A sequencing-based survey of functional APAF1 alleles in a large sample of individuals with affective illness and population controls

2.50
Hdl Handle:
http://hdl.handle.net/2336/90634
Title:
A sequencing-based survey of functional APAF1 alleles in a large sample of individuals with affective illness and population controls
Authors:
Amin, Zenab; Kanarek, Katarzyna; Krupitsky, Evgeny; Walderhaug, Espen; Ilomäki, Risto; Blumberg, Hilary; Price, Lawrence H; Bhagwagar, Zubin; Carpenter, Linda L; Tyrka, Audrey R; Magnusson, Andres; Landrø, Nils Inge; Zvartau, Edwin; Gelernter, Joel; Epperson, C Neill; Räsänen, Pirkko; Siironen, Jari; Lappalainen, Jaakko
Citation:
Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010, 153B(1):332-5
Issue Date:
5-Jan-2010
Abstract:
Rare apoptosis-promoting functional variants in the apoptosis protease activating factor 1 (APAF1) gene were recently reported to co-segregate with major depression in male members of families from Utah. In order to estimate the impact of these variants on risk for major depressive disorder (MDD) in the general population, we surveyed the frequency of the APAF1 putative MDD risk alleles using re-sequencing in a large sample of northern European and European-American subjects, including a large number of males with MDD. The E777K and N782T APAF1 variants previously described by Harlan et al. [Harlan et al. (2006) Mol Psychiatry 11(1):76-85] were found at low frequencies in affected individuals and population controls. The C450W and Q465R variants were not detected in any of the 632 subjects sequenced. These results show that the APAF1 variants associated with risk for MDD in the Utah pedigrees are very rare in Northern European and European-American populations. In addition, the E777K and N782T variants were found at low frequencies both in patients and population controls, suggesting that these variants have limited impact on risk for MDD.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://dx.doi.org/10.1002/ajmg.b.30984

Full metadata record

DC FieldValue Language
dc.contributor.authorAmin, Zenaben
dc.contributor.authorKanarek, Katarzynaen
dc.contributor.authorKrupitsky, Evgenyen
dc.contributor.authorWalderhaug, Espenen
dc.contributor.authorIlomäki, Ristoen
dc.contributor.authorBlumberg, Hilaryen
dc.contributor.authorPrice, Lawrence Hen
dc.contributor.authorBhagwagar, Zubinen
dc.contributor.authorCarpenter, Linda Len
dc.contributor.authorTyrka, Audrey Ren
dc.contributor.authorMagnusson, Andresen
dc.contributor.authorLandrø, Nils Ingeen
dc.contributor.authorZvartau, Edwinen
dc.contributor.authorGelernter, Joelen
dc.contributor.authorEpperson, C Neillen
dc.contributor.authorRäsänen, Pirkkoen
dc.contributor.authorSiironen, Jarien
dc.contributor.authorLappalainen, Jaakkoen
dc.date.accessioned2010-01-26T11:10:02Z-
dc.date.available2010-01-26T11:10:02Z-
dc.date.issued2010-01-05-
dc.date.submitted2010-01-26-
dc.identifier.citationAm. J. Med. Genet. B Neuropsychiatr. Genet. 2010, 153B(1):332-5en
dc.identifier.issn1552-485X-
dc.identifier.pmid19455599-
dc.identifier.doi10.1002/ajmg.b.30984-
dc.identifier.urihttp://hdl.handle.net/2336/90634-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractRare apoptosis-promoting functional variants in the apoptosis protease activating factor 1 (APAF1) gene were recently reported to co-segregate with major depression in male members of families from Utah. In order to estimate the impact of these variants on risk for major depressive disorder (MDD) in the general population, we surveyed the frequency of the APAF1 putative MDD risk alleles using re-sequencing in a large sample of northern European and European-American subjects, including a large number of males with MDD. The E777K and N782T APAF1 variants previously described by Harlan et al. [Harlan et al. (2006) Mol Psychiatry 11(1):76-85] were found at low frequencies in affected individuals and population controls. The C450W and Q465R variants were not detected in any of the 632 subjects sequenced. These results show that the APAF1 variants associated with risk for MDD in the Utah pedigrees are very rare in Northern European and European-American populations. In addition, the E777K and N782T variants were found at low frequencies both in patients and population controls, suggesting that these variants have limited impact on risk for MDD.en
dc.language.isoenen
dc.publisherWiley-Blackwellen
dc.relation.urlhttp://dx.doi.org/10.1002/ajmg.b.30984en
dc.subject.meshDepressionen
dc.subject.otherGeðlæknisfræðiis
dc.titleA sequencing-based survey of functional APAF1 alleles in a large sample of individuals with affective illness and population controlsen
dc.typeArticleen
dc.contributor.departmentDepartment of Psychiatry, Yale University School of Medicine, New Haven, Connecticut, USA.en
dc.identifier.journalAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Geneticsen

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