Document Detail


Effects of SCA1, MJD, and DPRLA triplet repeat polymorphisms on cognitive phenotypes in a normal population of adolescent twins.
MedLine Citation:
PMID:  16967484     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The expansion of unstable trinucleotide CAG repeat polymorphisms of a number of genes causes several neurodegenerative disorders with decreased cognitive function, the severity of the disorder being related to allele length at the triplet repeat locus. While the effects of repeat length have been well studied in clinical samples, there has been little investigation of the effects of triplet repeat variation in the normal range for these genes. We have, therefore, examined linkage and association for three CAG triplet repeat markers (Spinocerebellar Ataxia Type 1, SCA1; Machado-Joseph Disease, MJD; Dentatorubro-pallidoluysian Atrophy, DRPLA) to assess their contribution to variation in cognitive ability (IQ, reading ability, processing speed) in a normal, unselected sample of adolescent twins (248 dizygotic (DZ) sibling pairs, aged 16 years). Association tests, performed in Mx and QTDT, showed a consistent positive association of SCA1 with Arithmetic (P = 0.04). While association was supported between SCA1 and Cambridge reading scores and between DRPLA and inspection time, results were inconsistent across software packages. Given the number of statistical tests performed, it is unlikely that trinucleotide repeat variation in the normal range for these genes influences variation in normal cognition.
Authors:
M Luciano; E Hine; M J Wright; D L Duffy; J MacMillan; N G Martin
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics     Volume:  144B     ISSN:  1552-4841     ISO Abbreviation:  Am. J. Med. Genet. B Neuropsychiatr. Genet.     Publication Date:  2007 Jan 
Date Detail:
Created Date:  2006-12-27     Completed Date:  2007-02-27     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235742     Medline TA:  Am J Med Genet B Neuropsychiatr Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  95-100     Citation Subset:  IM    
Affiliation:
Queensland Institute of Medical Research, Brisbane, Australia. michelle.luciano@qimr.edu.au
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Cognition*
Diseases in Twins / genetics,  psychology
Female
Humans
Intelligence / genetics
Linkage (Genetics)
Machado-Joseph Disease / genetics,  psychology
Male
Myoclonic Epilepsies, Progressive / genetics,  psychology
Nerve Tissue Proteins / genetics*
Nuclear Proteins / genetics*
Phenotype
Reading
Repressor Proteins / genetics*
Spinocerebellar Ataxias / genetics,  psychology
Trinucleotide Repeat Expansion
Twins, Dizygotic
Twins, Monozygotic
Chemical
Reg. No./Substance:
0/Nerve Tissue Proteins; 0/Nuclear Proteins; 0/Repressor Proteins; 0/ataxin-1; EC 3.4.22.-/ATXN3 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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