Evidence for a Type 1 diabetes-specific mechanism for the insulin gene-associated IDDM2 locus rather than a general influence on autoimmunity
Aims The Type 1 diabetes susceptibility locus, IDDM2, has been mapped to a variable number of tandem repeats (VNTR) region 5′ upstream of the insulin (INS) and insulin‐like growth factor (IGF2) genes on chromosome 11p15. The function of the VNTR is uncertain; however, it may influence the thymic ex...
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| Veröffentlicht in: | Diabetic medicine 2004-03, Vol.21 (3), p.267-270 |
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| creator | Tait, K. F. Collins, J. E. Heward, J. M. Eaves, I. Snook, H. Franklyn, J. A. Barnett, A. H. Todd, J. A. Maranian, M. Compston, A. Sawcer, S. Gough, S. C. L. |
| description | Aims The Type 1 diabetes susceptibility locus, IDDM2, has been mapped to a variable number of tandem repeats (VNTR) region 5′ upstream of the insulin (INS) and insulin‐like growth factor (IGF2) genes on chromosome 11p15. The function of the VNTR is uncertain; however, it may influence the thymic expression of the insulin gene and affect the development of immune self‐tolerance. The aim of this study was to investigate whether the INS VNTR region is a Type 1 diabetes‐specific locus or acting as a general autoimmunity gene.
Methods We genotyped the INS‐IGF2 VNTR [using the surrogate INS−23 HphI single nucleotide polymorphism (SNP)] in 823 Graves’ disease (GD)/multiple sclerosis (MS) families, 1433 GD/MS patients and 837 healthy control subjects.
Results We found no evidence of excess transmission of the allele associated with Type 1 diabetes to individuals affected by GD or MS within the families. Analysis of the case–control dataset showed no genotypic or allelic difference between the two populations.
Conclusions These data suggest that the INS‐IGF2 VNTR is acting as a Type 1 diabetes‐specific susceptibility gene rather than as an influence on general autoimmunity. |
| doi_str_mv | 10.1111/j.1464-5491.2004.01129.x |
| format | Article |
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Methods We genotyped the INS‐IGF2 VNTR [using the surrogate INS−23 HphI single nucleotide polymorphism (SNP)] in 823 Graves’ disease (GD)/multiple sclerosis (MS) families, 1433 GD/MS patients and 837 healthy control subjects.
Results We found no evidence of excess transmission of the allele associated with Type 1 diabetes to individuals affected by GD or MS within the families. Analysis of the case–control dataset showed no genotypic or allelic difference between the two populations.
Conclusions These data suggest that the INS‐IGF2 VNTR is acting as a Type 1 diabetes‐specific susceptibility gene rather than as an influence on general autoimmunity.</description><identifier>ISSN: 0742-3071</identifier><identifier>EISSN: 1464-5491</identifier><identifier>DOI: 10.1111/j.1464-5491.2004.01129.x</identifier><identifier>PMID: 15008838</identifier><identifier>CODEN: DIMEEV</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Science Ltd</publisher><subject>Alleles ; Autoimmune Diseases - genetics ; autoimmunity ; Biological and medical sciences ; Chromosomes, Human, Pair 11 - genetics ; Diabetes Mellitus, Type 1 - genetics ; Diabetes. Impaired glucose tolerance ; Endocrine pancreas. Apud cells (diseases) ; Endocrinopathies ; Etiopathogenesis. Screening. Investigations. Target tissue resistance ; Female ; Genetic Predisposition to Disease - genetics ; Genotype ; Graves Disease - genetics ; Graves' disease ; Humans ; IDDM2 ; Insulin - genetics ; Insulin-Like Growth Factor II - genetics ; Male ; Medical sciences ; Minisatellite Repeats - genetics ; multiple sclerosis ; Multiple Sclerosis - genetics ; Polymorphism, Single Nucleotide - genetics ; Type 1 diabetes</subject><ispartof>Diabetic medicine, 2004-03, Vol.21 (3), p.267-270</ispartof><rights>2004 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4689-892731514d984f8b86af01627699e7f450e6eeaff08f4e6aef371ad9467fbe083</citedby><cites>FETCH-LOGICAL-c4689-892731514d984f8b86af01627699e7f450e6eeaff08f4e6aef371ad9467fbe083</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1464-5491.2004.01129.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1464-5491.2004.01129.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15522272$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15008838$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tait, K. F.</creatorcontrib><creatorcontrib>Collins, J. E.</creatorcontrib><creatorcontrib>Heward, J. M.</creatorcontrib><creatorcontrib>Eaves, I.</creatorcontrib><creatorcontrib>Snook, H.</creatorcontrib><creatorcontrib>Franklyn, J. A.</creatorcontrib><creatorcontrib>Barnett, A. H.</creatorcontrib><creatorcontrib>Todd, J. A.</creatorcontrib><creatorcontrib>Maranian, M.</creatorcontrib><creatorcontrib>Compston, A.</creatorcontrib><creatorcontrib>Sawcer, S.</creatorcontrib><creatorcontrib>Gough, S. C. L.</creatorcontrib><title>Evidence for a Type 1 diabetes-specific mechanism for the insulin gene-associated IDDM2 locus rather than a general influence on autoimmunity</title><title>Diabetic medicine</title><addtitle>Diabet Med</addtitle><description>Aims The Type 1 diabetes susceptibility locus, IDDM2, has been mapped to a variable number of tandem repeats (VNTR) region 5′ upstream of the insulin (INS) and insulin‐like growth factor (IGF2) genes on chromosome 11p15. The function of the VNTR is uncertain; however, it may influence the thymic expression of the insulin gene and affect the development of immune self‐tolerance. The aim of this study was to investigate whether the INS VNTR region is a Type 1 diabetes‐specific locus or acting as a general autoimmunity gene.
