Skip header and navigation

Refine By

19 records – page 1 of 2.

15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia.

https://arctichealth.org/en/permalink/ahliterature287813
Source
Transl Psychiatry. 2017 Apr 25;7(4):e1109
Publication Type
Article
Date
Apr-25-2017
Author
M O Ulfarsson
G B Walters
O. Gustafsson
S. Steinberg
A. Silva
O M Doyle
M. Brammer
D F Gudbjartsson
S. Arnarsdottir
G A Jonsdottir
R S Gisladottir
G. Bjornsdottir
H. Helgason
L M Ellingsen
J G Halldorsson
E. Saemundsen
B. Stefansdottir
L. Jonsson
V K Eiriksdottir
G R Eiriksdottir
G H Johannesdottir
U. Unnsteinsdottir
B. Jonsdottir
B B Magnusdottir
P. Sulem
U. Thorsteinsdottir
E. Sigurdsson
D. Brandeis
A. Meyer-Lindenberg
H. Stefansson
K. Stefansson
Source
Transl Psychiatry. 2017 Apr 25;7(4):e1109
Date
Apr-25-2017
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Chromosome Aberrations
Chromosome Deletion
Chromosomes, Human, Pair 15 - genetics
Cognition - physiology
DNA Copy Number Variations - genetics
Developmental Disabilities - genetics
Dyscalculia - genetics
Dyslexia - genetics
Female
Functional Neuroimaging - methods - standards
Heterozygote
Humans
Iceland - epidemiology
Intellectual Disability - genetics
Magnetic Resonance Imaging - methods
Male
Middle Aged
Neuropsychological Tests - standards
Phenotype
Temporal Lobe - anatomy & histology - diagnostic imaging
Young Adult
Abstract
Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1-BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1-BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia. We also show that the deletion associates with a smaller left fusiform gyrus. Moreover, tailored functional magnetic resonance imaging experiments using phonological lexical decision and multiplication verification tasks demonstrate altered activation in the left fusiform and the left angular gyri in carriers. Thus, by using convergent evidence from neuropsychological testing, and structural and functional neuroimaging, we show that the 15q11.2(BP1-BP2) deletion affects cognitive, structural and functional correlates of both dyslexia and dyscalculia.
Notes
Cites: Psychol Bull. 2005 Jul;131(4):592-61716060804
Cites: Neuroimage. 2009 Feb 1;44(3):1103-1219027075
Cites: Trends Neurosci. 2001 Sep;24(9):508-1111506881
Cites: J Learn Disabil. 2013 Nov-Dec;46(6):549-6923572008
Cites: Neuroimage. 2011 Aug 1;57(3):742-920884362
Cites: Cogn Neuropsychol. 2003 May 1;20(3):487-50620957581
Cites: Genet Med. 2013 Jun;15(6):478-8123258348
Cites: Neuroimage. 2009 Oct 1;47(4):1940-919446640
Cites: Brain. 2000 Feb;123 ( Pt 2):291-30710648437
Cites: PLoS One. 2012;7(8):e4312222916214
Cites: Nature. 2015 Apr 9;520(7546):224-925607358
Cites: Proc Biol Sci. 2015 May 7;282(1806):2014313925854887
Cites: Neurology. 2001 Mar 27;56(6):781-311274316
Cites: Mol Psychiatry. 2015 Feb;20(1):140-725421402
Cites: J Neurosci. 2014 Aug 20;34(34):11199-21125143601
Cites: Neuroimage. 1995 Dec;2(4):244-529343609
Cites: Front Hum Neurosci. 2009 Nov 24;3:5120046827
Cites: J Clin Psychiatry. 1998;59 Suppl 20:22-33;quiz 34-579881538
Cites: Science. 2011 May 27;332(6033):1049-5321617068
Cites: Hum Brain Mapp. 2009 Sep;30(9):2936-5219172644
Cites: Nat Genet. 2012 Apr 15;44(5):552-6122504417
Cites: Neuroimage. 2007 Oct 15;38(1):95-11317761438
Cites: Neuroscientist. 2013 Feb;19(1):43-6122547530
Cites: PLoS One. 2012;7(8):e4242222900020
Cites: Genes Brain Behav. 2015 Apr;14(4):369-7625778778
Cites: Nat Neurosci. 2016 Mar;19(3):420-3126854805
Cites: Hum Brain Mapp. 2009 Oct;30(10):3299-30819288465
Cites: Transl Psychiatry. 2014 Mar 25;4:e37424667445
Cites: Stat Methods Med Res. 2003 Oct;12(5):419-4614599004
Cites: J Learn Disabil. 2014 Nov-Dec;47(6):532-4223456983
Cites: Vision Res. 2001;41(10-11):1409-2211322983
Cites: J Neurosci. 1997 Jun 1;17(11):4302-119151747
Cites: Hum Brain Mapp. 2013 Nov;34(11):3055-6522711189
Cites: Neuroimage. 2002 Jan;15(1):273-8911771995
Cites: Brain Res Bull. 2005 Nov 15;67(5):403-1216216687
Cites: Cell Stem Cell. 2014 Jul 3;15(1):79-9124996170
Cites: Neuropsychologia. 2016 Mar;83:48-6226119921
Cites: Ann N Y Acad Sci. 2008 Dec;1145:237-5919076401
Cites: Hum Brain Mapp. 2008 May;29(5):613-2517636558
Cites: Proc Natl Acad Sci U S A. 2010 Apr 27;107(17):7939-4420395549
Cites: Cortex. 2010 Nov-Dec;46(10):1284-9820650450
Cites: J Exp Child Psychol. 2009 Jul;103(3):309-2419398112
Cites: Neuroimage. 2000 Jun;11(6 Pt 1):805-2110860804
Cites: Nature. 2014 Jan 16;505(7483):361-624352232
Cites: Nat Rev Neurosci. 2015 Apr;16(4):234-4425783611
PubMed ID
28440815 View in PubMed
Less detail

