ARVCF
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- 作者：Sergi Mas ; Miquel Bernardo ; Eduard Parellada ; Clemente Garcia-Rizo ; Patricia Gassó ; Santi Á ; lvarez ; Amalia Lafuente
- 关键词：ARVCF ; COMT ; Genetic association study ; Genetic polymorphism ; LD mapping ; Schizophrenia
- 刊名：Progress in Neuro-Psychopharmacology and Biological Psychiatry
- 出版年：2009
- 出版时间：31 August 2009
- 年：2009
- 卷：33
- 期：6
- 页码：1064-1069
- 全文大小：887 K
文摘
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.