A two-stage case-control association study of PADI2 with schizophrenia

Yuichiro Watanabe, Ayako Nunokawa, Naoshi Kaneko, Tadao Arinami, Hiroshi Ujike, Toshiya Inada, Nakao Iwata, Hiroshi Kunugi, Masanari Itokawa, Takeshi Otowa, Norio Ozaki, Toshiyuki Someya

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


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 of PADI2, 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 schizophrenia, and PADI2 may be a candidate gene for schizophrenia. To assess whether PADI2 has a role in vulnerability to schizophrenia, 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 in PADI2. There was a potential association of a synonymous SNP in exon 7 with schizophrenia. However, we could not replicate this association in a confirmatory population of 2126 patients and 2228 control individuals. The results of this study suggest that PADI2 does not contribute to genetic susceptibility to schizophrenia.

Original languageEnglish
Pages (from-to)430-432
Number of pages3
JournalJournal of Human Genetics
Issue number7
Publication statusPublished - 07-2009

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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