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
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.