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
15901471
TITLE
New concepts for distinguishing the hidden patterns of linkage disequilibrium which underlie association between genotypes and complex phenotypes.
ABSTRACT
A disappointing feature of conventional methods for detecting association between DNA variation and a phenotype of interest is that they tell us little about the hidden pattern of linkage disequilibrium (LD) with the functional variant that is actually responsible for the association. This limitation applies to case-control studies and also to the transmission/disequilibrium test (TDT) and other family-based association methods. Here we present a fresh perspective on genetic association based on two novel concepts called 'LD squares' and 'equirisk alleles'. These describe and characterize the different patterns of gametic LD which underlie genetic association. These concepts lead to a general principle - the Equi-Risk Allele Segregation Principle - which captures the way in which underlying LD patterns affect the transmission patterns of genetic variants associated with a phenotype. This provides a basis for distinguishing the hidden LD patterns and might help to locate the functional variants responsible for the association.
DATE PUBLISHED
2005 Apr
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 2005/05/20 09:00
medline 2005/07/22 09:00
entrez 2005/05/20 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Wicks J Wicks Jacqueline J Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia. jacki@itee.uq.edu.au
Treloar SA Treloar Susan A SA
Martin NG Martin Nicholas G NG
Duffy DL Duffy David L DL
INVESTIGATORS
JOURNAL
VOLUME: 8
ISSUE: 2
TITLE: Twin research and human genetics : the official journal of the International Society for Twin Studies
ISOABBREVIATION: Twin Res Hum Genet
YEAR: 2005
MONTH: Apr
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 1832-4274
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Twin Res Hum Genet
COUNTRY: England
ISSNLINKING: 1832-4274
NLMUNIQUEID: 101244624
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Alleles
DNA genetics
Genetic Linkage genetics
Genetic Variation genetics
Genotype genetics
Germ Cells genetics
Haplotypes genetics
Heredity genetics
Heterozygote genetics
Homozygote genetics
Humans genetics
Linkage Disequilibrium genetics
Phenotype genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
9007-49-2 DNA
OTHER ID's