ARVCF single marker and haplotypic association with schizophrenia

作者：Mas Sergi; Bernardo Miquel; Parellada Eduard; Garcia Rizo Clemente; Gasso Patricia; Alvarez Santi; Lafuente Amalia^*

来源：Progress in Neuro-Psychopharmacology and Biological Psychiatry, 2009, 33(6): 1064-1069.

DOI：10.1016/j.pnpbp.2009.06.001

• ARVCF
• COMT
• Genetic association study
• Genetic polymorphism
• LD mapping
• Schizophrenia

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 31 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.

• 出版日期2009-8-31