Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
16967484
TITLE
Effects of SCA1, MJD, and DPRLA triplet repeat polymorphisms on cognitive phenotypes in a normal population of adolescent twins.
ABSTRACT
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.
DATE PUBLISHED
2007 Jan 5
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 2006/09/13 09:00
medline 2007/02/28 09:00
entrez 2006/09/13 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Luciano M Luciano M M Queensland Institute of Medical Research, Brisbane, Australia. michelle.luciano@qimr.edu.au
Hine E Hine E E
Wright MJ Wright M J MJ
Duffy DL Duffy D L DL
MacMillan J MacMillan J J
Martin NG Martin N G NG
INVESTIGATORS
JOURNAL
VOLUME: 144B
ISSUE: 1
TITLE: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
ISOABBREVIATION: Am. J. Med. Genet. B Neuropsychiatr. Genet.
YEAR: 2007
MONTH: Jan
DAY: 5
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 1552-4841
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Am J Med Genet B Neuropsychiatr Genet
COUNTRY: United States
ISSNLINKING: 1552-4841
NLMUNIQUEID: 101235742
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Cognition
Diseases in Twins psychology
Female psychology
Genetic Linkage psychology
Humans psychology
Intelligence genetics
Machado-Joseph Disease psychology
Male psychology
Myoclonic Epilepsies, Progressive psychology
Nerve Tissue Proteins genetics
Nuclear Proteins genetics
Phenotype genetics
Reading genetics
Repressor Proteins genetics
Spinocerebellar Ataxias psychology
Trinucleotide Repeat Expansion psychology
Twins, Dizygotic psychology
Twins, Monozygotic psychology
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Nerve Tissue Proteins
0 Nuclear Proteins
0 Repressor Proteins
0 ataxin-1
EC 3.4.22.- ATXN3 protein, human
OTHER ID's