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Article: The transmission disequilibrium test and imprinting effects test based on case-parent pairs

TitleThe transmission disequilibrium test and imprinting effects test based on case-parent pairs
Authors
KeywordsAssociation study
Case-mother/father
Genomic imprinting
Genotypic relative risk
Linkage analysis
Linkage disequilibrium
Population stratification
Sex-specific recombination fraction
Transmission disequilibrium test (TDT)
Issue Date2007
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/35841
Citation
Genetic Epidemiology, 2007, v. 31 n. 4, p. 273-287 How to Cite?
AbstractThe transmission disequilibrium test (TDT) based on case-parents trios is a powerful tool in linkage analysis and association studies. When only one parent is available, the 1-TDT is applicable in the absence of imprinting. In the presence of imprinting, a statistic is proposed, based on case-mother pairs and case-father pairs to test for linkage when association is present as well as to test for association when linkage is present. The recombination fractions are allowed to be sex-specific in this test statistic. Meanwhile, a statistic based on case-parent pairs is proposed to test for imprinting. Both test statistics can be extended to include families with more than one affected offspring. A number of simulation studies are conducted to investigate the validity of the proposed tests. The effects of different ratios of the numbers of case-mother pairs and case-father pairs on the powers of the proposed tests are studied through simulation. The results show that the optimal ratio is 1:1. How to combine case-parents, case-mother pairs, and case-father pairs jointly in testing for linkage, association, and imprinting is addressed. © 2007 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/82929
ISSN
2015 Impact Factor: 2.553
2015 SCImago Journal Rankings: 2.101
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorHu, YQen_HK
dc.contributor.authorZhou, JYen_HK
dc.contributor.authorSun, Fen_HK
dc.contributor.authorFung, WKen_HK
dc.date.accessioned2010-09-06T08:35:00Z-
dc.date.available2010-09-06T08:35:00Z-
dc.date.issued2007en_HK
dc.identifier.citationGenetic Epidemiology, 2007, v. 31 n. 4, p. 273-287en_HK
dc.identifier.issn0741-0395en_HK
dc.identifier.urihttp://hdl.handle.net/10722/82929-
dc.description.abstractThe transmission disequilibrium test (TDT) based on case-parents trios is a powerful tool in linkage analysis and association studies. When only one parent is available, the 1-TDT is applicable in the absence of imprinting. In the presence of imprinting, a statistic is proposed, based on case-mother pairs and case-father pairs to test for linkage when association is present as well as to test for association when linkage is present. The recombination fractions are allowed to be sex-specific in this test statistic. Meanwhile, a statistic based on case-parent pairs is proposed to test for imprinting. Both test statistics can be extended to include families with more than one affected offspring. A number of simulation studies are conducted to investigate the validity of the proposed tests. The effects of different ratios of the numbers of case-mother pairs and case-father pairs on the powers of the proposed tests are studied through simulation. The results show that the optimal ratio is 1:1. How to combine case-parents, case-mother pairs, and case-father pairs jointly in testing for linkage, association, and imprinting is addressed. © 2007 Wiley-Liss, Inc.en_HK
dc.languageengen_HK
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/35841en_HK
dc.relation.ispartofGenetic Epidemiologyen_HK
dc.rightsGenetic Epidemiology. Copyright © John Wiley & Sons, Inc.en_HK
dc.subjectAssociation studyen_HK
dc.subjectCase-mother/fatheren_HK
dc.subjectGenomic imprintingen_HK
dc.subjectGenotypic relative risken_HK
dc.subjectLinkage analysisen_HK
dc.subjectLinkage disequilibriumen_HK
dc.subjectPopulation stratificationen_HK
dc.subjectSex-specific recombination fractionen_HK
dc.subjectTransmission disequilibrium test (TDT)en_HK
dc.subject.meshComputer Simulation-
dc.subject.meshGenetic Techniques-
dc.subject.meshGenomic Imprinting-
dc.subject.meshLinkage Disequilibrium-
dc.subject.meshParents-
dc.titleThe transmission disequilibrium test and imprinting effects test based on case-parent pairsen_HK
dc.typeArticleen_HK
dc.identifier.emailHu, YQ: yqhu@hku.hken_HK
dc.identifier.emailFung, WK: wingfung@hku.hken_HK
dc.identifier.authorityHu, YQ=rp00708en_HK
dc.identifier.authorityFung, WK=rp00696en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/gepi.20208en_HK
dc.identifier.pmid17266118-
dc.identifier.scopuseid_2-s2.0-34247325937en_HK
dc.identifier.hkuros133711en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-34247325937&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume31en_HK
dc.identifier.issue4en_HK
dc.identifier.spage273en_HK
dc.identifier.epage287en_HK
dc.identifier.isiWOS:000245824200001-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridHu, YQ=13410089000en_HK
dc.identifier.scopusauthoridZhou, JY=16240300900en_HK
dc.identifier.scopusauthoridSun, F=7401804190en_HK
dc.identifier.scopusauthoridFung, WK=13310399400en_HK

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