N., Pratt, S. R., Price, T. R., Spankovich, C., Stimson, M. R., Valle, K., Vuckovic, D., Wells, H., Eiriksdottir, G., Fransen, E., Ikram, M. A., Li, C. -M., Longstreth, W. T., Steves, C., Van Camp, G., Correa, A., Cruickshanks, K. J., Gasparini, P., Girotto, G., Kaplan, R. C., Nalls, M., Schweinfurth, J. M., Seshadri, S., Sotoodehnia, N., Tranah, G. J., Uitterlinden, A. G., Wilson, J. G., Gudnason, V., Hoffman, H. J., Williams, F. M. K., and Goedegebure, A.
- Subjects
0301 basic medicine ,Male ,Aging ,Auditory Pathways ,Genome-wide association study ,Audiology ,Genome-wide association studies ,Mice ,0302 clinical medicine ,Genetics research ,GWAS ,age-related hearing lo ,Multidisciplinary ,Middle Aged ,Phenotype ,age-related hearing loss ,Meta-analysis ,Medicine ,Female ,medicine.symptom ,medicine.medical_specialty ,Hearing loss ,Science ,Single-nucleotide polymorphism ,Biology ,Article ,ARHL ,03 medical and health sciences ,medicine ,otorhinolaryngologic diseases ,SNP ,Animals ,Humans ,Genetic Predisposition to Disease ,Hearing Loss ,Gene ,Reproducibility of Results ,Molecular Sequence Annotation ,Genetic architecture ,030104 developmental biology ,Gene Expression Regulation ,Genetic Loci ,Human medicine ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
Previous research has shown that genes play a substantial role in determining a person’s susceptibility to age-related hearing impairment. The existing studies on this subject have different results, which may be caused by difficulties in determining the phenotype or the limited number of participants involved. Here, we have gathered the largest sample to date (discovery n = 9,675; replication n = 10,963; validation n = 356,141), and examined phenotypes that represented low/mid and high frequency hearing loss on the pure tone audiogram. We identified 7 loci that were either replicated and/or validated, of which 5 loci are novel in hearing. Especially the ILDR1 gene is a high profile candidate, as it contains our top SNP, is a known hearing loss gene, has been linked to age-related hearing impairment before, and in addition is preferentially expressed within hair cells of the inner ear. By verifying all previously published SNPs, we can present a paper that combines all new and existing findings to date, giving a complete overview of the genetic architecture of age-related hearing impairment. This is of importance as age-related hearing impairment is highly prevalent in our ageing society and represents a large socio-economic burden.
- Published
- 2019
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