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  • 1
    Keywords: EXPRESSION ; screening ; DISTINCT ; GENE ; GENES ; GENOME ; DNA ; FAMILY ; ASSOCIATION ; autistic disorder,susceptibility gene,chromosome 2,mutation screening,association ; CANDIDATE GENE ; chromosome ; DISORDER ; DLX GENES ; FREQUENCY ; GENOMEWIDE SCREEN ; GENOMIC SCREEN ; GLUTAMIC-ACID DECARBOXYLASE ; LINKAGE ; polymorphism ; POLYMORPHISMS ; SIGNAL ; single nucleotide polymorphism ; SUSCEPTIBILITY ; SUSCEPTIBILITY GENES ; SUSCEPTIBILITY LOCUS ; VARIANTS
    Abstract: The results from several genome scans indicate that chromosome 2q21-q33 is likely to contain an autism susceptibility locus. We studied the potential contribution of nine positional and functional candidate genes: TBR-1; GAD1; DLX1; DLX2; cAMP-GEFII; CHN1; ATF2; HOXD1 and NEUROD1. Screening these genes for DNA variants and association analysis using intragenic single nucleotide polymorphisms did not provide evidence for a major role in the aetiology of autism. Four rare nonsynonymous variants were identified, however, in the cAMP-GEFII gene. These variants were present in five families, where they segregate with the autistic phenotype, and were not observed in control individuals. The significance of these variants is unclear, as their low frequency in IMGSAC families does not account for the relatively strong linkage signal at the 2q locus. Further studies are needed to clarify the contribution of cAMP-GEFII gene variants to autism susceptibility
    Type of Publication: Journal article published
    PubMed ID: 14593429
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  • 2
    Keywords: human ; FOLLOW-UP ; screening ; GENE ; GENES ; GENOME ; PROTEIN ; DNA ; FAMILY ; ASSOCIATION ; chromosome ; FREQUENCY ; GENOMEWIDE SCREEN ; LINKAGE ; polymorphism ; POLYMORPHISMS ; single nucleotide polymorphism ; SUSCEPTIBILITY ; VARIANTS ; ACID ; NUCLEIC-ACIDS ; PATTERNS ; MUTATION ; genetics ; SNP ; REGION ; REGIONS ; LINKAGE DISEQUILIBRIUM ; MUTATIONS ; PERVASIVE DEVELOPMENTAL DISORDERS ; EVOLUTION ; Jun ; INDIVIDUALS ; LIQUID-CHROMATOGRAPHY ; molecular ; RE ; VARIANT ; SINGLE NUCLEOTIDE POLYMORPHISMS ; SNPs ; genomics ; CANDIDATE GENES ; RHEUMATOID-ARTHRITIS ; SINGLE-NUCLEOTIDE POLYMORPHISMS ; SCREEN ; association analysis ; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER ; autism ; COMMON DISEASE ; GENOTYPE ; HAPLOTYPE ; HAPLOTYPES ; LOCUS ; MOLECULAR-GENETICS ; multiplex ; P63 ; PEDIGREES ; single-nucleotide ; single-nucleotide polymorphism
    Abstract: Autism is a highly heritable neurodevelopmental disorder whose underlying genetic causes have yet to be identified. To date, there have been eight genome screens for autism, two of which identified a putative susceptibility locus on chromosome 16p. In the present study, 10 positional candidate genes that map to 16p11-13 were examined for coding variants: A2BP1, ABAT, BFAR, CREBBP, EMP2, GRIN2A, MRTF-B, SSTR5, TBX6, and UBN1. Screening of all coding and regulatory regions by denaturing high-performance liquid chromatography identified seven non-synonymous changes. Five of these mutations were found to cosegregate with autism, but the mutations are not predicted to have deleterious effects on protein structure and are unlikely to represent significant etiological variants. Selected variants from candidate genes were genotyped in the entire International Molecular Genetics Study of Autism Consortium collection of 239 multiplex families and were tested for association with autism by use of the pedigree disequilibrium test. Additionally, genotype frequencies were compared between 239 unrelated affected individuals and 192 controls. Patterns of linkage disequilibrium were investigated, and the transmission of haplotypes across candidate genes was tested for association. Evidence of single-marker association was found for variants in ABAT, CREBBP, and GRIN2A. Within these genes, 12 single-nucleotide polymorphisms (SNPs) were subsequently genotyped in 91 autism trios (one affected individual and two unaffected parents), and the association was replicated within GRIN2A (Fisher's exact test, P < .0001). Logistic regression analysis of SNP data across GRIN2A and ABAT showed a trend toward haplotypic differences between cases and controls
    Type of Publication: Journal article published
    PubMed ID: 15830322
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  • 3
    Keywords: SPECTRA ; RISK ; GENE ; GENES ; SAMPLES ; COMPLEX ; COMPLEXES ; FAMILY ; ASSOCIATION ; chromosome ; LINKAGE ; NUMBER ; SNP ; HUMAN GENOME ; TWIN ; PREVALENCE ; DISSECTION ; GLUTAMATE ; FAMILIES ; ARRAY ; REARRANGEMENT ; CANDIDATE ; SPECTRUM ; MENTAL-RETARDATION ; LOCI ; NEUROLIGINS ; SPECTRUM DISORDERS
    Abstract: Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs
    Type of Publication: Journal article published
    PubMed ID: 17322880
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  • 4
    Keywords: COMPLEX ; COMPLEXES ; ASSOCIATION ; DELETION ; COPY NUMBER ; CHROMOSOMES ; CONSORTIUM ; autism, BIOLOGY ; DI
