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3. Author Correction: Discovery of 42 genome-wide significant loci associated with dyslexia

Author

Doust, C., Fontanillas, P., Eising, E., Gordon, S.D., Wang, Z., Alagoz, G., Molz, B., Lang, C., Pourcain, B.S., Francks, C., Marioni, R.E., Zhao, J, Paracchini, S., Talcott, J.B., Monaco, A.P., Stein, J.F., Gruen, J.R., Olson, R.K., Willcutt, E.G., DeFries, J.C., Pennington, B.F., Smith, S.D., Wright, M.J., Martin, N.G., Auton, A., Bates, T.C., Fisher, S.E., Luciano, M., Doust, C., Fontanillas, P., Eising, E., Gordon, S.D., Wang, Z., Alagoz, G., Molz, B., Lang, C., Pourcain, B.S., Francks, C., Marioni, R.E., Zhao, J, Paracchini, S., Talcott, J.B., Monaco, A.P., Stein, J.F., Gruen, J.R., Olson, R.K., Willcutt, E.G., DeFries, J.C., Pennington, B.F., Smith, S.D., Wright, M.J., Martin, N.G., Auton, A., Bates, T.C., Fisher, S.E., and Luciano, M.

Abstract

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Published
2023

4. 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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5. Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people

Author

Eising, E., Mirza-Schreiber, N., Zeeuw, E.L. de, Wang, C.A., Truong, D.T., Allegrini, A.G., Shapland, C.Y., Zhu, G., Wigg, K.G., Gerritse, M.L., Molz, B., Alagöz, G., Gialluisi, A., Abbondanza, F., Rimfeld, K., Donkelaar, M.M.J. van, Liao, Z., Jansen, P.R., Andlauer, T.F.M., Bates, T.C., Bernard, M., Blokland, K., Bonte, M., Børglum, A.D., Bourgeron, T., Brandeis, D., Ceroni, F., Csépe, V., Dale, P.S., Jong, P.F. de, DeFries, J.C., Démonet, J.F., Demontis, D., Feng, Yu, Gordon, S.D.S., Guger, S.L., Hayiou-Thomas, M.E., Hernández-Cabrera, J.A., Hottenga, J.J., Hulme, C., Kere, J., Kerr, E.N., Koomar, T., Landerl, K., Leonard, G.T., Lovett, M.W., Lyytinen, H., Martin, N.G., Martinelli, A., Maurer, U., Michaelson, J.J., Moll, K., Monaco, A.P., Morgan, A.T., Nöthen, M.M., Pausova, Z., Pennell, C.E., Pennington, B.F., Price, K.M., Rajagopal, V.M., Ramus, F., Richer, L., Simpson, N.H., Smith, S.D., Snowling, M.J., Stein, J., Strug, L.J., Talcott, J.B., Tiemeier, H., Schroeff, M.P. van der, Verhoef, E., Watkins, K.E., Wilkinson, M., Wright, M.J., Barr, C.L., Boomsma, D.I., Carreiras, M., Franken, M.J., Gruen, J.R., Luciano, M., Müller-Myhsok, B., Newbury, D.F., Olson, R.K., Paracchini, S., Paus, T., Plomin, R., Reilly, S., Schulte-Körne, G., Tomblin, J.B., Bergen, E. van, Whitehouse, A.J.O., Willcutt, E.G., Pourcain, B. St, Francks, C., Fisher, S.E., St Pourcain, B., Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Laboratoire de sciences cognitives et psycholinguistique (LSCP), Département d'Etudes Cognitives - ENS Paris (DEC), École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École des hautes études en sciences sociales (EHESS)-Centre National de la Recherche Scientifique (CNRS), Human genetics, APH - Aging & Later Life, APH - Mental Health, Biological Psychology, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Amsterdam Reproduction & Development, APH - Methodology, LEARN! - Educational neuroscience, learning and development, Child and Adolescent Psychiatry / Psychology, Otorhinolaryngology and Head and Neck Surgery, STEMM - Stem Cells and Metabolism Research Program, Juha Kere / Principal Investigator, Research Programs Unit, University of Helsinki, Language, RS: FPN CN 7, The Royal Society, University of St Andrews. Cellular Medicine Division, 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, and University of St Andrews. St Andrews Bioinformatics Unit

