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3. Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities

Author

Price, K.M., Wigg, K.G., Eising, E., Feng, Y, Blokland, K., Wilkinson, M., Kerr, E.N., Guger, S.L., Abbondanza, F., Allegrini, A.G., Andlauer, T.F.M., Bates, T.C., Bernard, M., Bonte, M., Boomsma, D.I., Bourgeron, T., Brandeis, D., Carreiras, M., Ceroni, F., Csépe, V., Dale, P.S., DeFries, J.C., Jong, P.F. de, Démonet, J.F., Zeeuw, E.L. de, Franken, M.-C.J., Francks, C., Gerritse, M.L., Gialluisi, A., Gordon, S.D., Gruen, J.R., Hayiou-Thomas, M.E., Hernández-Cabrera, J., Hottenga, J.-J., Hulme, C., Jansen, P.R., Kere, J., Koomar, T., Landerl, K., Leonard, G.T., Liao, Z., Luciano, M., Lyytinen, H., Martin, N.G., Martinelli, A., Maurer, U., Michaelson, J.J., Mirza-Schreiber, N., Moll, K., Monaco, A.P., Morgan, A.T., Müller-Myhsok, B., Newbury, D.F., Nöthen, M.M., Olson, R.K., Paracchini, S., Paus, T., Pausova, Z., Pennell, C.E., Pennington, B.F., Plomin, R.J., Ramus, F., Reilly, S., Richer, L., Rimfeld, K., Schulte-Körne, G., Shapland, C.Y., Simpson, N.H., Smith, S.D., Snowling, M.J., St Pourcain, B., Stein, J.F., Talcott, J.B., Tiemeier, H., Tomblin, J.B., Truong, D.T., Bergen, E. van, Schroeff, M.P. van der, Donkelaar, M.M.J. van, Verhoef, E., Wang, C.A., Watkins, K.E., Whitehouse, A.J.O., Willcutt, E.G., Wright, M.J., Zhu, G., Fisher, S.E., Lovett, M.W., Strug, L.J., Barr, C.L., University of St Andrews. School of Medicine, University of St Andrews. Centre for Biophotonics, University of St Andrews. Biomedical Sciences Research Complex, University of St Andrews. Institute of Behavioural and Neural Sciences, University of St Andrews. St Andrews Bioinformatics Unit, University of St Andrews. Cellular Medicine Division, STEMM - Stem Cells and Metabolism Research Program, Juha Kere / Principal Investigator, Research Programs Unit, University of Helsinki, Consortium, Quantitative Trait Working Group of the GenLang, European Commission, Otorhinolaryngology and Head and Neck Surgery, Child and Adolescent Psychiatry / Psychology, RS: FPN CN 7, Language, Biological Psychology, Amsterdam Reproduction & Development, APH - Mental Health, APH - Methodology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, LEARN! - Educational neuroscience, learning and development, and Human genetics

Subjects
Neuroinformatics, single nucleotide, Candidate gene, Autism Spectrum Disorder, Developmental dyslexia, autism spectrum disorder, QH426 Genetics, Polymorphism, Single Nucleotide, Neuronal migration, 3124 Neurology and psychiatry, polymorphism, Dyslexia, Cellular and Molecular Neuroscience, All institutes and research themes of the Radboud University Medical Center, problem solving, SDG 3 - Good Health and Well-being, dyslexia, Humans, Kiaa0319, Family, humans, Children, QH426, Problem Solving, Biological Psychiatry, MCC, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], genome-wide association study, Dyx1c1, Plasma-membrane, 3rd-DAS, Psychiatry and Mental health, Susceptibility, RC0321, SDG 4 - Quality Education, RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry, Genome-Wide Association Study, Knockout mice
Abstract

Reading Disability (RD) is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies (GWAS). In a previous GWAS for word reading (Price, 2020), we observed that top single-nucleotide polymorphisms (SNPs) were located near to or in genes involved in neuronal migration/axon guidance (NM/AG) or loci implicated in autism spectrum disorder (ASD). A prominent theory of RD etiology posits that it involves disturbed neuronal migration, while potential links between RD-ASD have not been extensively investigated. To improve power to identify associated loci, we up-weighted variants involved in NM/AG or ASD, separately, and performed a new Hypothesis-Driven (HD)–GWAS. The approach was applied to a Toronto RD sample and a meta-analysis of the GenLang Consortium. For the Toronto sample (n = 624), no SNPs reached significance; however, by gene-set analysis, the joint contribution of ASD-related genes passed the threshold (p~1.45 × 10–2, threshold = 2.5 × 10–2). For the GenLang Cohort (n = 26,558), SNPs in DOCK7 and CDH4 showed significant association for the NM/AG hypothesis (sFDR q = 1.02 × 10–2). To make the GenLang dataset more similar to Toronto, we repeated the analysis restricting to samples selected for reading/language deficits (n = 4152). In this GenLang selected subset, we found significant association for a locus intergenic between BTG3-C21orf91 for both hypotheses (sFDR q < 9.00 × 10–4). This study contributes candidate loci to the genetics of word reading. Data also suggest that, although different variants may be involved, alleles implicated in ASD risk may be found in the same genes as those implicated in word reading. This finding is limited to the Toronto sample suggesting that ascertainment influences genetic associations., Translational Psychiatry, 12 (1), ISSN:2158-3188

Published
2022
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8. Polymorphisms in the gene encoding thymus-specific serine protease in the extended HLA complex: a potential candidate gene for autoimmune and HLA-associated diseases.

Author

Lie, B.A., Akselsen, H.E., Bowlus, C.L., Gruen, J.R., Thorsby, E., and Undlien, D.E.

Subjects
GENETIC polymorphisms, SERINE proteinases, HLA histocompatibility antigens
Abstract

Positive selection plays a role, together with negative selection, in the prevention of autoimmunity. Thymus-specific serine protease is highly expressed in the thymus and is believed to be involved in positive selection of T cells. The gene encoding thymus-specific serine protease (PRSS16) maps to the extended HLA complex, which harbours several genes predisposing for autoimmune diseases. Here we report the results of scanning the genetic region containing PRSS16 for polymorphisms. Twenty-two polymorphisms were identified, including one missense polymorphism, one deletion leading to elimination of five amino acids, as weft as several SNPs in the promoter region. [ABSTRACT FROM AUTHOR]

Published
2002
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