    Abstract: Autism spectrum disorders are a group of highly heritable neurodevelopmental disorders with a complex genetic etiology. The International Molecular Genetic Study of Autism Consortium previously identified linkage loci on chromosomes 7 and 2, termed AUTS1 and AUTS5, respectively. In this study, we performed a high-density association analysis in AUTS1 and AUTS5, testing more than 3000 single nucleotide polymorphisms (SNPs) in all known genes in each region, as well as SNPs in non-genic highly conserved sequences. SNP genotype data were also used to investigate copy number variation within these regions. The study sample consisted of 127 and 126 families, showing linkage to the AUTS1 and AUTS5 regions, respectively, and 188 gender-matched controls. Further investigation of the strongest association results was conducted in an independent European family sample containing 390 affected individuals. Association and copy number variant analysis highlighted several genes that warrant further investigation, including IMMP2L and DOCK4 on chromosome 7. Evidence for the involvement of DOCK4 in autism susceptibility was supported by independent replication of association at rs2217262 and the finding of a deletion segregating in a sib-pair family.Molecular Psychiatry advance online publication, 28 April 2009; doi:10.1038/mp.2009.34.
    Type of Publication: Journal article published
    PubMed ID: 19401682
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  • 5
    Keywords: COHORT ; POPULATION ; GENE ; GENES ; BIOLOGY ; ASSOCIATION ; CANDIDATE GENE ; DISORDER ; GENOMEWIDE SCREEN ; LINKAGE ; SUSCEPTIBILITY ; SUSCEPTIBILITY LOCUS ; VARIANTS ; IDENTIFICATION ; genetics ; SNP ; REGION ; REGIONS ; PERVASIVE DEVELOPMENTAL DISORDERS ; POPULATIONS ; DISORDERS ; ASSOCIATIONS ; VARIANT ; CANDIDATE GENES ; SIZE ; COMPLEX TRAITS ; LOCI ; SEROTONIN TRANSPORTER ; autistic disorder ; SPECTRUM DISORDERS ; Genetic ; COHORTS ; ANCESTRY ; FAMILY-BASED ASSOCIATION ; GLUTAMATE-RECEPTOR-6 GENE ; GRIK2 POLYMORPHISMS ; INFANTILE-AUTISM
    Abstract: Over the past decade, research on the genetic variants underlying susceptibility to autism and autism spectrum disorders (ASDs) has focused on linkage and candidate gene studies. This research has implicated various chromosomal loci and genes. Candidate gene studies have proven to be particularly intractable, with many studies failing to replicate previously reported associations. In this paper, we investigate previously implicated genomic regions for a role in ASD susceptibility, using four cohorts of European ancestry. Initially, a 384 SNP Illumina GoldenGate array was used to examine linkage at six previously implicated loci. We identify linkage approaching genome-wide suggestive levels on chromosome 2 (rs2885116, MLOD=1.89). Association analysis showed significant associations in MKL2 with ASD (rs756472, P=4.31 x 10(-5)) and between SND1 and strict autism (rs1881084, P=7.76 x 10(-5)) in the Finnish and Northern Dutch populations, respectively. Subsequently, we used a second 384 SNP Illumina GoldenGate array to examine the association in seven candidate genes, and evidence for association was found in RELN (rs362780, P=0.00165). Further increasing the sample size strengthened the association with RELN (rs362780, P=0.001) and produced a second significant result in GRIK2 (rs2518261, P=0.008). Our results strengthen the case for a more detailed study of the role of RELN and GRIK2 in autism susceptibility, as well as identifying two new potential candidate genes, MKL2 and SND1. European Journal of Human Genetics (2010) 18, 1013-1019; doi:10.1038/ejhg.2010.69; published online 5 May 2010
    Type of Publication: Journal article published
    PubMed ID: 20442744
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  • 6
    Keywords: RECEPTOR ; EXPRESSION ; screening ; GENE ; GENES ; PROTEIN ; FAMILY ; ASSOCIATION ; chromosome ; polymorphism ; SUSCEPTIBILITY ; VARIANTS ; IDENTIFICATION ; PROMOTER ; family history ; MUTATION ; REGION ; LINKAGE DISEQUILIBRIUM ; MUTATIONS ; PERVASIVE DEVELOPMENTAL DISORDERS ; DIABETES-MELLITUS ; ADHESION MOLECULE ; CANDIDATE GENES ; autism ; LOCUS ; brain development ; mutation screening ; TRAITS ; transmission disequilibrium
    Abstract: Genetic studies have provided evidence for an autism susceptibility locus (AUTS1) on chromosome 7q. Screening for mutations in six genes mapping to 7q, CUTL1, SRPK2, SYPL, LAMB1, NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants in the genes CUTL1, LAMB1 and PTPRZ1. Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant. Association was also detected for several polymorphisms in the promoter and untranslated region of NRCAM, suggesting that alterations in expression of this gene may be linked to autism susceptibility
    Type of Publication: Journal article published
    PubMed ID: 15523497
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  • 7
