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

• Published in: Neuroscience letters 2005-05, Vol.380 (1), p.37-41
• Main Authors: Yan, Jin, Feng, Jinong, Craddock, Nick, Jones, Ian R., Cook, Edwin H., Goldman, David, Heston, Leonard L., Chen, Jiesheng, Burkhart, Patricia, Li, Wenyan, Shibayama, Akane, Sommer, Steve S.
• Format: Article
• Language: English
• Subjects: Adult and adolescent clinical studies; Amino Acid Sequence; Biological and medical sciences; DNA Mutational Analysis - methods; DOVAM-S; Female; Fundamental and applied biological sciences. Psychology; Genetic Variation; Genomics; Genotype; Humans; Male; Medical sciences; Mental Disorders - classification; Mental Disorders - epidemiology; Mental Disorders - genetics; Mutation detection; Mutation, Missense; Pilot Projects; Polymorphism, Single-Stranded Conformational; Population Groups - genetics; Psychiatric diseases; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Psychoses; Receptors, Calcitriol - genetics; Schizophrenia; Schizophrenia - epidemiology; Schizophrenia - genetics; Vertebrates: nervous system and sense organs; Vitamin D receptor
• ISSN: 0304-3940; 1872-7972
• DOI: 10.1016/j.neulet.2005.01.018

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.