The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis
Genome-wide association studies (GWAS) have revealed that different diseases share susceptibility variants. Twelve single-nucleotide polymorphisms (SNPs) previously associated with different immune-mediated diseases in GWAS were genotyped in a Caucasian Spanish population of 2864 multiple sclerosis...
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| Veröffentlicht in: | Genes and immunity 2010-07, Vol.11 (5), p.439-445 |
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| creator | Alcina, A Vandenbroeck, K Otaegui, D Saiz, A Gonzalez, J R Fernandez, O Cavanillas, M L Cénit, M C Arroyo, R Alloza, I García-Barcina, M Antigüedad, A Leyva, L Izquierdo, G Lucas, M Fedetz, M Pinto-Medel, M J Olascoaga, J Blanco, Y Comabella, M Montalban, X Urcelay, E Matesanz, F |
| description | Genome-wide association studies (GWAS) have revealed that different diseases share susceptibility variants. Twelve single-nucleotide polymorphisms (SNPs) previously associated with different immune-mediated diseases in GWAS were genotyped in a Caucasian Spanish population of 2864 multiple sclerosis (MS) patients and 2930 controls. Three SNPs were found to be associated with MS: rs1678542 in
KIF5A
(
P
=0.001, odds ratio (OR)=1.13, 95% confidence interval (CI)=1.05–1.23); rs3184504 in
SH2B3
(
P
=0.00001, OR=1.19, 95% CI=1.10–1.27) and rs763361 in
CD226
(
P
=0.00007, OR=1.16, 95%CI=1.08–1.25). These variants have previously been associated with rheumatoid arthritis and type 1 diabetes. The
SH2B3
polymorphism has additionally been associated with systemic lupus erythematosus. Our results, in addition to validating some of these loci as risk factors for MS, are consistent with shared genetic mechanisms underlying different immune-mediated diseases. These data may help to shape the contribution of each pathway to different disorders. |
| doi_str_mv | 10.1038/gene.2010.30 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_proqu</sourceid><recordid>TN_cdi_proquest_miscellaneous_754532219</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A232945859</galeid><sourcerecordid>A232945859</sourcerecordid><originalsourceid>FETCH-LOGICAL-c582t-d8dad039b80fb5ef2709e453c4116a97034e5bedb0ebd8d9ec33290bd4d970e33</originalsourceid><addsrcrecordid>eNqFkstv1DAQhyNERUvhxhlZcECVmsXvJMdloXRFJSRazpYTTxZXeSweB9H_HkfbUm1VhHzwY755_MaTZa8YXTAqyvcbGGDBaboK-iQ7YrLQuZIFfTqftc5lWVSH2XPEa0qZZrp6lh1yqmipKT_K8OoHEDvF0ff9NABxHsEi5BZxbLyN4MiX9ZlanpLVR841sYMjl-f8gyBzXvLLBm-HiKQZhxYCwQkb2EZf-87HG9KOgfRTF_22A4JNB2FEjy-yg9Z2CC9v9-Ps-9mnq9V5fvH183q1vMgbVfKYu9JZR0VVl7StFbS8oBVIJRrJmLZVQYUEVYOrKdSJraARgle0dtIlIwhxnL3bxd2G8ecEGE3vU3ldZwcYJzSFStE4Z9X_SSFT8xKbyDcPyOtxCkOSYTRTla5KOSd--y-Ia8kKnrpf3lMb24HxQzvGYJs5sVnypESqUs2lLR6h0nLQ-9R1aH1633M42XNITITfcWMnRLO-_LbPnu7YJn0MBmjNNvjehhvDqJmny8y_bObpMoIm_PWtrqnuwf2F78YpAfkOwGQaNhDuhT8a8A86NNWl</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2641725088</pqid></control><display><type>article</type><title>The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>Springer Nature - Complete Springer Journals</source><creator>Alcina, A ; Vandenbroeck, K ; Otaegui, D ; Saiz, A ; Gonzalez, J R ; Fernandez, O ; Cavanillas, M L ; Cénit, M C ; Arroyo, R ; Alloza, I ; García-Barcina, M ; Antigüedad, A ; Leyva, L ; Izquierdo, G ; Lucas, M ; Fedetz, M ; Pinto-Medel, M J ; Olascoaga, J ; Blanco, Y ; Comabella, M ; Montalban, X ; Urcelay, E ; Matesanz, F</creator><creatorcontrib>Alcina, A ; Vandenbroeck, K ; Otaegui, D ; Saiz, A ; Gonzalez, J R ; Fernandez, O ; Cavanillas, M L ; Cénit, M C ; Arroyo, R ; Alloza, I ; García-Barcina, M ; Antigüedad, A ; Leyva, L ; Izquierdo, G ; Lucas, M ; Fedetz, M ; Pinto-Medel, M J ; Olascoaga, J ; Blanco, Y ; Comabella, M ; Montalban, X ; Urcelay, E ; Matesanz, F</creatorcontrib><description>Genome-wide association studies (GWAS) have revealed that different diseases share susceptibility variants. Twelve single-nucleotide polymorphisms (SNPs) previously associated with different immune-mediated diseases in GWAS were genotyped in a Caucasian Spanish population of 2864 multiple sclerosis (MS) patients and 2930 controls. Three SNPs were found to be associated with MS: rs1678542 in
