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Identification of 45 novel SNPs in the 83-kb region containing peptidylarginine deiminase types 1 and 3 loci on chromosomal band 1p36.13
Authors:Aritoshi?Iida  author-information"  >  author-information__contact u-icon-before"  >  mailto:iidaari@src.riken.go.jp"   title="  iidaari@src.riken.go.jp"   itemprop="  email"   data-track="  click"   data-track-action="  Email author"   data-track-label="  "  >Email author,Yusuke?Nakamura
Affiliation:(1) Laboratory for Pharmacogenetics, Research Group of Personalized Medicine, RIKEN SNP Research Center, c/o RIKEN Yokohama Institute, 1-7-22 Suehiro-cho, Tsurumi, Yokohama, Kanagawa 230-0045, Japan;(2) Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan
Abstract:Peptidylarginine deiminases (PADIs) are post-translational modification enzymes that catalyze the conversion of protein-bound arginine residues into citrulline residues in the presence of calcium ions. Among PADIs, PADI4 was identified as a rheumatoid arthritis-susceptibility gene (Suzuki et al. in Nat Genet 34:395, 2003). We identified a total of 87 single nucleotide polymorphisms (SNPs) in PADI1 and PADI3gene loci. Following a comparison of our data with SNPs in the dbSNP database in the National Center for Biotechnology Information, 45 SNPs are considered to be novel: 33 were identified in the PADI1gene locus and 12 in the PADI3 gene locus. We also identified two insertion–deletion polymorphisms in introns of the PADI1. The high-resolution map that we constructed in this study will serve as a useful resource for analyzing gene scans of complex diseases mapped to this local segment on chromosomal band 1p36.13.
Keywords:Single nucleotide polymorphism (SNP)  Japanese population  High-density SNP map  Rheumatoid arthritis  Peptidylarginine deiminase 1 gene  Peptidylarginine deiminase 3 gene
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