Association studies of bipolar disorder at the human serotonin transporter gene (hSERT; 5HTT)

Rees, M., Norton, N., Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, McCandless, F., Scourfield, J., Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Moorhead, S., Feldman, E., Sadler, S., Cole, T., Redman, K., Farmer, A., McGuffin, P., Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 1997. Association studies of bipolar disorder at the human serotonin transporter gene (hSERT; 5HTT). Molecular Psychiatry 2 (5) , pp. 398-402. 10.1038/sj.mp.4000256

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Abstract

The human serotonin transporter gene (hSERT) is a strong candidate for involvement in the pathogenesis of mood disorder and, using a UK Caucasian case-control sample, Collier et al found a significant association between bipolar disorder and the 12 allele of the VNTR polymorphism in intron 2 of this gene. In a European collaborative sample, Collier et al found a significant association between affective disorder and a functional deletion polymorphism in the promoter of hSERT. We have undertaken association studies using these polymorphisms in a British Caucasian sample comprising 171 DSM-IV bipolar probands, 80 DSM-IV major depression probands and 121 unrelated controls matched to bipolar probands for age, sex and ethnicity. We found no association between the promoter deletion and affective disorder but our findings with the VNTR polymorphism are similar to those of Collier and colleagues: we found a significant excess of the 12 repeat allele in bipolar probands (P = 0.031, one-tall) with a suggestion of a gene dosage effect (using genotypes bearing no 12 repeat allele as baseline, the increased risks conferred by genotypes bearing 12 repeat alleles were: heterozygote, OR = 1.24; homozygote, OR = 1.76). Our findings add to the evidence that variation at or near hSERT influences susceptibility to bipolar disorder in the British Caucasian population.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine Systems Immunity Research Institute (SIURI) MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > R Medicine (General) R Medicine > RZ Other systems of medicine
Publisher:	Nature Publishing Group
ISSN:	1359-4184
Last Modified:	27 Oct 2022 08:46
URI:	https://orca.cardiff.ac.uk/id/eprint/63366

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