Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A29-positive individuals
Birdshot chorioretinopathy (BCR), a chronic ocular inflammatory disease with characteristic choroidal lymphocytic infiltrates, has been strongly associated with human leukocyte antigen (HLA)-A29. Although HLA-A29 occurs frequently in all populations, BCR affects only a small percentage of HLA-A29-po...
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| Veröffentlicht in: | Genes and immunity 2008-04, Vol.9 (3), p.249-258 |
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| creator | Levinson, R D Du, Z Luo, L Monnet, D Tabary, T Brezin, A P Zhao, L Gjertson, D W Holland, G N Reed, E F Cohen, J H M Rajalingam, R |
| description | Birdshot chorioretinopathy (BCR), a chronic ocular inflammatory disease with characteristic choroidal lymphocytic infiltrates, has been strongly associated with human leukocyte antigen (HLA)-A29. Although HLA-A29 occurs frequently in all populations, BCR affects only a small percentage of HLA-A29-positive Caucasians, indicating additional susceptibility factors for BCR. Discovery of HLA class I-specific killer cell immunoglobulin-like receptors (KIR) led to a series of epidemiological studies implicating
KIR–HLA
gene combinations in disease. Here, we characterized
KIR–HLA
pairs in BCR patients and controls carrying
HLA-A*29
as well as controls lacking
HLA-A*29
.
KIR–HLA
pairs implicated for weak inhibition (
KIR2DL2/3+HLA-C1
and
KIR3DL1+HLA-Bw4
T80
) in combination with activating
KIR
genes associated with autoimmunity (
KIR2DS2
,
2DS3
and
2DS4
) augment the risk of developing BCR in
HLA-A*29
-positive individuals. The reciprocal association of strong inhibitory pairs (
KIR3DL1+HLA-Bw4
I80
and
KIR2DL1+HLA-C2
) in combination with those implicated in protection from infection (
KIR3DS1+HLA-Bw4
I80
and
KIR2DS1+HLA-C2
) was observed in
HLA-A*29
-negative controls. These results suggest that a profound effect of KIR2DS2/S3/S4 in the absence of strong inhibition may enhance the activation of natural killer cells and T-cell subsets against intraocular self-antigens, thereby contributing to pathogenesis of BCR. |
| doi_str_mv | 10.1038/gene.2008.13 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_proqu</sourceid><recordid>TN_cdi_proquest_miscellaneous_69124995</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A179615677</galeid><sourcerecordid>A179615677</sourcerecordid><originalsourceid>FETCH-LOGICAL-c552t-a61646ecda86921b536c2f4c674ebc76c97c5e9f548ee6d11c4f9a8560877e2c3</originalsourceid><addsrcrecordid>eNqFktGLEzEQxhdRvPP0zWdZFATBrUk2m2QfS1GvWBBOfQ5pdnabs5v0kmzxnv3HTWihVE4kDzNMfvPNDHxF8RKjGUa1-DCAhRlBSMxw_ai4xJSzqqEcPc45YxUVvL0onoVwixBmmLVPiwssaopqhi6L3ws3ro1V0Thbur78srwple3K69W8zMrlXnmjbAylmoYRchI3UHoTfma8gz1s3c7YoVwb34WNi6XeOG-ch2is26m4uS-NzXrVnLTVzgUTzR5SrTN7001qG54XT_oU4MUxXhU_Pn38vriuVl8_LxfzVaWbhsRKpeUpA90pwVqC103NNOmpZpzCWnOmW64baPuGCgDWYaxp3yrRMCQ4B6Lrq-LtQXfn3d0EIcrRBA3brbLgpiBZiwlt2-a_IEGcC0JxAt_8Bd66ydt0hCSMYk4EazL1-p8UFiINFPVJalBbkMb2Lnql81w5x7xluGGcJ2r2AJVeB6PRzkJvUv2s4d1ZQ2Ii_IqDmkKQy2835-z7A6u9C8FDL3fejMrfS4xk9prMjpDZaxLnjV8dz5rWI3Qn-GiuBFQHIKQvO4A_3f2g4B_ukdu-</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>218895383</pqid></control><display><type>article</type><title>Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A29-positive individuals</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>SpringerLink Journals - AutoHoldings</source><creator>Levinson, R D ; Du, Z ; Luo, L ; Monnet, D ; Tabary, T ; Brezin, A P ; Zhao, L ; Gjertson, D W ; Holland, G N ; Reed, E F ; Cohen, J H M ; Rajalingam, R</creator><creatorcontrib>Levinson, R D ; Du, Z ; Luo, L ; Monnet, D ; Tabary, T ; Brezin, A P ; Zhao, L ; Gjertson, D W ; Holland, G N ; Reed, E F ; Cohen, J H M ; Rajalingam, R</creatorcontrib><description>Birdshot chorioretinopathy (BCR), a chronic ocular inflammatory disease with characteristic choroidal lymphocytic infiltrates, has been strongly associated with human leukocyte antigen (HLA)-A29. Although HLA-A29 occurs frequently in all populations, BCR affects only a small percentage of HLA-A29-positive Caucasians, indicating additional susceptibility factors for BCR. Discovery of HLA class I-specific killer cell immunoglobulin-like receptors (KIR) led to a series of epidemiological studies implicating
KIR–HLA
gene combinations in disease. Here, we characterized
KIR–HLA
pairs in BCR patients and controls carrying
HLA-A*29
as well as controls lacking
HLA-A*29
.
