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
|
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: | Schools > Medicine Research Institutes & Centres > 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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