Subjects
Neuroinformatics, Adult, kieli ja kielet, Adolescent, Individuality, QH426 Genetics, Polymorphism, Single Nucleotide, lukeminen, Language in Interaction, Young Adult, SDG 3 - Good Health and Well-being, RA0421, reading, RA0421 Public health. Hygiene. Preventive Medicine, Humans, Speech, study, Polymorphism, Reading j, Preschool, Child, QH426, perinnöllisyys, Genome-wide Association Study, Language, Meta-analysis, Reading, MCC, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], genome-wide association study, language, Multidisciplinary, meta-analyysi, 1184 Genetics, developmental biology, physiology, kielitaito, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, DAS, Single Nucleotide, meta-analysis, Genetic Loci, Child, Preschool, Genome-Wide Association Study, perimä, lukutaito, genome-wide association, SDG 4 - Quality Education
Abstract

Published August 23, 2022 The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in samples of 13,633 to 33,959 participants aged 5 to 26 y. We identified genome-wide significant association with word reading (rs11208009, P = 1.098 × 1028) at a locus that has not been associated with intelligence or educational attainment. All five reading-/language-related traits showed robust SNP heritability, accounting for 13 to 26% of trait variability. Genomic structural equation modeling revealed a shared genetic factor explaining most of the variation in word/nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence, and educational attainment. A multivariate GWAS of word/nonword reading, spelling, and phoneme awareness maximized power for follow-up investigation. Genetic correlation analysis with neuroimaging traits identified an association with the surface area of the banks of the left superior temporal sulcus, a brain region linked to the processing of spoken and written language. Heritability was enriched for genomic elements regulating gene expression in the fetal brain and in chromosomal regions that are depleted of Neanderthal variants. Together, these results provide avenues for deciphering the biological underpinnings of uniquely human traits. We thank all the children, twins, families, and participants who took part and are taking part in the 22 cohorts whose data contributed to these GWAS meta-analyses; the staff working on the different cohorts, including volunteers, study coordinators, interviewers, teachers, nurses, research scientists, general practitioners, midwives, psychologists, psychometrists, computer and laboratory technicians, and colleagues who assisted in the quality control and preparation of the imputed GWAS data; and the pharmacies and hospitals that were involved. B.M., B.M.-M., B.S.P., C.F., E.E., E.V., G.A., M.v.D., and S.E.F. are supported by the Max Planck Society. A.G. and T.F.M.A. were supported by the Munich Cluster for Systems Neurology (SyNergy), and A.G. was supported by Fondazione Umberto Veronesi. A.T.M. is supported by National Health and Medical Research Council of Australia (NHMRC) Grants 1105008 and 1195955 and Centre of Research Excellence Grant 1116976. A.J.O.W. is supported by NHMRC Grant 1173896. B.S.P. is supported by Simons Foundation Autism Research Initiative Grant 514787. C.Y.S. works in the Medical Research Council Integrative Epidemiology Unit at the University of Bristol (MC_UU_00011/3). D.I.B. acknowledges Royal Netherlands Academy of Science Professor Award PAH/6635. E.E. is supported by NIH Grant R01DC016977. E.G.W. and J.R.G. are supported by National Institute of Child Health and Human Development (NICHD) Grant P50 HD 27802. F.R. is supported by Agence Nationale de la Recherche Grants ANR-06-NEURO-019-01, ANR-17-EURE-0017 IEC, ANR-10-IDEX-0001-02 PSL, and ANR-11-BSV4-014-01 and European Commission Grant LSHM-CT-2005-018696. H.T. is supported by the Netherlands Organization for Scientific Research (NWO) and Netherlands Organisation for Health Research and Development (ZonMW) Grant VICI 016.VICI.170.200. J.C.D. was supported by NICHD Grant P50 HD 27802. J.J.M., J.B.To., and T.K. were supported by NIH Grant R01 DC014489. K.M.P. was supported by the Hospital for Sick Children Research Training Program (Restracomp). K.R. is supported by a Sir Henry Wellcome Postdoctoral Fellowship (213514/Z/18/Z). M.J.S. is supported by Wellcome Trust Grant WT082032MA. S.P. and F.A. are supported by Royal Society Grants UF150663 and RGF\EA\180141. T.B. is supported by Institut Pasteur, the Bettencourt-Schueller Foundation, and Université de Paris. The Adolescent Brain Cognitive Development Study is supported by the NIH and additional federal partners (NIH Grants