KIR–HLA
pairs implicated for weak inhibition (
KIR2DL2/3+HLA-C1
and
KIR3DL1+HLA-Bw4
T80
) in combination with activating
KIR
genes associated with autoimmunity (
KIR2DS2
,
2DS3
and
2DS4
) augment the risk of developing BCR in
HLA-A*29
-positive individuals. The reciprocal association of strong inhibitory pairs (
KIR3DL1+HLA-Bw4
I80
and
KIR2DL1+HLA-C2
) in combination with those implicated in protection from infection (
KIR3DS1+HLA-Bw4
I80
and
KIR2DS1+HLA-C2
) was observed in
HLA-A*29
-negative controls. These results suggest that a profound effect of KIR2DS2/S3/S4 in the absence of strong inhibition may enhance the activation of natural killer cells and T-cell subsets against intraocular self-antigens, thereby contributing to pathogenesis of BCR.</description><identifier>ISSN: 1466-4879</identifier><identifier>EISSN: 1476-5470</identifier><identifier>DOI: 10.1038/gene.2008.13</identifier><identifier>PMID: 18340360</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Antigens ; Autoantigens ; Autoimmunity ; Autoimmunity - genetics ; Autoimmunity - immunology ; Base Sequence ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Cell activation ; Chorioretinitis - genetics ; Chorioretinitis - immunology ; Diagnosis ; Epidemiology ; European Continental Ancestry Group - genetics ; France ; Gene Expression ; Gene Expression Regulation - genetics ; Gene Expression Regulation - immunology ; Genetic aspects ; Genetic Predisposition to Disease - genetics ; Genotype ; Health aspects ; Histocompatibility antigen HLA ; Histocompatibility antigens ; HLA histocompatibility antigens ; HLA-A Antigens - genetics ; HLA-A Antigens - immunology ; Human Genetics ; Humans ; Immunoglobulin-like receptors ; Immunology ; Inflammatory diseases ; Killer cell immunoglobulin-like receptors ; Killer Cells, Natural - immunology ; Killer Cells, Natural - metabolism ; Lymphocytes T ; Molecular Sequence Data ; Natural killer cells ; original-article ; Potassium channels (inwardly-rectifying) ; Receptors, KIR - genetics ; Receptors, KIR - immunology ; Receptors, KIR3DL1 - genetics ; Retinal diseases ; Risk factors ; Sequence Analysis, DNA ; Susceptibility</subject><ispartof>Genes and immunity, 2008-04, Vol.9 (3), p.249-258</ispartof><rights>Springer Nature Limited 2008</rights><rights>COPYRIGHT 2008 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Apr 2008</rights><rights>Nature Publishing Group 2008.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c552t-a61646ecda86921b536c2f4c674ebc76c97c5e9f548ee6d11c4f9a8560877e2c3</citedby><cites>FETCH-LOGICAL-c552t-a61646ecda86921b536c2f4c674ebc76c97c5e9f548ee6d11c4f9a8560877e2c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/gene.2008.13$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/gene.2008.13$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18340360$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Levinson, R D</creatorcontrib><creatorcontrib>Du, Z</creatorcontrib><creatorcontrib>Luo, L</creatorcontrib><creatorcontrib>Monnet, D</creatorcontrib><creatorcontrib>Tabary, T</creatorcontrib><creatorcontrib>Brezin, A P</creatorcontrib><creatorcontrib>Zhao, L</creatorcontrib><creatorcontrib>Gjertson, D W</creatorcontrib><creatorcontrib>Holland, G N</creatorcontrib><creatorcontrib>Reed, E F</creatorcontrib><creatorcontrib>Cohen, J H M</creatorcontrib><creatorcontrib>Rajalingam, R</creatorcontrib><title>Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A29-positive individuals</title><title>Genes and immunity</title><addtitle>Genes Immun</addtitle><addtitle>Genes Immun</addtitle><description>Birdshot chorioretinopathy (BCR), a chronic ocular inflammatory disease with characteristic choroidal lymphocytic infiltrates, has been strongly associated with human leukocyte antigen (HLA)-A29. Although HLA-A29 occurs frequently in all populations, BCR affects only a small percentage of HLA-A29-positive Caucasians, indicating additional susceptibility factors for BCR. Discovery of HLA class I-specific killer cell immunoglobulin-like receptors (KIR) led to a series of epidemiological studies implicating
KIR–HLA
gene combinations in disease. Here, we characterized
KIR–HLA
pairs in BCR patients and controls carrying
HLA-A*29
as well as controls lacking
HLA-A*29
.
KIR–HLA
pairs implicated for weak inhibition (
KIR2DL2/3+HLA-C1
and
KIR3DL1+HLA-Bw4
T80
) in combination with activating
KIR
genes associated with autoimmunity (
KIR2DS2
,
2DS3
and
2DS4
) augment the risk of developing BCR in
HLA-A*29
-positive individuals. The reciprocal association of strong inhibitory pairs (
KIR3DL1+HLA-Bw4
I80
and
KIR2DL1+HLA-C2
) in combination with those implicated in protection from infection (
KIR3DS1+HLA-Bw4
I80
and
KIR2DS1+HLA-C2
) was observed in
HLA-A*29
-negative controls. These results suggest that a profound effect of KIR2DS2/S3/S4 in the absence of strong inhibition may enhance the activation of natural killer cells and T-cell subsets against intraocular self-antigens, thereby contributing to pathogenesis of BCR.</description><subject>Antigens</subject><subject>Autoantigens</subject><subject>Autoimmunity</subject><subject>Autoimmunity - genetics</subject><subject>Autoimmunity - immunology</subject><subject>Base Sequence</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Cell activation</subject><subject>Chorioretinitis - genetics</subject><subject>Chorioretinitis - immunology</subject><subject>Diagnosis</subject><subject>Epidemiology</subject><subject>European Continental Ancestry Group - genetics</subject><subject>France</subject><subject>Gene Expression</subject><subject>Gene Expression Regulation - genetics</subject><subject>Gene Expression Regulation - immunology</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genotype</subject><subject>Health aspects</subject><subject>Histocompatibility antigen HLA</subject><subject>Histocompatibility antigens</subject><subject>HLA histocompatibility antigens</subject><subject>HLA-A Antigens - genetics</subject><subject>HLA-A Antigens - immunology</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Immunoglobulin-like receptors</subject><subject>Immunology</subject><subject>Inflammatory diseases</subject><subject>Killer cell immunoglobulin-like receptors</subject><subject>Killer Cells, Natural - immunology</subject><subject>Killer Cells, Natural - metabolism</subject><subject>Lymphocytes T</subject><subject>Molecular Sequence Data</subject><subject>Natural killer cells</subject><subject>original-article</subject><subject>Potassium channels (inwardly-rectifying)</subject><subject>Receptors, KIR - genetics</subject><subject>Receptors, KIR - immunology</subject><subject>Receptors, KIR3DL1 - genetics</subject><subject>Retinal diseases</subject><subject>Risk factors</subject><subject>Sequence Analysis, DNA</subject><subject>Susceptibility</subject><issn>1466-4879</issn><issn>1476-5470</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFktGLEzEQxhdRvPP0zWdZFATBrUk2m2QfS1GvWBBOfQ5pdnabs5v0kmzxnv3HTWihVE4kDzNMfvPNDHxF8RKjGUa1-DCAhRlBSMxw_ai4xJSzqqEcPc45YxUVvL0onoVwixBmmLVPiwssaopqhi6L3ws3ro1V0Thbur78srwple3K69W8zMrlXnmjbAylmoYRchI3UHoTfma8gz1s3c7YoVwb34WNi6XeOG-ch2is26m4uS-NzXrVnLTVzgUTzR5SrTN7001qG54XT_oU4MUxXhU_Pn38vriuVl8_LxfzVaWbhsRKpeUpA90pwVqC103NNOmpZpzCWnOmW64baPuGCgDWYaxp3yrRMCQ4B6Lrq-LtQXfn3d0EIcrRBA3brbLgpiBZiwlt2-a_IEGcC0JxAt_8Bd66ydt0hCSMYk4EazL1-p8UFiINFPVJalBbkMb2Lnql81w5x7xluGGcJ2r2AJVeB6PRzkJvUv2s4d1ZQ2Ii_IqDmkKQy2835-z7A6u9C8FDL3fejMrfS4xk9prMjpDZaxLnjV8dz5rWI3Qn-GiuBFQHIKQvO4A_3f2g4B_ukdu-</recordid><startdate>20080401</startdate><enddate>20080401</enddate><creator>Levinson, R D</creator><creator>Du, Z</creator><creator>Luo, L</creator><creator>Monnet, D</creator><creator>Tabary, T</creator><creator>Brezin, A P</creator><creator>Zhao, L</creator><creator>Gjertson, D W</creator><creator>Holland, G N</creator><creator>Reed, E F</creator><creator>Cohen, J H M</creator><creator>Rajalingam, R</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>ISR</scope><scope>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20080401</creationdate><title>Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A29-positive individuals</title><author>Levinson, R