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Molecular genetic analyses of human NKG2C (KLRC2) gene deletion
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 sys...
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| Published in: | International immunology 2004-01, Vol.16 (1), p.163-168 |
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| container_title | International immunology |
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| creator | Miyashita, Risa Tsuchiya, Naoyuki Hikami, Koki Kuroki, Kimiko Fukazawa, Toru Bijl, Marc Kallenberg, Cees G. M. Hashimoto, Hiroshi Yabe, Toshio Tokunaga, Katsushi |
| description | 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. |
| doi_str_mv | 10.1093/intimm/dxh013 |
| format | article |
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M. ; Hashimoto, Hiroshi ; Yabe, Toshio ; Tokunaga, Katsushi</creator><creatorcontrib>Miyashita, Risa ; Tsuchiya, Naoyuki ; Hikami, Koki ; Kuroki, Kimiko ; Fukazawa, Toru ; Bijl, Marc ; Kallenberg, Cees G. M. ; Hashimoto, Hiroshi ; Yabe, Toshio ; Tokunaga, Katsushi</creatorcontrib><description>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.</description><identifier>ISSN: 0953-8178</identifier><identifier>ISSN: 1460-2377</identifier><identifier>EISSN: 1460-2377</identifier><identifier>DOI: 10.1093/intimm/dxh013</identifier><identifier>PMID: 14688071</identifier><language>eng</language><publisher>England: Oxford University Press</publisher><subject>Adult ; Arthritis, Rheumatoid - epidemiology ; Arthritis, Rheumatoid - genetics ; Base Sequence ; Case-Control Studies ; Gene Deletion ; Genetic Predisposition to Disease ; genome ; Genotype ; Humans ; Japan - epidemiology ; Killer Cells, Natural - physiology ; Linkage Disequilibrium - genetics ; Lupus Erythematosus, Systemic - epidemiology ; Lupus Erythematosus, Systemic - genetics ; Middle Aged ; Molecular Sequence Data ; Netherlands - epidemiology ; NK cell ; NK Cell Lectin-Like Receptor Subfamily C ; Polymerase Chain Reaction ; polymorphism ; Receptors, Immunologic - genetics ; Receptors, Natural Killer Cell ; rheumatoid arthritis ; systemic lupus erythematosus</subject><ispartof>International immunology, 2004-01, Vol.16 (1), p.163-168</ispartof><rights>Copyright Oxford University Press(England) Jan 2004</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c453t-e0aea15d41f7c5e304171edacbd3e83303c66beb86cf3efe5c2b5ee5c8779a843</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,786,790,27957,27958</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14688071$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Miyashita, Risa</creatorcontrib><creatorcontrib>Tsuchiya, Naoyuki</creatorcontrib><creatorcontrib>Hikami, Koki</creatorcontrib><creatorcontrib>Kuroki, Kimiko</creatorcontrib><creatorcontrib>Fukazawa, Toru</creatorcontrib><creatorcontrib>Bijl, Marc</creatorcontrib><creatorcontrib>Kallenberg, Cees G. M.</creatorcontrib><creatorcontrib>Hashimoto, Hiroshi</creatorcontrib><creatorcontrib>Yabe, Toshio</creatorcontrib><creatorcontrib>Tokunaga, Katsushi</creatorcontrib><title>Molecular genetic analyses of human NKG2C (KLRC2) gene deletion</title><title>International immunology</title><addtitle>Int. Immunol</addtitle><description>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.</description><subject>Adult</subject><subject>Arthritis, Rheumatoid - epidemiology</subject><subject>Arthritis, Rheumatoid - genetics</subject><subject>Base Sequence</subject><subject>Case-Control Studies</subject><subject>Gene Deletion</subject><subject>Genetic Predisposition to Disease</subject><subject>genome</subject><subject>Genotype</subject><subject>Humans</subject><subject>Japan - epidemiology</subject><subject>Killer Cells, Natural - physiology</subject><subject>Linkage Disequilibrium - genetics</subject><subject>Lupus Erythematosus, Systemic - epidemiology</subject><subject>Lupus Erythematosus, Systemic - genetics</subject><subject>Middle Aged</subject><subject>Molecular Sequence Data</subject><subject>Netherlands - epidemiology</subject><subject>NK cell</subject><subject>NK Cell Lectin-Like Receptor Subfamily C</subject><subject>Polymerase Chain Reaction</subject><subject>polymorphism</subject><subject>Receptors, Immunologic - genetics</subject><subject>Receptors, Natural Killer Cell</subject><subject>rheumatoid arthritis</subject><subject>systemic lupus erythematosus</subject><issn>0953-8178</issn><issn>1460-2377</issn><issn>1460-2377</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><recordid>eNqF0EtLxDAUhuEgio6jS7dSXIguqic5bZOuROoVxwuiIm5Cmp5qtRdtWtB_b3UGBTeuziIPH-RlbI3DDocYd4u6K6pqN3t_Ao5zbMSDCHyBUs6zEcQh-opLtcSWnXsGABQxLrKlASkFko_Y3nlTku1L03qPVFNXWM_Upvxw5Lwm9576ytTexdmxSLyts8l1Ira_nZdROeCmXmELuSkdrc7umN0eHd4kJ_7k8vg02Z_4Ngix8wkMGR5mAc-lDQkh4JJTZmyaISlEQBtFKaUqsjlSTqEVaUjDUVLGRgU4ZpvT3de2eevJdboqnKWyNDU1vdMKIIoCBf9CHgsQAsUAN_7A56Zvh79_mRB4IIe8Y-ZPkW0b51rK9WtbVKb90Bz0V3897a-n_Qe_Phvt04qyXz0L_jtYuI7ef95N-6IjiTLUJ_cPOoqTq7uD5Ebf4ycgcJA9</recordid><startdate>200401</startdate><enddate>200401</enddate><creator>Miyashita, Risa</creator><creator>Tsuchiya, Naoyuki</creator><creator>Hikami, Koki</creator><creator>Kuroki, Kimiko</creator><creator>Fukazawa, Toru</creator><creator>Bijl, Marc</creator><creator>Kallenberg, Cees G. 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M. ; Hashimoto, Hiroshi ; Yabe, Toshio ; Tokunaga, Katsushi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c453t-e0aea15d41f7c5e304171edacbd3e83303c66beb86cf3efe5c2b5ee5c8779a843</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Adult</topic><topic>Arthritis, Rheumatoid - epidemiology</topic><topic>Arthritis, Rheumatoid - genetics</topic><topic>Base Sequence</topic><topic>Case-Control Studies</topic><topic>Gene Deletion</topic><topic>Genetic Predisposition to Disease</topic><topic>genome</topic><topic>Genotype</topic><topic>Humans</topic><topic>Japan - epidemiology</topic><topic>Killer Cells, Natural - physiology</topic><topic>Linkage Disequilibrium - genetics</topic><topic>Lupus Erythematosus, Systemic - epidemiology</topic><topic>Lupus Erythematosus, Systemic - genetics</topic><topic>Middle Aged</topic><topic>Molecular Sequence Data</topic><topic>Netherlands - epidemiology</topic><topic>NK cell</topic><topic>NK Cell Lectin-Like Receptor Subfamily C</topic><topic>Polymerase Chain Reaction</topic><topic>polymorphism</topic><topic>Receptors, Immunologic - genetics</topic><topic>Receptors, Natural Killer Cell</topic><topic>rheumatoid arthritis</topic><topic>systemic lupus erythematosus</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Miyashita, Risa</creatorcontrib><creatorcontrib>Tsuchiya, Naoyuki</creatorcontrib><creatorcontrib>Hikami, Koki</creatorcontrib><creatorcontrib>Kuroki, Kimiko</creatorcontrib><creatorcontrib>Fukazawa, Toru</creatorcontrib><creatorcontrib>Bijl, Marc</creatorcontrib><creatorcontrib>Kallenberg, Cees G. M.</creatorcontrib><creatorcontrib>Hashimoto, Hiroshi</creatorcontrib><creatorcontrib>Yabe, Toshio</creatorcontrib><creatorcontrib>Tokunaga, Katsushi</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Immunology Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>International immunology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Miyashita, Risa</au><au>Tsuchiya, Naoyuki</au><au>Hikami, Koki</au><au>Kuroki, Kimiko</au><au>Fukazawa, Toru</au><au>Bijl, Marc</au><au>Kallenberg, Cees G. M.</au><au>Hashimoto, Hiroshi</au><au>Yabe, Toshio</au><au>Tokunaga, Katsushi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular genetic analyses of human NKG2C (KLRC2) gene deletion</atitle><jtitle>International immunology</jtitle><addtitle>Int. Immunol</addtitle><date>2004-01</date><risdate>2004</risdate><volume>16</volume><issue>1</issue><spage>163</spage><epage>168</epage><pages>163-168</pages><issn>0953-8178</issn><issn>1460-2377</issn><eissn>1460-2377</eissn><notes>istex:3240EA780021988FC6DFA58C025B35215FB4DF47</notes><notes>ark:/67375/HXZ-69CPVDCT-X</notes><notes>local:dxh013</notes><notes>Correspondence to: N. Tsuchiya; E‐mail: tsuchiya‐tky@umin.ac.jp
Transmitting editor: W. M. Yokoyama</notes><notes>ObjectType-Article-2</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-1</notes><notes>content type line 23</notes><notes>ObjectType-Article-1</notes><notes>ObjectType-Feature-2</notes><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.</abstract><cop>England</cop><pub>Oxford University Press</pub><pmid>14688071</pmid><doi>10.1093/intimm/dxh013</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | International immunology, 2004-01, Vol.16 (1), p.163-168 |
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| source | Oxford Academic Journals (OUP) |
| subjects | Adult Arthritis, Rheumatoid - epidemiology Arthritis, Rheumatoid - genetics Base Sequence Case-Control Studies Gene Deletion Genetic Predisposition to Disease genome Genotype Humans Japan - epidemiology Killer Cells, Natural - physiology Linkage Disequilibrium - genetics Lupus Erythematosus, Systemic - epidemiology Lupus Erythematosus, Systemic - genetics Middle Aged Molecular Sequence Data Netherlands - epidemiology NK cell NK Cell Lectin-Like Receptor Subfamily C Polymerase Chain Reaction polymorphism Receptors, Immunologic - genetics Receptors, Natural Killer Cell rheumatoid arthritis systemic lupus erythematosus |
| title | Molecular genetic analyses of human NKG2C (KLRC2) gene deletion |
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