title: Protein kinase C-beta 1 gene variants are not associated with autism in the Irish population.
abstract: Some evidences indicate that protein kinase C-beta 1 (PRKCB1) gene may be a predisposition locus of autism. A recent study reported evidence of association between autism and two haplotypes made up of six noncoding single nucleotide polymorphisms in the PRKCB1. To attempt replication of their findings, we examined the same six single nucleotide polymorphisms of PRKCB1 in 171 Irish autism trios. The haploview program was used to calculate D' as a measure of linkage disequilibrium. The transmission disequilibrium test for single nucleotide polymorphism markers and haplotypes was carried out using the TDTPHASE and PDTPHASE from the UNPHASED version 2.404 programs. Transmission disequilibrium test analysis showed no evidence of association for any of the six single nucleotide polymorphisms at the PRKCB1 that we studied, or any of their haplotypes. Our data do not support the finding that the PRKCB1 gene variants contribute risk for the development of autism.
authors.affiliation: Department of Psychiatry, Trinity Centre for Health Sciences, St James's Hospital, Dublin, Ireland, and Laboratory of Disorder Genes, Chongqing University of Medical Sciences, Chongqing, PR China. yangm@tcd.ie
authors.forename: Mao S
authors.initials: MS
authors.lastname: Yang
authors.forename: Lynne
authors.initials: L
authors.lastname: Cochrane
authors.forename: Judith
authors.initials: J
authors.lastname: Conroy
authors.forename: Ziarah
authors.initials: Z
authors.lastname: Hawi
authors.forename: Michael
authors.initials: M
authors.lastname: Fitzgerald
authors.forename: Louise
authors.initials: L
authors.lastname: Gallagher
authors.forename: Michael
authors.initials: M
authors.lastname: Gill
mesh_terms: D001321:Autistic Disorder / Q000201:enzymology / Q000235:genetics*; D005190:Family; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007494:Ireland; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011493:Protein Kinase C / Q000235:genetics*; D064546:Protein Kinase C beta
chemical_list: C579054:PRKCB protein, human; D011493:Protein Kinase C; D064546:Protein Kinase C beta