KIF5A
(
P
=0.001, odds ratio (OR)=1.13, 95% confidence interval (CI)=1.05–1.23); rs3184504 in
SH2B3
(
P
=0.00001, OR=1.19, 95% CI=1.10–1.27) and rs763361 in
CD226
(
P
=0.00007, OR=1.16, 95%CI=1.08–1.25). These variants have previously been associated with rheumatoid arthritis and type 1 diabetes. The
SH2B3
polymorphism has additionally been associated with systemic lupus erythematosus. Our results, in addition to validating some of these loci as risk factors for MS, are consistent with shared genetic mechanisms underlying different immune-mediated diseases. These data may help to shape the contribution of each pathway to different disorders.</description><identifier>ISSN: 1466-4879</identifier><identifier>EISSN: 1476-5470</identifier><identifier>DOI: 10.1038/gene.2010.30</identifier><identifier>PMID: 20508602</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>631/208/457/649 ; 631/208/727/2000 ; 692/699/249/1313/1666 ; 692/699/2743/1313 ; Adaptor Proteins, Signal Transducing ; Antigens, Differentiation, T-Lymphocyte - genetics ; Autoimmune diseases ; Autoimmune Diseases - genetics ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Case-Control Studies ; Diabetes ; Diabetes mellitus (insulin dependent) ; Disease ; Disease susceptibility ; European Continental Ancestry Group - genetics ; Gene Expression ; Genes ; Genetic aspects ; Genetic Predisposition to Disease - genetics ; Genome-wide association studies ; Genome-Wide Association Study ; Genomes ; Human Genetics ; Humans ; Immunology ; Intracellular Signaling Peptides and Proteins ; Kinesin - genetics ; Lupus ; Multiple sclerosis ; Multiple Sclerosis - genetics ; Nervous system ; original-article ; Polymorphism, Single Nucleotide - genetics ; Proteins - genetics ; Psoriasis ; Rheumatoid arthritis ; Risk factors ; Single nucleotide polymorphisms ; Single-nucleotide polymorphism ; Spain ; Systemic lupus erythematosus ; White people</subject><ispartof>Genes and immunity, 2010-07, Vol.11 (5), p.439-445</ispartof><rights>Macmillan Publishers Limited 2010</rights><rights>COPYRIGHT 2010 Nature Publishing Group</rights><rights>Macmillan Publishers Limited 2010.</rights><rights>Copyright Nature Publishing Group Jul 2010</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c582t-d8dad039b80fb5ef2709e453c4116a97034e5bedb0ebd8d9ec33290bd4d970e33</citedby><cites>FETCH-LOGICAL-c582t-d8dad039b80fb5ef2709e453c4116a97034e5bedb0ebd8d9ec33290bd4d970e33</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.2010.30$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/gene.2010.30$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,777,781,27905,27906,41469,42538,51300</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20508602$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Alcina, A</creatorcontrib><creatorcontrib>Vandenbroeck, K</creatorcontrib><creatorcontrib>Otaegui, D</creatorcontrib><creatorcontrib>Saiz, A</creatorcontrib><creatorcontrib>Gonzalez, J R</creatorcontrib><creatorcontrib>Fernandez, O</creatorcontrib><creatorcontrib>Cavanillas, M L</creatorcontrib><creatorcontrib>Cénit, M C</creatorcontrib><creatorcontrib>Arroyo, R</creatorcontrib><creatorcontrib>Alloza, I</creatorcontrib><creatorcontrib>García-Barcina, M</creatorcontrib><creatorcontrib>Antigüedad, A</creatorcontrib><creatorcontrib>Leyva, L</creatorcontrib><creatorcontrib>Izquierdo, G</creatorcontrib><creatorcontrib>Lucas, M</creatorcontrib><creatorcontrib>Fedetz, M</creatorcontrib><creatorcontrib>Pinto-Medel, M