File Download
  Links for fulltext
     (May Require Subscription)
Supplementary

Article: An extension of the transmission disequilibrium test incorporating imprinting

TitleAn extension of the transmission disequilibrium test incorporating imprinting
Authors
Issue Date2007
PublisherGenetics Society of America. The Journal's web site is located at http://www.genetics.org/contents-by-date.0.shtml
Citation
Genetics, 2007, v. 175 n. 3, p. 1489-1504 How to Cite?
AbstractThe recombination rates in meioses of females and males are often different. Some genes that affect development and behavior in mammals are known to be imprinted, and >1% of all mammalian genes are believed to be imprinted. When the gene is imprinted and the recombination fractions are sex specific, the conventional transmission disequilibrium test (TDT) is shown to be still valid for testing for linkage. The power function of the TDT is derived, and the effect of the degree of imprinting on the power of the TDT is investigated. It is learned that imprinting has little effect on the power when the female and male recombination rates are equal. On the basis of case-parents trios, the transmissions from the heterozygous fathers/ mothers to their affected children are separated as paternal and maternal, and two TDT-like statistics, TDT p and TDTm, are consequently constructed. It is found that the TDTp possesses a higher power than the TDT for maternal imprinting genes, and the TDTm is more powerful than the TDT for paternal imprinting genes. On the basis of the parent-of-origin effects test statistic (POET), a novel statistic, TDT incorporating imprinting (TDTI) is proposed to test for linkage in the presence of linkage disequilibrium, which is shown to be more powerful than the TDT when parent-of-origin effects are significant but slightly less powerful than the TDT when parent-of-origin effects are negligible. The validity of the TDT and TDTI is assessed by simulation. The power approximation formulas for the TDT and TDTI are derived and the simulation results show that they are accurate. The simulation study on power comparison shows that the TDTI outperforms the TDT for imprinted genes. The improvement can be substantial in the case of complete paternal/maternal imprinting. Copyright © 2007 by the Genetics Society of America.
Persistent Identifierhttp://hdl.handle.net/10722/82794
ISSN
2015 Impact Factor: 4.644
2015 SCImago Journal Rankings: 4.270
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorHu, YQen_HK
dc.contributor.authorZhou, JYen_HK
dc.contributor.authorFung, WKen_HK
dc.date.accessioned2010-09-06T08:33:30Z-
dc.date.available2010-09-06T08:33:30Z-
dc.date.issued2007en_HK
dc.identifier.citationGenetics, 2007, v. 175 n. 3, p. 1489-1504en_HK
dc.identifier.issn0016-6731en_HK
dc.identifier.urihttp://hdl.handle.net/10722/82794-
dc.description.abstractThe recombination rates in meioses of females and males are often different. Some genes that affect development and behavior in mammals are known to be imprinted, and >1% of all mammalian genes are believed to be imprinted. When the gene is imprinted and the recombination fractions are sex specific, the conventional transmission disequilibrium test (TDT) is shown to be still valid for testing for linkage. The power function of the TDT is derived, and the effect of the degree of imprinting on the power of the TDT is investigated. It is learned that imprinting has little effect on the power when the female and male recombination rates are equal. On the basis of case-parents trios, the transmissions from the heterozygous fathers/ mothers to their affected children are separated as paternal and maternal, and two TDT-like statistics, TDT p and TDTm, are consequently constructed. It is found that the TDTp possesses a higher power than the TDT for maternal imprinting genes, and the TDTm is more powerful than the TDT for paternal imprinting genes. On the basis of the parent-of-origin effects test statistic (POET), a novel statistic, TDT incorporating imprinting (TDTI) is proposed to test for linkage in the presence of linkage disequilibrium, which is shown to be more powerful than the TDT when parent-of-origin effects are significant but slightly less powerful than the TDT when parent-of-origin effects are negligible. The validity of the TDT and TDTI is assessed by simulation. The power approximation formulas for the TDT and TDTI are derived and the simulation results show that they are accurate. The simulation study on power comparison shows that the TDTI outperforms the TDT for imprinted genes. The improvement can be substantial in the case of complete paternal/maternal imprinting. Copyright © 2007 by the Genetics Society of America.en_HK
dc.languageengen_HK
dc.publisherGenetics Society of America. The Journal's web site is located at http://www.genetics.org/contents-by-date.0.shtmlen_HK
dc.relation.ispartofGeneticsen_HK
dc.titleAn extension of the transmission disequilibrium test incorporating imprintingen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0016-6731&volume=175&spage=1489&epage=1504&date=2007&atitle=An+extension+of+the+transmission+disequilibrium+test+incorporating+imprintingen_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_OA_fulltext-
dc.identifier.doi10.1534/genetics.106.058461en_HK
dc.identifier.pmid17194789-
dc.identifier.pmcidPMC1840072-
dc.identifier.scopuseid_2-s2.0-34249018224en_HK
dc.identifier.hkuros133710en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-34249018224&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume175en_HK
dc.identifier.issue3en_HK
dc.identifier.spage1489en_HK
dc.identifier.epage1504en_HK
dc.identifier.isiWOS:000245590600043-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridHu, YQ=13410089000en_HK
dc.identifier.scopusauthoridZhou, JY=16240300900en_HK
dc.identifier.scopusauthoridFung, WK=13310399400en_HK

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats