Identification of 45 novel SNPs in the 83-kb region containing peptidylarginine deiminase types 1 and 3 loci on chromosomal band 1p36.13

被引:0
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作者
Aritoshi Iida
Yusuke Nakamura
机构
[1] RIKEN SNP Research Center,Laboratory for Pharmacogenetics, Research Group of Personalized Medicine
[2] The University of Tokyo,Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science
来源
Journal of Human Genetics | 2004年 / 49卷
关键词
Single nucleotide polymorphism (SNP); Japanese population; High-density SNP map; Rheumatoid arthritis; Peptidylarginine deiminase 1 gene; Peptidylarginine deiminase 3 gene;
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摘要
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 PADI3 gene 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 PADI1 gene 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.
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页码:387 / 390
页数:3
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