Absence of linkage of phonological coding dyslexia to chromosome 6p23-p21.3 in a large family data set.

https://arctichealth.org/en/permalink/ahliterature204108
Source
Am J Hum Genet. 1998 Nov;63(5):1448-56
Publication Type
Article
Date
Nov-1998
Author
L L Field
B J Kaplan
Author Affiliation
Department of Medical Genetics, Faculty of Medicine, Alberta Children's Hospital, University of Calgary, Calgry, Alberta, Canada. field@ucalgary.ca
Source
Am J Hum Genet. 1998 Nov;63(5):1448-56
Date
Nov-1998
Language
English
Publication Type
Article
Keywords
African Continental Ancestry Group - genetics
Alberta
Alleles
Auditory Perception
Child
Chromosome Mapping
Chromosomes, Human, Pair 6
Dyslexia - genetics - physiopathology
Europe - ethnology
European Continental Ancestry Group - genetics
Gene Frequency
Genetic Linkage
Genetic markers
Genotype
Humans
Lod Score
Nuclear Family
Abstract
Previous studies have suggested that a locus predisposing to specific reading disability (dyslexia) resides on chromosome 6p23-p21.3. We investigated 79 families having at least two siblings affected with phonological coding dyslexia, the most common form of reading disability (617 people genotyped, 294 affected), and we tested for linkage with the genetic markers reported to be linked to dyslexia in those studies. No evidence for linkage was found by LOD score analysis or affected-sib-pair methods. However, using the affected-pedigree-member (APM) method, we detected significant evidence for linkage and/or association with some markers when we used published allele frequencies with weighting of rarer alleles. APM results were not significant when we used marker allele frequencies estimated from parents. Furthermore, results were not significant with the more robust SIMIBD method using either published or parental marker frequencies. Finally, family-based association analysis using the AFBAC program showed no evidence for association with any marker. We conclude that the APM method should be used only with extreme caution, because it appears to have generated false-positive results. In summary, using a large data set with high power to detect linkage, we were unable to find evidence for linkage or association between phonological coding dyslexia and chromosome 6p markers.
Notes
Cites: Am J Hum Genet. 1997 Jan;60(1):27-398981944
Cites: Am J Hum Genet. 1996 Apr;58(4):892-58644756
Cites: Acta Psychiatr Neurol Suppl. 1950;65:1-28714846691
Cites: Dev Med Child Neurol. 1973 Apr;15(2):184-74697752
Cites: Ann Hum Genet. 1976 Jul;40(1):1-23962317
Cites: Behav Genet. 1980 Jan;10(1):9-307425998
Cites: Science. 1983 Mar 18;219(4590):1345-76828864
Cites: Am J Hum Genet. 1985 May;37(3):482-983859205
Cites: Clin Genet. 1987 Aug;32(2):118-93652490
Cites: Nature. 1987 Oct 8-14;329(6139):537-93657975
Cites: Am J Hum Genet. 1988 Feb;42(2):315-263422543
Cites: Nucleic Acids Res. 1988 Feb 11;16(3):12153344216
Cites: Am J Hum Genet. 1989 Mar;44(3):388-962916582
Cites: Am J Hum Genet. 1989 Apr;44(4):543-512929597
Cites: J Am Acad Child Adolesc Psychiatry. 1989 May;28(3):326-312661524
Cites: J Learn Disabil. 1989 Jun-Jul;22(6):339-482738467
Cites: J Am Acad Child Adolesc Psychiatry. 1990 Mar;29(2):204-131969860
Cites: Arch Neurol. 1990 Aug;47(8):919-262375699
Cites: Nucleic Acids Res. 1990 Jul 25;18(14):43012377495
Cites: Arch Neurol. 1991 Apr;48(4):410-62012516
Cites: Nucleic Acids Res. 1991 Feb 25;19(4):9682017389
Cites: J Immunol. 1991 Aug 1;147(3):1053-91861069
Cites: Nucleic Acids Res. 1991 Aug 11;19(15):43061870992
Cites: Neuropsychologia. 1992 Mar;30(3):209-271574158
Cites: Cortex. 1992 Sep;28(3):483-911395648
Cites: Arch Neurol. 1993 May;50(5):461-98489401
Cites: Am J Hum Genet. 1993 Jul;53(1):252-638317490
Cites: Diabetes. 1993 Aug;42(8):1215-88392011
Cites: Am J Hum Genet. 1993 Oct;53(4):908-158213819
Cites: Hum Hered. 1993 Nov-Dec;43(6):329-368288263
Cites: Genet Epidemiol. 1993;10(6):389-948314032
Cites: Genet Epidemiol. 1993;10(6):395-4008314033
Cites: Science. 1994 Oct 14;266(5183):276-97939663
Cites: Am J Hum Genet. 1995 Aug;57(2):487-987668275
Cites: Nature. 1996 Mar 14;380(6570):152-48600387
Cites: Genomics. 1996 Apr 1;33(1):1-88617492
Cites: Am J Hum Genet. 1996 Apr;58(4):867-808644751
Erratum In: Am J Hum Genet 1999 Jan;64(1):334
PubMed ID
9792873 View in PubMed
Less detail

