Linked polymorphisms upstream of exons 1 and 2 of the human cholecystokinin gene are not associated with schizophrenia or bipolar disorder

Bowen, Timothy ORCID: https://orcid.org/0000-0001-6050-0435, Norton, N, Jacobsen, N. J., Guy, Carol, Daniels, J. K., Sanders, Rebecca, Cardno, A. G., Jones, L. A., Murphy, Kevin, McGuffin, P, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 1998. Linked polymorphisms upstream of exons 1 and 2 of the human cholecystokinin gene are not associated with schizophrenia or bipolar disorder. Molecular Psychiatry 3 (1) , pp. 67-71. 10.1038/sj.mp.4000293

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Abstract

The evidence for a significant genetic contribution to the functional psychoses (schizophrenia and bipolar disorder) is now well established. However, in both cases, the non-mendelian mode of inheritance has made the identification of susceptibility loci particularly challenging. The neuropeptide cholecystokinin (CCK) is present both in the gut and the CNS. Studies of CCK-like immunoreactivity and CCK mRNA levels in human brains have revealed high concentrations in numerous loci and shown colocalisation of CCK with, for example, dopamine and tyrosine hydroxylase. Furthermore, antagonists of CCK-B receptors, which are found most frequently in the brain, inhibit the activity of brain dopamine neurons. Such findings suggest that, with respect to neuropsychiatric disorders, CCK is a suitable candidate for analysis using methods to detect gene variations which have the potential to affect protein structure or expression. In the present study, mutation analyses were carried out on the human CCK gene. Linked polymorphisms were found in the promoter region and in intron 1 close to the 3' mRNA splice acceptor site. However, the allele frequencies of these polymorphisms in samples of individuals affected with either schizophrenia (n=117) or bipolar disorder (n=124) did not differ from those of control subjects (n=234), suggesting that these variations do not confer a predisposition to either of the functional psychoses.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	Alleles, Alternative Splicing, Base Sequence, Bipolar Disorder / genetics*, Cholecystokinin / biosynthesis, Cholecystokinin / genetics*, Consensus Sequence,Disease Susceptibility, Exons*, Genetic Linkage*, Genotype, Humans, Polymerase Chain Reaction, Polymorphism, Genetic*, Polymorphism, Single-Stranded Conformational, Reference Values, Schizophrenia / genetics* Substances Cholecystokinin
Additional Information:	Publication Types Research Support, Non-U.S. Gov't Grant Support G9309834/Medical Research Council/United Kingdom Wellcome Trust/United Kingdom Full Text Sources EBSCO Other Literature Sources COS Scholar Universe Medical TH Gene - Genetics Home Reference Bipolar Disorder - MedlinePlus Health Information Schizophrenia - MedlinePlus Health Information
Publisher:	Nature Publishing Group
ISSN:	1359-4184
Last Modified:	12 Dec 2022 08:55
URI:	https://orca.cardiff.ac.uk/id/eprint/57975

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