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International Immunology, Vol. 16, No. 1, pp. 163-168, January 2004
© 2004 Japanese Society for Immunology

Molecular genetic analyses of human NKG2C (KLRC2) gene deletion

Risa Miyashita1, Naoyuki Tsuchiya1, Koki Hikami1, Kimiko Kuroki1, Toru Fukazawa2, Marc Bijl3, Cees G. M. Kallenberg3, Hiroshi Hashimoto2, Toshio Yabe4 and Katsushi Tokunaga1

1 Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo 113-0033, Japan 2 Department of Rheumatology and Internal Medicine, Juntendo University, Tokyo 113-8421, Japan 3 University Hospital Groningen, 9713 GZ Groningen, The Netherlands 4 Tokyo Metropolitan Red Cross Blood Center, Tokyo 150-0012, Japan

Correspondence to: N. Tsuchiya; E-mail: tsuchiya-tky{at}umin.ac.jp
Transmitting editor: W. M. Yokoyama

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.

Keywords: genome, NK cell, polymorphism, rheumatoid arthritis, systemic lupus erythematosus


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