Vitamin D receptor variants in 192 patients with schizophrenia and other psychiatric diseases

Yan, Jin, Feng, Jinong, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Cook, Edwin H., Goldman, David, Heston, Leonard L., Chen, Jiesheng, Burkhart, Patricia, Li, Wenyan, Shibayama, Akane and Sommer, Steve S. 2005. Vitamin D receptor variants in 192 patients with schizophrenia and other psychiatric diseases. Neuroscience Letters 380 (1-2) , pp. 37-41. 10.1016/j.neulet.2005.01.018

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Abstract

Intriguing parallels have been noted previously between the biology of Vitamin D and the epidemiology of schizophrenia. We have scanned the Vitamin D receptor (VDR) gene by DOVAM-S (Detection of Virtually All Mutations-SSCP), a robotically enhanced multiplexed scanning method. In total, 100 patients with schizophrenia (86 Caucasians and 14 African-Americans) were scanned. In addition, pilot experiments were performed in patients with bipolar disorder (BPD) (24), autism (24), attention deficit hyperactivity disorder (ADHD) (24), and alcoholism (20). A total of 762 kb of the VDR genomic sequence was scanned. R208N and V339I were each found in one African-American patient, while absent in 35 African-American controls without schizophrenia (2/14 versus 0/35, P = 0.08). Within the power of the study (≥1.6-fold relative risk), the common M1T variant is not associated with schizophrenia. In the 92 scanned patients with other psychiatric diseases, R173S was found in a single patient with bipolar disorder. In conclusion, we describe three novel structural variants of the Vitamin D receptor. Further study is required to clarify their role, if any, in psychiatric disease.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher:	Elsevier
ISSN:	0304-3940
Last Modified:	27 Oct 2022 08:23
URI:	https://orca.cardiff.ac.uk/id/eprint/62153

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