J</creatorcontrib><creatorcontrib>Olascoaga, J</creatorcontrib><creatorcontrib>Blanco, Y</creatorcontrib><creatorcontrib>Comabella, M</creatorcontrib><creatorcontrib>Montalban, X</creatorcontrib><creatorcontrib>Urcelay, E</creatorcontrib><creatorcontrib>Matesanz, F</creatorcontrib><title>The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis</title><title>Genes and immunity</title><addtitle>Genes Immun</addtitle><addtitle>Genes Immun</addtitle><description>Genome-wide association studies (GWAS) have revealed that different diseases share susceptibility variants. Twelve single-nucleotide polymorphisms (SNPs) previously associated with different immune-mediated diseases in GWAS were genotyped in a Caucasian Spanish population of 2864 multiple sclerosis (MS) patients and 2930 controls. Three SNPs were found to be associated with MS: rs1678542 in
KIF5A
(
P
=0.001, odds ratio (OR)=1.13, 95% confidence interval (CI)=1.05–1.23); rs3184504 in
SH2B3
(
P
=0.00001, OR=1.19, 95% CI=1.10–1.27) and rs763361 in
CD226
(
P
=0.00007, OR=1.16, 95%CI=1.08–1.25). These variants have previously been associated with rheumatoid arthritis and type 1 diabetes. The
SH2B3
polymorphism has additionally been associated with systemic lupus erythematosus. Our results, in addition to validating some of these loci as risk factors for MS, are consistent with shared genetic mechanisms underlying different immune-mediated diseases. These data may help to shape the contribution of each pathway to different disorders.</description><subject>631/208/457/649</subject><subject>631/208/727/2000</subject><subject>692/699/249/1313/1666</subject><subject>692/699/2743/1313</subject><subject>Adaptor Proteins, Signal Transducing</subject><subject>Antigens, Differentiation, T-Lymphocyte - genetics</subject><subject>Autoimmune diseases</subject><subject>Autoimmune Diseases - genetics</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Case-Control Studies</subject><subject>Diabetes</subject><subject>Diabetes mellitus (insulin dependent)</subject><subject>Disease</subject><subject>Disease susceptibility</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Gene Expression</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genome-wide association studies</subject><subject>Genome-Wide Association Study</subject><subject>Genomes</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Immunology</subject><subject>Intracellular Signaling Peptides and Proteins</subject><subject>Kinesin - genetics</subject><subject>Lupus</subject><subject>Multiple sclerosis</subject><subject>Multiple Sclerosis - genetics</subject><subject>Nervous system</subject><subject>original-article</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Proteins - genetics</subject><subject>Psoriasis</subject><subject>Rheumatoid arthritis</subject><subject>Risk factors</subject><subject>Single nucleotide polymorphisms</subject><subject>Single-nucleotide polymorphism</subject><subject>Spain</subject><subject>Systemic lupus erythematosus</subject><subject>White people</subject><issn>1466-4879</issn><issn>1476-5470</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkstv1DAQhyNERUvhxhlZcECVmsXvJMdloXRFJSRazpYTTxZXeSweB9H_HkfbUm1VhHzwY755_MaTZa8YXTAqyvcbGGDBaboK-iQ7YrLQuZIFfTqftc5lWVSH2XPEa0qZZrp6lh1yqmipKT_K8OoHEDvF0ff9NABxHsEi5BZxbLyN4MiX9ZlanpLVR841sYMjl-f8gyBzXvLLBm-HiKQZhxYCwQkb2EZf-87HG9KOgfRTF_22A4JNB2FEjy-yg9Z2CC9v9-Ps-9mnq9V5fvH183q1vMgbVfKYu9JZR0VVl7StFbS8oBVIJRrJmLZVQYUEVYOrKdSJraARgle0dtIlIwhxnL3bxd2G8ecEGE3vU3ldZwcYJzSFStE4Z9X_SSFT8xKbyDcPyOtxCkOSYTRTla5KOSd--y-Ia8kKnrpf3lMb24HxQzvGYJs5sVnypESqUs2lLR6h0nLQ-9R1aH1633M42XNITITfcWMnRLO-_LbPnu7YJn0MBmjNNvjehhvDqJmny8y_bObpMoIm_PWtrqnuwf2F78YpAfkOwGQaNhDuhT8a8A86NNWl</recordid><startdate>20100701</startdate><enddate>20100701</enddate><creator>Alcina, A</creator><creator>Vandenbroeck, K</creator><creator>Otaegui, D</creator><creator>Saiz, A</creator><creator>Gonzalez, J