title: Molecular genetic analyses of human NKG2C (KLRC2) gene deletion.
abstract: Human NKG2A, NKG2C and NKG2E genes are located on 12p13 in the NK gene complex. We recently identified deletion of NKG2C in a Japanese population. This study was performed to identify the breakpoint, and to examine the association of NKG2C deletion with susceptibility to rheumatoid arthritis and systemic lupus erythematosus. The location of the breakpoint was determined to be 1.5-1.8 kb telomeric from the 3' end of NKG2A by comparing sequences of the intergenic segments upstream and downstream of the NKG2C gene in the common haplotype with the intergenic sequence between NKG2A and NKG2E in the deletion haplotype. Based on this information, a genotyping system was developed. The frequency of NKG2C deletion haplotype was 20.2% in Japanese and 20.0% in Dutch populations. The frequency of homozygous deletion was 4.1% in Japanese and 3.8% in Dutch. Evidence for an association with rheumatic diseases was not detected. These results indicated that NKG2C deletion is commonly present in Japanese and Dutch, suggesting that NKG2C is not essential for survival and reproduction, and is not associated with rheumatic diseases.
authors.affiliation: Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo 113-0033, Japan.
authors.forename: Risa
authors.initials: R
authors.lastname: Miyashita
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Tsuchiya
authors.forename: Koki
authors.initials: K
authors.lastname: Hikami
authors.forename: Kimiko
authors.initials: K
authors.lastname: Kuroki
authors.forename: Toru
authors.initials: T
authors.lastname: Fukazawa
authors.forename: Marc
authors.initials: M
authors.lastname: Bijl
authors.forename: Cees G M
authors.initials: CG
authors.lastname: Kallenberg
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Hashimoto
authors.forename: Toshio
authors.initials: T
authors.lastname: Yabe
authors.forename: Katsushi
authors.initials: K
authors.lastname: Tokunaga
mesh_terms: D000328:Adult; D001172:Arthritis, Rheumatoid / Q000453:epidemiology / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007564:Japan / Q000453:epidemiology; D007694:Killer Cells, Natural / Q000502:physiology*; D015810:Linkage Disequilibrium / Q000235:genetics; D008180:Lupus Erythematosus, Systemic / Q000453:epidemiology / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D055654:NK Cell Lectin-Like Receptor Subfamily C; D009426:Netherlands / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D011971:Receptors, Immunologic / Q000235:genetics*; D055607:Receptors, Natural Killer Cell
chemical_list: C527054:KLRC1 protein, human; C527059:KLRC2 protein, human; C527062:KLRC3 protein, human; D055654:NK Cell Lectin-Like Receptor Subfamily C; D011971:Receptors, Immunologic; D055607:Receptors, Natural Killer Cell