CNVs conferring risk of autism or schizophrenia affect cognition in controls.

https://arctichealth.org/en/permalink/ahliterature105563
Source
Nature. 2014 Jan 16;505(7483):361-6
Publication Type
Article
Date
Jan-16-2014
Author
Hreinn Stefansson
Andreas Meyer-Lindenberg
Stacy Steinberg
Brynja Magnusdottir
Katrin Morgen
Sunna Arnarsdottir
Gyda Bjornsdottir
G Bragi Walters
Gudrun A Jonsdottir
Orla M Doyle
Heike Tost
Oliver Grimm
Solveig Kristjansdottir
Heimir Snorrason
Solveig R Davidsdottir
Larus J Gudmundsson
Gudbjorn F Jonsson
Berglind Stefansdottir
Isafold Helgadottir
Magnus Haraldsson
Birna Jonsdottir
Johan H Thygesen
Adam J Schwarz
Michael Didriksen
Tine B Stensbøl
Michael Brammer
Shitij Kapur
Jonas G Halldorsson
Stefan Hreidarsson
Evald Saemundsen
Engilbert Sigurdsson
Kari Stefansson
Author Affiliation
1] deCODE genetics/Amgen, Sturlugata 8, IS-101 Reykjavík, Iceland [2].
Source
Nature. 2014 Jan 16;505(7483):361-6
Date
Jan-16-2014
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Autistic Disorder - genetics
Brain - abnormalities - anatomy & histology - metabolism
Case-Control Studies
Chromosome Deletion
Chromosomes, Human - genetics
Chromosomes, Human, Pair 15 - genetics
Cognition - physiology
DNA Copy Number Variations - genetics
Dyslexia - genetics
Female
Fertility - genetics
Genetic Predisposition to Disease
Heterozygote
Humans
Iceland
Learning Disorders - genetics
Magnetic Resonance Imaging
Male
Middle Aged
Neuropsychological Tests
Phenotype
Schizophrenia - genetics
Young Adult
Abstract
In a small fraction of patients with schizophrenia or autism, alleles of copy-number variants (CNVs) in their genomes are probably the strongest factors contributing to the pathogenesis of the disease. These CNVs may provide an entry point for investigations into the mechanisms of brain function and dysfunction alike. They are not fully penetrant and offer an opportunity to study their effects separate from that of manifest disease. Here we show in an Icelandic sample that a few of the CNVs clearly alter fecundity (measured as the number of children by age 45). Furthermore, we use various tests of cognitive function to demonstrate that control subjects carrying the CNVs perform at a level that is between that of schizophrenia patients and population controls. The CNVs do not all affect the same cognitive domains, hence the cognitive deficits that drive or accompany the pathogenesis vary from one CNV to another. Controls carrying the chromosome 15q11.2 deletion between breakpoints 1 and 2 (15q11.2(BP1-BP2) deletion) have a history of dyslexia and dyscalculia, even after adjusting for IQ in the analysis, and the CNV only confers modest effects on other cognitive traits. The 15q11.2(BP1-BP2) deletion affects brain structure in a pattern consistent with both that observed during first-episode psychosis in schizophrenia and that of structural correlates in dyslexia.
PubMed ID
24352232 View in PubMed
Less detail

