CILIARY NEUROTROPHIC FACTOR NULL ALLELE FREQUENCIES IN SCHIZOPHRENIA,AFFECTIVE-DISORDERS, AND ALZHEIMERS-DISEASE

Citation
J. Gelernter et al., CILIARY NEUROTROPHIC FACTOR NULL ALLELE FREQUENCIES IN SCHIZOPHRENIA,AFFECTIVE-DISORDERS, AND ALZHEIMERS-DISEASE, American journal of medical genetics, 74(5), 1997, pp. 497-500
Citations number
22
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
74
Issue
5
Year of publication
1997
Pages
497 - 500
Database
ISI
SICI code
0148-7299(1997)74:5<497:CNFNAF>2.0.ZU;2-#
Abstract
Ciliary neurotrophic factor (CNTF) is a cytokine that has been reporte d to affect cellular differentiation. Mouse CNTF knockouts have progre ssive motor neuron atrophy, but this protein has uncertain physiologic al function in humans, A naturally occurring CNTF variant in man, obse rved in many populations, abolishes function of the protein product, p roviding the opportunity to study loss of CNTF function in humans, It has been reported previously that this variant does not predispose to several neurological and neuropsychiatric disorders, including Alzheim er's disease, but findings have been more ambiguous with respect to ot her conditions, such as schizophrenia, We report here allele frequenci es for this null mutation in populations diagnosed with mood disorders (unipolar depression, single episode or recurrent; N = 59), schizophr enia (N = 66), or Alzheimer's disease (N = 93), We found no associatio n of the CNTF null with any of these phenotypes, There is presently no known phenotype consistently associated with either heterozygosity or homozygosity for the CNTF null allele, suggesting either that this pr otein does not serve a necessary function in humans or is redundant wi th some other protein or any human phenotype associated with absence o f CNTF is considerably more subtle than that seen in mouse, (C) 1997 W iley-Liss, Inc.