D ; Du, Z ; Luo, L ; Monnet, D ; Tabary, T ; Brezin, A P ; Zhao, L ; Gjertson, D W ; Holland, G N ; Reed, E F ; Cohen, J H M ; Rajalingam, R</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c552t-a61646ecda86921b536c2f4c674ebc76c97c5e9f548ee6d11c4f9a8560877e2c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Antigens</topic><topic>Autoantigens</topic><topic>Autoimmunity</topic><topic>Autoimmunity - genetics</topic><topic>Autoimmunity - immunology</topic><topic>Base Sequence</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Cell activation</topic><topic>Chorioretinitis - genetics</topic><topic>Chorioretinitis - immunology</topic><topic>Diagnosis</topic><topic>Epidemiology</topic><topic>European Continental Ancestry Group - genetics</topic><topic>France</topic><topic>Gene Expression</topic><topic>Gene Expression Regulation - genetics</topic><topic>Gene Expression Regulation - immunology</topic><topic>Genetic aspects</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genotype</topic><topic>Health aspects</topic><topic>Histocompatibility antigen HLA</topic><topic>Histocompatibility antigens</topic><topic>HLA histocompatibility antigens</topic><topic>HLA-A Antigens - genetics</topic><topic>HLA-A Antigens - immunology</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Immunoglobulin-like receptors</topic><topic>Immunology</topic><topic>Inflammatory diseases</topic><topic>Killer cell immunoglobulin-like receptors</topic><topic>Killer Cells, Natural - immunology</topic><topic>Killer Cells, Natural - metabolism</topic><topic>Lymphocytes T</topic><topic>Molecular Sequence Data</topic><topic>Natural killer cells</topic><topic>original-article</topic><topic>Potassium channels (inwardly-rectifying)</topic><topic>Receptors, KIR - genetics</topic><topic>Receptors, KIR - immunology</topic><topic>Receptors, KIR3DL1 - genetics</topic><topic>Retinal diseases</topic><topic>Risk factors</topic><topic>Sequence Analysis, DNA</topic><topic>Susceptibility</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Levinson, R D</creatorcontrib><creatorcontrib>Du, Z</creatorcontrib><creatorcontrib>Luo, L</creatorcontrib><creatorcontrib>Monnet, D</creatorcontrib><creatorcontrib>Tabary, T</creatorcontrib><creatorcontrib>Brezin, A P</creatorcontrib><creatorcontrib>Zhao, L</creatorcontrib><creatorcontrib>Gjertson, D W</creatorcontrib><creatorcontrib>Holland, G N</creatorcontrib><creatorcontrib>Reed, E F</creatorcontrib><creatorcontrib>Cohen, J H M</creatorcontrib><creatorcontrib>Rajalingam, R</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Genes and immunity</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Levinson, R D</au><au>Du, Z</au><au>Luo, L</au><au>Monnet, D</au><au>Tabary, T</au><au>Brezin, A P</au><au>Zhao, L</au><au>Gjertson, D W</au><au>Holland, G N</au><au>Reed, E F</au><au>Cohen, J H M</au><au>Rajalingam, R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A29-positive individuals</atitle><jtitle>Genes and immunity</jtitle><stitle>Genes Immun</stitle><addtitle>Genes Immun</addtitle><date>2008-04-01</date><risdate>2008</risdate><volume>9</volume><issue>3</issue><spage>249</spage><epage>258</epage><pages>249-258</pages><issn>1466-4879</issn><eissn>1476-5470</eissn><abstract>Birdshot chorioretinopathy (BCR), a chronic ocular inflammatory disease with characteristic choroidal lymphocytic infiltrates, has been strongly associated with human leukocyte antigen (HLA)-A29. Although HLA-A29 occurs frequently in all populations, BCR affects only a small percentage of HLA-A29-positive Caucasians, indicating additional susceptibility factors for BCR. Discovery of HLA class I-specific killer cell immunoglobulin-like receptors (KIR) led to a series of epidemiological studies implicating
KIR–HLA
gene combinations in disease. Here, we characterized
KIR–HLA
pairs in BCR patients and controls carrying
HLA-A*29
as well as controls lacking
HLA-A*29
.