U01DA041048, U01DA050989, U01DA051016, U01DA041022, U01DA051018, U01DA051037, U01DA050987, U01DA041174, U01DA041106, U01DA041117, U01DA041028, U01DA041134, U01DA050988, U01DA051039, U01DA041156, U01DA041025, U01DA041120, U01DA051038, U01DA041148, U01DA041093, U01DA041089, U24DA041123, and U24DA041147). The Aston Cohort was supported by funding from European Union (EU) Horizon 2020 Programme 641652 and Waterloo Foundation Grant 797/17290. The St. Andrews Bioinformatics Unit is funded by Wellcome Trust Grants 105621/Z/14/Z and 204821/Z/16/Z. ALSPAC is supported by UK Medical Research Council and Wellcome Grant 217065/Z/19/Z and the University of Bristol. A comprehensive list of grant funding is available on the ALSPAC website (http://www.bristol.ac.uk/alspac/external/documents/grant-acknowledgements.pdf). The Basque Center on Cognition, Brain and Language (BCBL) cohort was supported by the Basque Government through the Basic Excellence Research Centre program and the Agencia Estatal de Investigación through BCBL Severo Ochoa excellence accreditation. The Brisbane Adolescent Twin Sample was supported by Australian Research Council Grants A7960034, A79906588, A79801419, DP0212016, and DP0343921, with genotyping funded by the NHMRC Grant 389891. The Colorado Learning Disabilities Research Center cohort was supported by NICHD Grant P50 HD 27802. The Early Language in Victoria Study was supported by NHMRC Grant 436958. The Familial Influences on Literacy Abilities cohort is supported by the University of Amsterdam, the Max Planck Institue Nijmegen, and NWO Grants Rubicon 446-12-005 and VENI 451-15-017. The GRaD study was funded by the Manton Foundation, NIH Grants P50-HD027802 and K99-HD094902, and the Lambert Family. NeuroDys was funded by an EU Sixth Framework Program grant to the NeuroDys Consortium, Swiss National Science Foundation Grant 32-108130, and Austrian Science Fund Grant 18351-B02. The Netherlands Twin Register is funded by NWO Grants 480-04-004, 481-08-011, 056-32-010, 024.001.003, 480-15-001/674, 184.021.007, 184.033.111, and 56-464-14192; ZonMW Grants 911-09-032 and 912-10-020; the Amsterdam Public Health and Amsterdam Reproduction and Development Research Institutes; European Science Council Grant ERC Advanced 230374; EU Seventh Framework Program (FP7) Grant FP7/2007-2013: 602768; National Institute of Mental Health (NIMH) Grants U24 MH068457-06, R01 MH58799-03, and 1RC2 MH089995; and the Avera Institute for Human Genetics. The Pediatric Imaging, Neurocognition, and Genetics cohort is funded by NIH Grant RC2DA029475, the National Institute on Drug Abuse, and the Eunice Kennedy Shriver NICHD. The Philadelphia Neurodevelopmental Cohort is funded by NIH Grants RC2MH089983 and RC2MH089924, an institutional development award to the Center for Applied Genomics from The Children’s Hospital of Philadelphia, and a donation from Adele and Daniel Kubert and thanks the NIH data repository. The Raine study was supported by long-term funding from NHMRC Grants 572613, 403981, and 1059711 and Canadian Institutes of Health Research (CIHR) Grant MOP-82893. Funding was also provided by the University of Western Australia, Curtin University, the Women and Infants Research Foundation, the Telethon Kids Institute, Edith Cowan University, Murdoch University, the University of Notre Dame Australia, and the Raine Medical Research Foundation. The Raine study analyses were supported by the Pawsey Supercomputing Centre with funding from the Australian Government and the Government of Western Australia. The Saguenay Youth Study is supported by the CIHR, the Heart and Stroke Foundation of Quebec, and the Canadian Foundation for Innovation. The SLI Consortium was funded by Wellcome Trust Grant 076566 and UK Medical Research Council Grant G1000569. The Twins Early Development Study is supported by UK Medical Research Council Grants MR/V012878/1 and MR/M021475/1, NIH Grant AG046938, and the EU FP7 grant FP7/2007-2013/: 602768. Toronto was supported by CIHR Grant MOP-133440. UK Dyslexia was supported by Wellcome Trust Grants 076566/Z/05/Z and 075491/Z/04, Waterloo Foundation Grant 797–1720, EU Grant 018696, and Royal Society Grant UF100463. The York cohort was funded by Wellcome Trust Grant 082036/B/07/Z. We acknowledge iPSYCH for sharing their summary statistics. The iPSYCH team was supported by Lundbeck Foundation Grants R102-A9118, R155-2014-1724, and R248-2017-2003; NIMH Grant 1U01MH109514-01; and the Universities and University Hospitals of Aarhus and Copenhagen. The Danish National Biobank resource was supported by the Novo Nordisk Foundation. High-performance computer capacity was provided by the Center for Genomics and Personalized Medicine and the Centre for Integrative Sequencing, Aarhus University, Denmark.

