title: Vitamin D receptor variants in 192 patients with schizophrenia and other psychiatric diseases.
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 (> or =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.
authors.affiliation: Department of Molecular Genetics and Molecular Diagnosis, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA.
authors.forename: Jin
authors.initials: J
authors.lastname: Yan
authors.forename: Jinong
authors.initials: J
authors.lastname: Feng
authors.forename: Nick
authors.initials: N
authors.lastname: Craddock
authors.forename: Ian R
authors.initials: IR
authors.lastname: Jones
authors.forename: Edwin H
authors.initials: EH
authors.lastname: Cook
authors.forename: David
authors.initials: D
authors.lastname: Goldman
authors.forename: Leonard L
authors.initials: LL
authors.lastname: Heston
authors.forename: Jiesheng
authors.initials: J
authors.lastname: Chen
authors.forename: Patricia
authors.initials: P
authors.lastname: Burkhart
authors.forename: Wenyan
authors.initials: W
authors.lastname: Li
authors.forename: Akane
authors.initials: A
authors.lastname: Shibayama
authors.forename: Steve S
authors.initials: SS
authors.lastname: Sommer
mesh_terms: D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D014644:Genetic Variation; D023281:Genomics; D005838:Genotype; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D020125:Mutation, Missense; D010865:Pilot Projects; D018807:Polymorphism, Single-Stranded Conformational; D044382:Population Groups / Q000235:genetics; D018167:Receptors, Calcitriol / Q000235:genetics*; D012559:Schizophrenia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol