| PMID |
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| TITLE |
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| New concepts for distinguishing the hidden patterns of linkage disequilibrium which underlie association between genotypes and complex phenotypes. |
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| ABSTRACT |
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| 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. |
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| DATE PUBLISHED |
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| HISTORY |
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| PUBSTATUS |
PUBSTATUSDATE |
| pubmed |
2005/05/20 09:00 |
| medline |
2005/07/22 09:00 |
| entrez |
2005/05/20 09:00 |
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| AUTHORS |
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| 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 |
|
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| Martin NG |
|
Martin |
Nicholas G |
NG |
|
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| Duffy DL |
|
Duffy |
David L |
DL |
|
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| INVESTIGATORS |
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| JOURNAL |
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| 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 |
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| MEDLINE JOURNAL |
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| MEDLINETA: Twin Res Hum Genet |
| COUNTRY: England |
| ISSNLINKING: 1832-4274 |
| NLMUNIQUEID: 101244624 |
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| PUBLICATION TYPE |
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| PUBLICATIONTYPE TEXT |
| Journal Article |
| Research Support, Non-U.S. Gov't |
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| COMMENTS AND CORRECTIONS |
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| GRANTS |
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| GENERAL NOTE |
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| KEYWORDS |
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| MESH HEADINGS |
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| DESCRIPTORNAME |
QUALIFIERNAME |
| Alleles |
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| 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 |
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| SUPPLEMENTARY MESH |
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| GENE SYMBOLS |
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| CHEMICALS |
|
| REGISTRYNUMBER |
NAMEOFSUBSTANCE |
| 9007-49-2 |
DNA |
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| OTHER ID's |
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