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Polymorphisms in DCDC2 and S100B associate with developmental dyslexia
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نویسنده
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Matsson Hans ,Huss Mikael ,Persson Helena ,Einarsdottir Elisabet ,Tiraboschi Ettore ,Nopola-Hemmi Jaana ,Schumacher Johannes ,Neuhoff Nina ,Warnke Andreas ,Lyytinen Heikki ,Schulte-Körne Gert ,Nöthen Markus M ,Leppänen Paavo HT ,Peyrard-Janvid Myriam ,Kere Juha
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منبع
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journal of human genetics - 2015 - دوره : 60 - شماره : 7 - صفحه:399 -401
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چکیده
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Genetic studies of complex traits have become increasingly successful as progress is made in next-generation sequencing. we aimed at discovering single nucleotide variation present in known and new candidate genes for developmental dyslexia: cyp19a1, dcdc2, dip2a, dyx1c1, gcfc2 (also known as c2orf3), kiaa0319, mrpl19, pcnt, prmt2, robo1 and s100b. we used next-generation sequencing to identify single-nucleotide polymorphisms in the exons of these 11 genes in pools of 100 dna samples of finnish individuals with developmental dyslexia. subsequent individual genotyping of those 100 individuals, and additional cases and controls from the finnish and german populations, validated 92 out of 111 different single-nucleotide variants. a nonsynonymous polymorphism in dcdc2 (corrected p=0.002) and a noncoding variant in s100b (corrected p=0.016) showed a significant association with spelling performance in families of german origin. no significant association was found for the variants neither in the finnish case-control sample set nor in the finnish family sample set. our findings further strengthen the role of dcdc2 and implicate s100b, in the biology of reading and spelling.
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آدرس
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Karolinska Institutet, Department of Biosciences and Nutrition, Sweden, Science for Life Laboratory, Sweden. Stockholm University, Department of Biochemistry and Biophysics, Sweden, Karolinska Institutet, Department of Biosciences and Nutrition, Sweden, Karolinska Institutet, Department of Biosciences and Nutrition, Sweden, Karolinska Institutet, Department of Biosciences and Nutrition, Sweden, University Central Hospital, Division of Child Neurology, Department of Gynecology and Pediatrics, Finland, University of Bonn, Germany, University of Munich, Department of Child and Adolescent Psychiatry, Germany, University of Wuerzburg, Department of Child and Adolescent Psychiatry, Germany, University of Jyväskylä, Finland, University of Munich, Department of Child and Adolescent Psychiatry, Germany, University of Bonn, Department of Genomics, Germany, University of Jyväskylä, Department of Psychology, Finland, Karolinska Institutet, Department of Biosciences and Nutrition, Sweden, Karolinska Institutet, Department of Biosciences and Nutrition, Sweden. Science for Life Laboratory, Sweden. University of Helsinki, Molecular Neurology Research Program, Research Programs Unit, Finland. Folkhälsan Institute of Genetics, Finland
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Authors
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