A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1.

https://arctichealth.org/en/permalink/ahliterature101931
Source
Behav Genet. 2011 Jan;41(1):125-33
Publication Type
Article
Date
Jan-2011
Author
Roberta Buonincontri
Iben Bache
Asli Silahtaroglu
Carsten Elbro
Anne-Mette Veber Nielsen
Reinhard Ullmann
Ger Arkesteijn
Niels Tommerup
Author Affiliation
Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark. roberta@sund.ku.dk
Source
Behav Genet. 2011 Jan;41(1):125-33
Date
Jan-2011
Language
English
Publication Type
Article
Keywords
Adult
Amniocentesis
Basic Helix-Loop-Helix Transcription Factors - genetics
Child
Chromosome Mapping
Chromosomes, Human, Pair 15 - genetics
Chromosomes, Human, Pair 6 - genetics
Cohort Studies
Cyclic Nucleotide Phosphodiesterases, Type 7 - genetics
Denmark
Dyslexia - genetics
Female
Genetic Association Studies
Heterozygote Detection
Humans
Karyotyping
Male
Nerve Tissue Proteins - genetics
Nuclear Proteins - genetics
Pedigree
Phenotype
Polymorphism, Single Nucleotide - genetics
Pregnancy
Translocation, Genetic - genetics
Zinc Fingers - genetics
Abstract
Dyslexia is one of the most common neurodevelopmental disorders where likely many genes are involved in the pathogenesis. So far six candidate dyslexia genes have been proposed, and two of these were identified by rare chromosomal translocations in affected individuals. By systematic re-examination of all translocation carriers in Denmark, we have identified 16 different translocations associated with dyslexia. In four families, where the translocation co-segregated with the phenotype, one of the breakpoints concurred (at the cytogenetic level) with either a known dyslexia linkage region--at 15q21 (DYX1), 2p13 (DYX3) and 1p36 (DYX8)--or an unpublished linkage region at 19q13. As a first exploitation of this unique cohort, we identify three novel candidate dyslexia genes, ZNF280D and TCF12 at 15q21, and PDE7B at 6q23.3, by molecular mapping of the familial translocation with the 15q21 breakpoint.
PubMed ID
20798984 View in PubMed
Less detail

Confirmation of a dyslexia susceptibility locus on chromosome 1p34-p36 in a set of 100 Canadian families.

