title: ARVCF single marker and haplotypic association with schizophrenia.
abstract: We present a schizophrenia association study using an extensive linkage disequilibrium (LD) mapping approach in seven candidate genes with a well established link to dopamine, including receptors (DRD2, DRD3) and genes involved in its metabolism and transport (ACE, COMT, DAT, MAO-A, MAO-B). The sample included 242 subjects diagnosed with schizophrenia and related disorders and 373 hospital-based controls. 84 tag SNPs in candidate genes were genotyped. After extensive data cleaning 70 SNPs were analyzed for association of single markers and haplotypes. One block of four SNPs (rs165849, rs2518823, rs887199 and rs2239395) in the 3' downstream region of the COMT gene which included a non-dopaminergic candidate gene, the ARVCF (Armadillo like VeloCardio Facial) gene, was associated with the risk of schizophrenia. The genetic region including the ARVCF gene in the 22q11.21 chromosome is associated with schizophrenia in a Spanish series. Our results will assist in the interpretation of the controversy generated by genetic associations of COMT and schizophrenia, which could be the result of different LD patterns between COMT markers and the 3' region of the ARVCF gene.
authors.affiliation: Department of Anatomic Pathology, Pharmacology and Microbiology, University of Barcelona, Casanova 143, E-08036 Barcelona, Spain.
authors.forename: Sergi
authors.initials: S
authors.lastname: Mas
authors.forename: Miquel
authors.initials: M
authors.lastname: Bernardo
authors.forename: Eduard
authors.initials: E
authors.lastname: Parellada
authors.forename: Clemente
authors.initials: C
authors.lastname: Garcia-Rizo
authors.forename: Patricia
authors.initials: P
authors.lastname: Gassó
authors.forename: Santi
authors.initials: S
authors.lastname: Alvarez
authors.forename: Amalia
authors.initials: A
authors.lastname: Lafuente
mesh_terms: D000328:Adult; D051186:Armadillo Domain Proteins / Q000235:genetics*; D002394:Catechol O-Methyltransferase / Q000235:genetics; D015815:Cell Adhesion Molecules / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010750:Phosphoproteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012559:Schizophrenia / Q000235:genetics*; D055815:Young Adult
chemical_list: C411307:ARVCF protein, human; D051186:Armadillo Domain Proteins; D015815:Cell Adhesion Molecules; D005819:Genetic Markers; D010750:Phosphoproteins; D002394:Catechol O-Methyltransferase