| Abstract |
Peptidylarginine deiminases (PADIs), five isoforms of which have been identified, catalyze the conversion of arginine residues to citrulline residues in proteins. Recent studies have revealed that abnormal activation ofPADI2, the gene for which is expressed throughout the nervous system, is likely to be related to the pathogenesis of neuropsychiatric diseases with neurodegenerative processes, such as Alzheimer's disease and multiple sclerosis. Such a progressive neurodegenerative process could be involved in the etiology and/or course of精神分裂症, andPADI2may be a candidate gene for精神分裂症. To assess whetherPADI2has a role in vulnerability to精神分裂症, we conducted a two-stage case-control association study in Japanese individuals. In a screening population of 534 patients and 559 control individuals, we examined eight single-nucleotide polymorphisms (SNPs) including four haplotype tag SNPs and four coding SNPs inPADI2. There was a potential association of a synonymous SNP in exon 7 with精神分裂症. However, we could not replicate this association in a confirmatory population of 2126 patients and 2228 control individuals. The results of this study suggest thatPADI2does not contribute to genetic susceptibility to精神分裂症. |