    Keywords: FOLLOW-UP ; COMPLEX ; COMPLEXES ; ASSOCIATION ; chromosome ; GENOMEWIDE SCREEN ; GENOMIC SCREEN ; LINKAGE ; SUSCEPTIBILITY ; LINKAGE ANALYSIS ; genetics ; REGION ; REGIONS ; PERVASIVE DEVELOPMENTAL DISORDERS ; CHROMOSOMES ; development ; SCREEN ; autism ; PREDISPOSITION ; IDENTITY ; COMPLEX TRAITS ; DIAGNOSTIC OBSERVATION SCHEDULE ; GENETIC-LINKAGE
    Abstract: Background and methods: Autism is a severe neurodevelopmental disorder, which has a complex genetic predisposition. The ratio of males to females affected by autism is approximately 4: 1, suggesting that sex specific factors are involved in its development. We reported previously the results of a genomewide screen for autism susceptibility loci in 83 affected sibling pairs ( ASP), and follow up analysis in 152 ASP. Here, we report analysis of an expanded sample of 219 ASP, using sex and parent of origin linkage modelling at loci on chromosomes 2, 7, 9, 15, and 16. Results: The results suggest that linkage to chromosomes 7q and 16p is contributed largely by the male male ASP (MLS = 2.55 v 0.12, and MLS = 2.48 v 0.00, for the 145 male - male and 74 male - female/ female - female ASP on chromosomes 7 and 16 respectively). Conversely linkage to chromosome 15q appears to be attributable to the male - female/ female - female ASP ( MLS = 2.62 v 0.00, for non-male and male - male ASP respectively). On chromosomes 2 and 9, all ASP contribute to linkage. These data, supported by permutation, suggest a possible sex limited effect of susceptibility loci on chromosomes 7, 15, and 16. Parent of origin linkage modelling indicates two distinct regions of paternal and maternal identity by descent sharing on chromosome 7 ( paternal MLS = 1.46 at similar to112 cM, and maternal MLS = 1.83 at similar to135 cM; corresponding maternal and paternal MLS = 0.53 and 0.28 respectively), and maternal specific sharing on chromosome 9 ( maternal MLS = 1.99 at,30 cM; paternal MLS = 0.02). Conclusion: These data support the possibility of two discrete loci underlying linkage of autism to chromosome 7, and implicate possible parent of origin specific effects in the aetiology of autism
    Type of Publication: Journal article published
    PubMed ID: 15689451
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  • 8
    Abstract: The characteristics of early developmental regression (EDR) were investigated in individuals with ASD from affected relative pairs recruited to the International Molecular Genetic Study of Autism Consortium (IMGSAC). Four hundred and fifty-eight individuals with ASD were recruited from 226 IMGSAC families. Regression before age 36 months occurred in 23.9% of individuals. The observed concordance rate for EDR within sibling pairs (18.9%) was not significantly above the rate expected under independence (13.5%, p = 0.10). The rate of regression in individuals with ASD from multiplex families was similar to that reported in singleton and epidemiological samples. Regression concordance data were not supportive of a separate familial influence on EDR, other than as a part of autism itself.
    Type of Publication: Journal article published
    PubMed ID: 20711649
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  • 9
    ISSN: 1600-051X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract Criteria have been defined to quantify a personality characteristic-termed locus of control. The criterion at one extreme of this range was referred to as external, indicating a belief that health was determined by a variety of other factors such as powerful other individuals or by chance. The criterion at the other extreme was termed internal, indicating a belief that health might be modified by the behaviour pattern of the individual. Locus of control scales have been used to relate psychological factors to physical disease, and the response of patients to disease. The aim of the present study was to investigate whether locus of control could be used to anticipate the response of subjects to a plaque control programme.A study was carried out on 14 males and 46 females to investigate the relationship between the multidimensional health locus of control (MHLC) and the response of a group of office workers to a plaque control programme. It was found that there was significant correlation between the external MHLC dimension of powerful others and improvement in some of the clinical criteria; a similar result was found for the internal dimension of the MHLC. In contrast, there was minimal correlation between the external dimension of the MHLC termed chance and the clinical results. It was concluded that subjects who perceive their susceptibility to disease being influenced by powerful external factors or who believe that susceptibility can be controlled by their own actions, respond more positively to a plaque control regime than those subjects who consider that susceptibility to disease is an event of chance.
    Type of Medium: Electronic Resource
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