https://arctichealth.org/en/permalink/ahliterature180409
Source
Am J Med Genet B Neuropsychiatr Genet. 2004 May 15;127B(1):117-24
Publication Type
Article
Date
May-15-2004
Author
Jordana Tzenova
Bonnie J Kaplan
Tracey L Petryshen
L Leigh Field
Author Affiliation
Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
Source
Am J Med Genet B Neuropsychiatr Genet. 2004 May 15;127B(1):117-24
Date
May-15-2004
Language
English
Publication Type
Article
Keywords
Canada
Child
Chromosome Mapping
Chromosomes, Human, Pair 1 - genetics
Dyslexia - genetics - pathology
Family Health
Genetic Predisposition to Disease - genetics
Genotype
Humans
Lod Score
Microsatellite Repeats
Phenotype
Abstract
Dyslexia is a common and genetically complex trait that manifests primarily as a reading disability independent of general intelligence and educational opportunity. Strong evidence for a dyslexia susceptibility locus on chromosome 1p34-p36 (near marker D1S199) was recently reported, and an earlier study found suggestive evidence for linkage to the same region. We tested for the presence of a dyslexia gene in this region in a sample of 100 Canadian families using both qualitative and quantitative definitions of the phenotype. Using a qualitative definition of dyslexia (affected, unaffected, or uncertain), the largest multipoint Genehunter Maximum LOD-Score (MLS) in 100 core nuclear families was 3.65 at D1S507, distal to D1S199. Quantitative trait locus (QTL) linkage analysis was performed for four measures of dyslexia (phonological awareness, phonological coding, spelling, and rapid automatized naming speed) employing the variance components approach implemented in Genehunter. Using a model with QTL additive and dominance variance and polygenic additive variance, the multipoint LOD scores maximized proximal to D1S199 (between D1S552 and D1S1622), with peaks of 4.01 for spelling and 1.65 for phonological coding (corresponding LOD scores under 1 degree of freedom were 3.30 and 1.13, respectively). In conclusion, our study confirms and strengthens recent findings of a dyslexia susceptibility gene on chromosome 1p34-p36 (now designated DYX8).
PubMed ID
15108193 View in PubMed
Less detail

A dominant gene for developmental dyslexia on chromosome 3.

https://arctichealth.org/en/permalink/ahliterature193082
Source
J Med Genet. 2001 Oct;38(10):658-64
Publication Type
Article
Date
Oct-2001
Author
J. Nopola-Hemmi
B. Myllyluoma
T. Haltia
M. Taipale
V. Ollikainen
T. Ahonen
A. Voutilainen
J. Kere
E. Widén
Author Affiliation
Department of Paediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Finland.
Source
J Med Genet. 2001 Oct;38(10):658-64
Date
Oct-2001
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Analysis of Variance
Child
Chromosome Mapping
Chromosomes, Human, Pair 3 - genetics
Dyslexia - genetics - physiopathology
Female
Finland
Genes, Dominant - genetics
Haplotypes - genetics
Humans
Lod Score
Male
Memory - physiology
Middle Aged
Pedigree
Psychological Tests
Radiation Hybrid Mapping
Reading
Receptors, Dopamine D2 - genetics
Receptors, Dopamine D3
Receptors, Serotonin - genetics
Abstract
Developmental dyslexia is a neurofunctional disorder characterised by an unexpected difficulty in learning to read and write despite adequate intelligence, motivation, and education. Previous studies have suggested mostly quantitative susceptibility loci for dyslexia on chromosomes 1, 2, 6, and 15, but no genes have been identified yet. We studied a large pedigree, ascertained from 140 families considered, segregating pronounced dyslexia in an autosomal dominant fashion. Affected status and the subtype of dyslexia were determined by neuropsychological tests. A genome scan with 320 markers showed a novel dominant locus linked to dyslexia in the pericentromeric region of chromosome 3 with a multipoint lod score of 3.84. Nineteen out of 21 affected pedigree members shared this region identical by descent (corrected p
Notes
Cites: J Med Genet. 2000 Oct;37(10):771-511015455
Cites: Acta Psychiatr Neurol Suppl. 1950;65:1-28714846691
Cites: Science. 1983 Mar 18;219(4590):1345-76828864
Cites: Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-66587361
Cites: Nature. 1987 Oct 8-14;329(6139):537-93657975
Cites: Hum Genet. 1991 Sep;87(5):618-201916765
Cites: Proc Natl Acad Sci U S A. 1993 Mar 15;90(6):2184-88384716
Cites: Lancet. 1993 Jul 17;342(8864):1788101276
Cites: Lancet. 1993 Jul 17;342(8864):178-98101277
Cites: Arch Neurol. 1994 Jan;51(1):27-388274107
Cites: Am J Med Genet. 1994 Jun 15;54(2):122-318074162
Cites: Science. 1994 Oct 14;266(5183):276-97939663
Cites: Am J Hum Genet. 1996 Jun;58(6):1347-638651312
Cites: Am J Med Genet. 1996 Feb 16;67(1):63-708678117
Cites: Ann Neurol. 1996 Aug;40(2):157-628773596
Cites: Am J Hum Genet. 1997 Jan;60(1):27-398981944
Cites: Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2636-419482939
Cites: Am J Hum Genet. 1998 Jul;63(1):279-829634517
Cites: Lancet. 1998 Jun 20;351(9119):1849-529652669
Cites: Science. 1998 Oct 23;282(5389):744-69784132
Cites: Rev Neurosci. 1998;9(4):275-899886142
Cites: Am J Hum Genet. 1999 Jan;64(1):146-569915953
Cites: Am J Hum Genet. 1999 Jan;64(1):157-649915954
Cites: J Med Genet. 1999 Sep;36(9):664-910507721
Cites: Neuropsychologia. 1976;14(4):471-9995240
PubMed ID
11584043 View in PubMed
Less detail