R</creator><creator>Fernandez, O</creator><creator>Cavanillas, M L</creator><creator>Cénit, M C</creator><creator>Arroyo, R</creator><creator>Alloza, I</creator><creator>García-Barcina, M</creator><creator>Antigüedad, A</creator><creator>Leyva, L</creator><creator>Izquierdo, G</creator><creator>Lucas, M</creator><creator>Fedetz, M</creator><creator>Pinto-Medel, M J</creator><creator>Olascoaga, J</creator><creator>Blanco, Y</creator><creator>Comabella, M</creator><creator>Montalban, X</creator><creator>Urcelay, E</creator><creator>Matesanz, F</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>20100701</creationdate><title>The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis</title><author>Alcina, A ; Vandenbroeck, K ; Otaegui, D ; Saiz, A ; Gonzalez, J R ; Fernandez, O ; Cavanillas, M L ; Cénit, M C ; Arroyo, R ; Alloza, I ; García-Barcina, M ; Antigüedad, A ; Leyva, L ; Izquierdo, G ; Lucas, M ; Fedetz, M ; Pinto-Medel, M J ; Olascoaga, J ; Blanco, Y ; Comabella, M ; Montalban, X ; Urcelay, E ; Matesanz, F</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c582t-d8dad039b80fb5ef2709e453c4116a97034e5bedb0ebd8d9ec33290bd4d970e33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>631/208/457/649</topic><topic>631/208/727/2000</topic><topic>692/699/249/1313/1666</topic><topic>692/699/2743/1313</topic><topic>Adaptor Proteins, Signal Transducing</topic><topic>Antigens, Differentiation, T-Lymphocyte - genetics</topic><topic>Autoimmune diseases</topic><topic>Autoimmune Diseases - genetics</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Case-Control Studies</topic><topic>Diabetes</topic><topic>Diabetes mellitus (insulin dependent)</topic><topic>Disease</topic><topic>Disease susceptibility</topic><topic>European Continental Ancestry Group - genetics</topic><topic>Gene Expression</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genome-wide association studies</topic><topic>Genome-Wide Association Study</topic><topic>Genomes</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Immunology</topic><topic>Intracellular Signaling Peptides and Proteins</topic><topic>Kinesin - genetics</topic><topic>Lupus</topic><topic>Multiple sclerosis</topic><topic>Multiple Sclerosis - genetics</topic><topic>Nervous system</topic><topic>original-article</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Proteins - genetics</topic><topic>Psoriasis</topic><topic>Rheumatoid arthritis</topic><topic>Risk factors</topic><topic>Single nucleotide polymorphisms</topic><topic>Single-nucleotide polymorphism</topic><topic>Spain</topic><topic>Systemic lupus erythematosus</topic><topic>White people</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Alcina, A</creatorcontrib><creatorcontrib>Vandenbroeck, K</creatorcontrib><creatorcontrib>Otaegui, D</creatorcontrib><creatorcontrib>Saiz, A</creatorcontrib><creatorcontrib>Gonzalez, J R</creatorcontrib><creatorcontrib>Fernandez, O</creatorcontrib><creatorcontrib>Cavanillas, M L</creatorcontrib><creatorcontrib>Cénit, M C</creatorcontrib><creatorcontrib>Arroyo, R</creatorcontrib><creatorcontrib>Alloza, I</creatorcontrib><creatorcontrib>García-Barcina, M</creatorcontrib><creatorcontrib>Antigüedad, A</creatorcontrib><creatorcontrib>Leyva, L</creatorcontrib><creatorcontrib>Izquierdo, G</creatorcontrib><creatorcontrib>Lucas, M</creatorcontrib><creatorcontrib>Fedetz, M</creatorcontrib><creatorcontrib>Pinto-Medel, M J</creatorcontrib><creatorcontrib>Olascoaga, J</creatorcontrib><creatorcontrib>Blanco, Y</creatorcontrib><creatorcontrib>Comabella, M</creatorcontrib><creatorcontrib>Montalban, X</creatorcontrib><creatorcontrib>Urcelay, E</creatorcontrib><creatorcontrib>Matesanz, F</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>ProQuest 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>Alcina, A</au><au>Vandenbroeck, K</au><au>Otaegui, D</au><au>Saiz, A</au><au>Gonzalez, J