Published
2022
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6. Discovery of 42 genome-wide significant loci associated with dyslexia

Author

Doust, C., Fontanillas, P., Eising, E., Gordon, S.D., Wang, Z, Alagoz, G., Molz, B., St Pourcain, B., Francks, C., Marioni, R.E., Zhao, J, Paracchini, S., Talcott, J.B., Monaco, A.P., Stein, J.F., Gruen, J.R., Olson, R.K., Willcutt, E.G., DeFries, J.C., Pennington, B.F., Smith, S.D., Wright, M.J., Martin, N.G., Auton, A., Bates, T.C., Fisher, S.E., Luciano, M., Doust, C., Fontanillas, P., Eising, E., Gordon, S.D., Wang, Z, Alagoz, G., Molz, B., St Pourcain, B., Francks, C., Marioni, R.E., Zhao, J, Paracchini, S., Talcott, J.B., Monaco, A.P., Stein, J.F., Gruen, J.R., Olson, R.K., Willcutt, E.G., DeFries, J.C., Pennington, B.F., Smith, S.D., Wright, M.J., Martin, N.G., Auton, A., Bates, T.C., Fisher, S.E., and Luciano, M.

Abstract

Contains fulltext : 284950.pdf (Publisher’s version ) (Open Access)

Published
2022

10. Evidence for linkage and association with reading disability, on 6p21.3-22

Author

Kaplan, D.E., Gayan, J., Ahn, J., Won, T.-W., Pauls, D., Olson, R.K., DeFries, J.C, Wood, F., Pennington, B.F., Page, G.P., Smith, S.D., and Gruen, J.R.

Subjects
Genetic research -- Analysis, Reading disability -- Causes of, Dyslexia -- Causes of, Chromosomes -- Genetic aspects, Chromosome mapping -- Genetic aspects, Phenotype -- Genetic aspects, Biological sciences
Published
2002

11. Increased variability of stimulus-driven cortical responses is associated with genetic variability in children with and without dyslexia

Author

McGovern Institute for Brain Research at MIT, Centanni, Tracy M., Pantazis, Dimitrios, Truong, D.T., Gruen, J.R., Gabrieli, John D. E., Hogan, T.P., McGovern Institute for Brain Research at MIT, Centanni, Tracy M., Pantazis, Dimitrios, Truong, D.T., Gruen, J.R., Gabrieli, John D. E., and Hogan, T.P.

Abstract

Individuals with dyslexia exhibit increased brainstem variability in response to sound. It is unknown as to whether increased variability extends to neocortical regions associated with audition and reading, extends to visual stimuli, and whether increased variability characterizes all children with dyslexia or, instead, a specific subset of children. We evaluated the consistency of stimulus-evoked neural responses in children with (N = 20) or without dyslexia (N = 12) as measured by magnetoencephalography (MEG). Approximately half of the children with dyslexia had significantly higher levels of variability in cortical responses to both auditory and visual stimuli in multiple nodes of the reading network. There was a significant and positive relationship between the number of risk alleles at rs6935076 in the dyslexia-susceptibility gene KIAA0319 and the degree of neural variability in primary auditory cortex across all participants. This gene has been linked with neural variability in rodents and in typical readers. These findings indicate that unstable representations of auditory and visual stimuli in auditory and other reading-related neocortical regions are present in a subset of children with dyslexia and support the link between the gene KIAA0319 and the auditory neural variability across children with or without dyslexia. Keywords: KIAA0319; gene; reading; neural variability; subgroups; mechanisms, MGH Institute of Health Professions, Halis Foundation for Dyslexia Research

Published
2020

13. Linkage disequilibrium studies of reading disability on 6p22

Author

Kaplan, D.E., Won, T.W., Ahn, J., Pauls, D., Olson, R., DeFries, J., Wood, F., Page, G., Smith, S.D., and Gruen, J.R.

Subjects
Reading disability -- Genetic aspects, Linkage (Genetics) -- Research, Biological sciences
Published
2000

16. A Transcription Map of the Major Histocompatibility Complex (MHC) Class I Region

Author

Gruen, J.R., primary, Nalabolu, S.R., additional, Chu, T.W., additional, Bowlus, C., additional, Fan, W.F., additional, Goei, V.L., additional, Wei, H., additional, Sivakamasundari, R., additional, Liu, Y.-C., additional, Xu, H.X., additional, Parimoo, S., additional, Nallur, G., additional, Ajioka, R., additional, Shukla, H., additional, Bray-Ward, P., additional, Pan, J., additional, and Weissman, S.M., additional

Published
1996
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18. 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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