title: Single-nucleotide polymorphisms and copy number variations of theFCGR2AandFCGR3Agenes in healthy Japanese subjects.
abstract: FcγRII and FcγRIII are low-affinity Fcγ receptors that are encoded by theFCGR2AandFCGR3Agenes, respectively. These genes contain functional single-nucleotide polymorphisms (SNPs), which alter the binding affinities of these receptors for the γ chain of the Fc fragment of immunoglobulin G. The known SNPs inFCGR2AandFCGR3Aare rs1801274 (A>G; H131R) and rs396991 (T>G; F158V), respectively. It is also known that there are copy number variations (CNVs) in the genetic locus (1q23) whereFCGR2AandFCGR3Aare located. However, the frequencies of these SNPs and CNVs have not been determined in the Japanese population. The aim of this study was to investigate SNPs and CNVs inFCGR2AandFCGR3Aamong 113 healthy individuals. The SNPs and CNVs inFCGR2AandFCGR3Awere determined using the TaqMan®SNP Genotyping and the TaqMan®Copy Number assays. Our results revealed that the incidence ofFCGR2A(rs1801274) genotypes were as follows: A/A, 69.9%; A/G, 29.2%; and G/G, 0.9%. The incidence of theFCGR3A(rs396991) genotypes were as follows: T/T, 56.7%; T/G, 38.9%; and G/G, 4.4%). No CNVs were detected forFCGR2A. To the best of our knowledge, this finding has not been previously reported in the Japanese population. By contrast, CNVs were observed inFCGR3A(3 subjects were found to harbour a gene deletion and 5 subjects had 3 copies of the gene). Using simple commercially available assays we were able to confirm previous findings regardingFCGR2AandFCGR3Aalleles and CNVs. These assays may provide a basis for the investigation of the role of these genes in the efficacy of antibody-based drugs, such as trastuzumab and rituximab, in Japanese subjects.
authors.affiliation: Department of Pharmacy, Hokkaido Pharmaceutical University School of Pharmacy, Otaru, Hokkaido 047-0264, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Moriya
authors.affiliation: Department of Pharmacy, Hokkaido Pharmaceutical University School of Pharmacy, Otaru, Hokkaido 047-0264, Japan ; Department of Pharmacy, Sapporo Hokuyu Hospital, Sapporo, Hokkaido 003-0006, Japan.
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Saito
authors.affiliation: Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, University of Auckland, Auckland 1142, New Zealand, Japan.
authors.forename: Nuala
authors.initials: N
authors.lastname: Helsby
authors.affiliation: Department of Pharmacy, Hokkaido Pharmaceutical University School of Pharmacy, Otaru, Hokkaido 047-0264, Japan.
authors.forename: Naomi
authors.initials: N
authors.lastname: Hayashi
authors.affiliation: Department of Anesthesiology, Sapporo Medical University School of Medicine, Sapporo, Hokkaido 060-8543, Japan.
authors.forename: Shigekazu
authors.initials: S
authors.lastname: Sugino
authors.affiliation: Department of Anesthesiology, Sapporo Medical University School of Medicine, Sapporo, Hokkaido 060-8543, Japan.
authors.forename: Michiaki
authors.initials: M
authors.lastname: Yamakage
authors.affiliation: Department of Pharmacy, National Hospital Organization Hokkaido Cancer Center, Sapporo, Hokkaido 003-0804, Japan.
authors.forename: Takeru
authors.initials: T
authors.lastname: Sawaguchi
authors.affiliation: Department of Pharmacy, National Hospital Organization Hokkaido Cancer Center, Sapporo, Hokkaido 003-0804, Japan.
authors.forename: Masahiko
authors.initials: M
authors.lastname: Takasaki
authors.affiliation: Department of Breast Surgery, National Hospital Organization Hokkaido Cancer Center, Sapporo, Hokkaido 003-0804, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Takahashi
authors.affiliation: Department of Pharmacy, Hokkaido Pharmaceutical University School of Pharmacy, Otaru, Hokkaido 047-0264, Japan.
authors.forename: Nahoko
authors.initials: N
authors.lastname: Kurosawa
keywords: FCGR2A; FCGR3A; Fcγ receptor; copy number variation; single-nucleotide polymorphism