Dyslexia and chromosome 15 heteromorphism: negative lod score in a Danish material.

https://arctichealth.org/en/permalink/ahliterature234903
Source
Clin Genet. 1987 Aug;32(2):118-9
Publication Type
Article
Date
Aug-1987
Author
M L Bisgaard
H. Eiberg
N. Møller
E. Niebuhr
J. Mohr
Author Affiliation
University Institute of Medical Genetics, Copenhagen, Denmark.
Source
Clin Genet. 1987 Aug;32(2):118-9
Date
Aug-1987
Language
English
Publication Type
Article
Keywords
Chromosomes, Human, Pair 15
Denmark
Dyslexia - genetics
Female
Genetic Linkage
Humans
Lod Score
Male
Polymorphism, Genetic
Abstract
From a large Danish material of random families we selected families with dyslexia as reported by the families themselves and as recorded by a dyslexia institute. Among five "backcross families" studied for chromosome 15 polymorphisms we found only negative lod scores, and at theta = 0.10 a negative score of -3.42; i.e., in our material we did not find any confirmation of the indication of linkage between dyslexia and a chromosome 15 polymorphism found in part of their material by Smith et al. (1983, 1986).
PubMed ID
3652490 View in PubMed
Less detail

Exploring interactive effects of genes and environments in etiology of individual differences in reading comprehension.

https://arctichealth.org/en/permalink/ahliterature160872
Source
Dev Psychopathol. 2007;19(4):1089-103
Publication Type
Article
Date
2007
Author
Elena L Grigorenko
Colin G Deyoung
Marya Getchell
Gerald J Haeffel
Britt A F Klinteberg
Roman A Koposov
Lars Oreland
Andrew J Pakstis
Vladislav V Ruchkin
Carolyn M Yrigollen
Author Affiliation
Child Study Center, Yale University, 230 South Frontage Road, New Haven, CT 06519, USA. elena.grigorenko@yale.edu
Source
Dev Psychopathol. 2007;19(4):1089-103
Date
2007
Language
English
Publication Type
Article
Keywords
Adolescent
Catechol O-Methyltransferase - genetics
Comprehension
Dyslexia - genetics - psychology
Genetic Predisposition to Disease - genetics
Genotype
Haplotypes
Humans
Individuality
Juvenile Delinquency - psychology
Male
Polymorphism, Single Nucleotide - genetics
Reading
Regression Analysis
Rejection (Psychology)
Russia
Social Environment
Abstract
It is established that reading and reading-related processes are heritable; genes thus play an important role in the foundation of individual differences in reading. In this article, we focus on one facet of reading-comprehension. Comprehension is a higher order cognitive skill that requires many other cognitive processes for it to unfold completely and successfully. One such process is executive functioning, which has been associated with genetic variation in the catechol-O-methyltransferase (COMT) gene. Genotypes and haplotypes of four single nucleotide polymorphisms in COMT were investigated in 179 incarcerated adolescent delinquents. Four hierarchical logistic regression models predicting the presence/absence of comprehension difficulties were fitted to the data; genetic variation in COMT and the presence/absence of maternal rejection were investigated as main effects and as effects acting interactively. Three out of four interaction terms were found to be important predictors of individual differences in comprehension. These findings were supported by the results of the haplotype analyses, in which the four investigated polymorphisms were considered simultaneously.
PubMed ID
17931436 View in PubMed
Less detail