KIR–HLA
pairs implicated for weak inhibition (
KIR2DL2/3+HLA-C1
and
KIR3DL1+HLA-Bw4
T80
) in combination with activating
KIR
genes associated with autoimmunity (
KIR2DS2
,
2DS3
and
2DS4
) augment the risk of developing BCR in
HLA-A*29
-positive individuals. The reciprocal association of strong inhibitory pairs (
KIR3DL1+HLA-Bw4
I80
and
KIR2DL1+HLA-C2
) in combination with those implicated in protection from infection (
KIR3DS1+HLA-Bw4
I80
and
KIR2DS1+HLA-C2
) was observed in
HLA-A*29
-negative controls. These results suggest that a profound effect of KIR2DS2/S3/S4 in the absence of strong inhibition may enhance the activation of natural killer cells and T-cell subsets against intraocular self-antigens, thereby contributing to pathogenesis of BCR.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>18340360</pmid><doi>10.1038/gene.2008.13</doi><tpages>10</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1466-4879 |
| ispartof | Genes and immunity, 2008-04, Vol.9 (3), p.249-258 |
| issn | 1466-4879 1476-5470 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_69124995 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; SpringerLink Journals - AutoHoldings |
| subjects | Antigens Autoantigens Autoimmunity Autoimmunity - genetics Autoimmunity - immunology Base Sequence Biomedical and Life Sciences Biomedicine Cancer Research Cell activation Chorioretinitis - genetics Chorioretinitis - immunology Diagnosis Epidemiology European Continental Ancestry Group - genetics France Gene Expression Gene Expression Regulation - genetics Gene Expression Regulation - immunology Genetic aspects Genetic Predisposition to Disease - genetics Genotype Health aspects Histocompatibility antigen HLA Histocompatibility antigens HLA histocompatibility antigens HLA-A Antigens - genetics HLA-A Antigens - immunology Human Genetics Humans Immunoglobulin-like receptors Immunology Inflammatory diseases Killer cell immunoglobulin-like receptors Killer Cells, Natural - immunology Killer Cells, Natural - metabolism Lymphocytes T Molecular Sequence Data Natural killer cells original-article Potassium channels (inwardly-rectifying) Receptors, KIR - genetics Receptors, KIR - immunology Receptors, KIR3DL1 - genetics Retinal diseases Risk factors Sequence Analysis, DNA Susceptibility |
| title | Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A29-positive individuals |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-06T14%3A20%3A07IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_proqu&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Combination%20of%20KIR%20and%20HLA%20gene%20variants%20augments%20the%20risk%20of%20developing%20birdshot%20chorioretinopathy%20in%20HLA-A29-positive%20individuals&rft.jtitle=Genes%20and%20immunity&rft.au=Levinson,%20R%20D&rft.date=2008-04-01&rft.volume=9&rft.issue=3&rft.spage=249&rft.epage=258&rft.pages=249-258&rft.issn=1466-4879&rft.eissn=1476-5470&rft_id=info:doi/10.1038/gene.2008.13&rft_dat=%3Cgale_proqu%3EA179615677%3C/gale_proqu%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=218895383&rft_id=info:pmid/18340360&rft_galeid=A179615677&rfr_iscdi=true |