A sequencing-based survey of functional APAF1 alleles in a large sample of individuals with affective illness and population controls
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item.
When enough users have cast their vote on this item, the average rating will also be shown.
Your vote was cast
Thank you for your feedback
Thank you for your feedback
Price, Lawrence H
Carpenter, Linda L
Tyrka, Audrey R
Landrø, Nils Inge
Epperson, C Neill
MetadataShow full item record
CitationAm. J. Med. Genet. B Neuropsychiatr. Genet. 2010, 153B(1):332-5
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.
DescriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links field
- Variants in Apaf-1 segregating with major depression promote apoptosome function.
- Authors: Harlan J, Chen Y, Gubbins E, Mueller R, Roch JM, Walter K, Lake M, Olsen T, Metzger P, Dorwin S, Ladror U, Egan DA, Severin J, Johnson RW, Holzman TF, Voelp K, Davenport C, Beck A, Potter J, Gopalakrishnan M, Hahn A, Spear BB, Halbert DN, Sullivan JP, Abkevich V, Neff CD, Skolnick MH, Shattuck D, Katz DA
- Issue date: 2006 Jan
- Tryptophan hydroxylase 2 gene is associated with major depressive disorder in a female Chinese population.
- Authors: Shen X, Wu Y, Qian M, Wang X, Hou Z, Liu Y, Sun J, Zhong H, Yang J, Lin M, Li L, Guan T, Shen Z, Yuan Y
- Issue date: 2011 Oct
- Novel variants in ZNF34 and other brain-expressed transcription factors are shared among early-onset MDD relatives.
- Authors: Subaran RL, Odgerel Z, Swaminathan R, Glatt CE, Weissman MM
- Issue date: 2016 Apr
- Single nucleotide polymorphism analysis of corticotropin-releasing factor-binding protein gene in recurrent major depressive disorder.
- Authors: Van Den Eede F, Venken T, Del-Favero J, Norrback KF, Souery D, Nilsson LG, Van den Bossche B, Hulstijn W, Sabbe BG, Cosyns P, Mendlewicz J, Adolfsson R, Van Broeckhoven C, Claes SJ
- Issue date: 2007 Sep 30
- An inactivating mutation in HDAC2 leads to dysregulation of apoptosis mediated by APAF1.
- Authors: Hanigan CL, Van Engeland M, De Bruine AP, Wouters KA, Weijenberg MP, Eshleman JR, Herman JG
- Issue date: 2008 Nov