Familial dyslexia: neurocognitive and genetic correlation in a large Finnish family.

https://arctichealth.org/en/permalink/ahliterature188582
Source
Dev Med Child Neurol. 2002 Sep;44(9):580-6
Publication Type
Article
Date
Sep-2002
Author
Jaana Nopola-Hemmi
Birgitta Myllyluoma
Arja Voutilainen
Seija Leinonen
Juha Kere
Timo Ahonen
Author Affiliation
Department of Paediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Finland. jaana.nopola-hemmi@hus.fi
Source
Dev Med Child Neurol. 2002 Sep;44(9):580-6
Date
Sep-2002
Language
English
Publication Type
Article
Keywords
Adult
Child
Cognition Disorders - genetics
Dyslexia - genetics - physiopathology
Female
Finland
Humans
Language Disorders - genetics
Male
Memory
Neuropsychological Tests
Pedigree
Abstract
Neuropsychological findings of individuals with dyslexia (n=24) from a large, three-generation Finnish family are presented. We have previously performed whole genome linkage scanning in this family and found that dyslexia in this kindred segregates with a single locus in the pericentromeric area of chromosome 3. Those included in the analyses were carefully evaluated for general cognitive ability, reading and spelling skills, and reading-related neurocognitive skills. The neurocognitive type of dyslexia segregating in this family consisted of deficits in phonological awareness, verbal short-term memory, and rapid naming. Severe dyslexia also seemed to be connected with a general language difficulty and was most common in the eldest generation.
PubMed ID
12227612 View in PubMed
Less detail

A family-based association analysis and meta-analysis of the reading disabilities candidate gene DYX1C1.

https://arctichealth.org/en/permalink/ahliterature117012
Source
Am J Med Genet B Neuropsychiatr Genet. 2013 Mar;162B(2):146-56
Publication Type
Article
Date
Mar-2013
Author
C. Tran
F. Gagnon
K G Wigg
Y. Feng
L. Gomez
T D Cate-Carter
E N Kerr
L L Field
B J Kaplan
M W Lovett
C L Barr
Author Affiliation
Genetics and Development Division, Toronto Western Research Institute, Toronto Western Hospital, University Health Network, Toronto, Ontario, Canada.
Source
Am J Med Genet B Neuropsychiatr Genet. 2013 Mar;162B(2):146-56
Date
Mar-2013
Language
English
Publication Type
Article
Keywords
Adolescent
Canada
Child
Dyslexia - genetics
Family
Genetic Association Studies
Genetic markers
Genetic Predisposition to Disease
Haplotypes - genetics
Humans
Linkage Disequilibrium - genetics
Models, Genetic
Nerve Tissue Proteins - genetics
Nuclear Proteins - genetics
Polymorphism, Single Nucleotide - genetics
Abstract
Reading disabilities (RD) have a significant genetic basis and have shown linkage to multiple regions including chromosome 15q. Dyslexia susceptibility 1 candidate gene 1 (DYX1C1) on chromosome 15q21 was originally proposed as a candidate gene with two potentially functional polymorphisms at the -3G/A and 1249G/T positions showing association with RD. However, subsequent studies have yielded mixed results. We performed a literature review and meta-analysis of the -3G/A and 1249G/T polymorphisms, including new unpublished data from two family-based samples. Ten markers in DYX1C1 were genotyped in the two independently ascertained samples. Single marker and -3G/A:1249G/T haplotype analyses were performed for RD in both samples, and quantitative trait analyses using standardized reading-related measures was performed in one of the samples. For the meta-analysis, we used a random-effects model to summarize studies that tested for association between -3G/A or 1249G/T and RD. No significant association was found between the DYX1C1 SNPs and RD or any of the reading-related measures tested after correction for the number of tests performed. The previously reported risk haplotype (-3A:1249T) was not biased in transmission. A total of 9 and 10 study samples were included in the meta-analysis of the -3G/A and 1249G/T polymorphisms, respectively. Neither polymorphism reached statistical significance, but the heterogeneity for the 1249G/T polymorphism was high. The results of this study do not provide evidence for association between the putatively functional SNPs -3G/A and 1249G/T and RD.
PubMed ID
23341075 View in PubMed
Less detail

19 records – page 1 of 2.