R</au><au>Fernandez, O</au><au>Cavanillas, M L</au><au>Cénit, M C</au><au>Arroyo, R</au><au>Alloza, I</au><au>García-Barcina, M</au><au>Antigüedad, A</au><au>Leyva, L</au><au>Izquierdo, G</au><au>Lucas, M</au><au>Fedetz, M</au><au>Pinto-Medel, M J</au><au>Olascoaga, J</au><au>Blanco, Y</au><au>Comabella, M</au><au>Montalban, X</au><au>Urcelay, E</au><au>Matesanz, F</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis</atitle><jtitle>Genes and immunity</jtitle><stitle>Genes Immun</stitle><addtitle>Genes Immun</addtitle><date>2010-07-01</date><risdate>2010</risdate><volume>11</volume><issue>5</issue><spage>439</spage><epage>445</epage><pages>439-445</pages><issn>1466-4879</issn><eissn>1476-5470</eissn><abstract>Genome-wide association studies (GWAS) have revealed that different diseases share susceptibility variants. Twelve single-nucleotide polymorphisms (SNPs) previously associated with different immune-mediated diseases in GWAS were genotyped in a Caucasian Spanish population of 2864 multiple sclerosis (MS) patients and 2930 controls. Three SNPs were found to be associated with MS: rs1678542 in
KIF5A
(
P
=0.001, odds ratio (OR)=1.13, 95% confidence interval (CI)=1.05–1.23); rs3184504 in
SH2B3
(
P
=0.00001, OR=1.19, 95% CI=1.10–1.27) and rs763361 in
CD226
(
P
=0.00007, OR=1.16, 95%CI=1.08–1.25). These variants have previously been associated with rheumatoid arthritis and type 1 diabetes. The
SH2B3
polymorphism has additionally been associated with systemic lupus erythematosus. Our results, in addition to validating some of these loci as risk factors for MS, are consistent with shared genetic mechanisms underlying different immune-mediated diseases. These data may help to shape the contribution of each pathway to different disorders.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>20508602</pmid><doi>10.1038/gene.2010.30</doi><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1466-4879 |
| ispartof | Genes and immunity, 2010-07, Vol.11 (5), p.439-445 |
| issn | 1466-4879 1476-5470 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_754532219 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Springer Nature - Complete Springer Journals |
| subjects | 631/208/457/649 631/208/727/2000 692/699/249/1313/1666 692/699/2743/1313 Adaptor Proteins, Signal Transducing Antigens, Differentiation, T-Lymphocyte - genetics Autoimmune diseases Autoimmune Diseases - genetics Biomedical and Life Sciences Biomedicine Cancer Research Case-Control Studies Diabetes Diabetes mellitus (insulin dependent) Disease Disease susceptibility European Continental Ancestry Group - genetics Gene Expression Genes Genetic aspects Genetic Predisposition to Disease - genetics Genome-wide association studies Genome-Wide Association Study Genomes Human Genetics Humans Immunology Intracellular Signaling Peptides and Proteins Kinesin - genetics Lupus Multiple sclerosis Multiple Sclerosis - genetics Nervous system original-article Polymorphism, Single Nucleotide - genetics Proteins - genetics Psoriasis Rheumatoid arthritis Risk factors Single nucleotide polymorphisms Single-nucleotide polymorphism Spain Systemic lupus erythematosus White people |
| title | The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-21T02%3A28%3A49IST&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=The%20autoimmune%20disease-associated%20KIF5A,%20CD226%20and%20SH2B3%20gene%20variants%20confer%20susceptibility%20for%20multiple%20sclerosis&rft.jtitle=Genes%20and%20immunity&rft.au=Alcina,%20A&rft.date=2010-07-01&rft.volume=11&rft.issue=5&rft.spage=439&rft.epage=445&rft.pages=439-445&rft.issn=1466-4879&rft.eissn=1476-5470&rft_id=info:doi/10.1038/gene.2010.30&rft_dat=%3Cgale_proqu%3EA232945859%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=2641725088&rft_id=info:pmid/20508602&rft_galeid=A232945859&rfr_iscdi=true |