Methods We genotyped the INS‐IGF2 VNTR [using the surrogate INS−23 HphI single nucleotide polymorphism (SNP)] in 823 Graves’ disease (GD)/multiple sclerosis (MS) families, 1433 GD/MS patients and 837 healthy control subjects.
Results We found no evidence of excess transmission of the allele associated with Type 1 diabetes to individuals affected by GD or MS within the families. Analysis of the case–control dataset showed no genotypic or allelic difference between the two populations.
Conclusions These data suggest that the INS‐IGF2 VNTR is acting as a Type 1 diabetes‐specific susceptibility gene rather than as an influence on general autoimmunity.</description><subject>Alleles</subject><subject>Autoimmune Diseases - genetics</subject><subject>autoimmunity</subject><subject>Biological and medical sciences</subject><subject>Chromosomes, Human, Pair 11 - genetics</subject><subject>Diabetes Mellitus, Type 1 - genetics</subject><subject>Diabetes. Impaired glucose tolerance</subject><subject>Endocrine pancreas. Apud cells (diseases)</subject><subject>Endocrinopathies</subject><subject>Etiopathogenesis. Screening. Investigations. Target tissue resistance</subject><subject>Female</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genotype</subject><subject>Graves Disease - genetics</subject><subject>Graves' disease</subject><subject>Humans</subject><subject>IDDM2</subject><subject>Insulin - genetics</subject><subject>Insulin-Like Growth Factor II - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Minisatellite Repeats - genetics</subject><subject>multiple sclerosis</subject><subject>Multiple Sclerosis - genetics</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Type 1 diabetes</subject><issn>0742-3071</issn><issn>1464-5491</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkctuEzEUhi0EoiHwCsgbEJsJvs3Ys2BBmxAKLUSiiKXleI6pw1yCPQPJQ_DOeJKosEJ4Y-v4-8450o8QpmRG03m5mVFRiCwXJZ0xQsSMUMrK2e4emtx93EcTIgXLOJH0DD2KcUNIgnj5EJ3RnBCluJqgX4sfvoLWAnZdwAbf7LeAKa68WUMPMYtbsN55ixuwt6b1sTmA_S1g38ah9i3-Ci1kJsbOetNDhS_n82uG684OEQeTyBE3bWo-ksHUyXT1cBjapfLQd75phtb3-8fogTN1hCene4o-v1ncXLzNrj4uLy9eX2VWFKrMVMkkpzkVVamEU2tVGEdowWRRliCdyAkUAMY5opyAwoDjkpqqFIV0ayCKT9HzY99t6L4PEHvd-Gihrk0L3RC1pJJxJmgCX_wTpIpLzgpFSULVEbWhizGA09vgGxP2mhI9pqY3egxHj-HoMTV9SE3vkvr0NGVYN1D9EU8xJeDZCTDRmtoF01of_-JyxlhaeYpeHbmfvob9fy-g59eL8ZX87Oj72MPuzjfhmy4kl7n-8mGp-fvl6tO785Ve8d83JMKQ</recordid><startdate>200403</startdate><enddate>200403</enddate><creator>Tait, K. F.</creator><creator>Collins, J. E.</creator><creator>Heward, J. M.</creator><creator>Eaves, I.</creator><creator>Snook, H.</creator><creator>Franklyn, J. A.</creator><creator>Barnett, A. H.</creator><creator>Todd, J. A.</creator><creator>Maranian, M.</creator><creator>Compston, A.</creator><creator>Sawcer, S.</creator><creator>Gough, S. C. L.</creator><general>Blackwell Science Ltd</general><general>Blackwell</general><scope>BSCLL</scope><scope>IQODW</scope><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>7T5</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>200403</creationdate><title>Evidence for a Type 1 diabetes-specific mechanism for the insulin gene-associated IDDM2 locus rather than a general influence on autoimmunity</title><author>Tait, K. F. ; Collins, J. E. ; Heward, J. M. ; Eaves, I. ; Snook, H. ; Franklyn, J. A. ; Barnett, A. H. ; Todd, J. A. ; Maranian, M. ; Compston, A. ; Sawcer, S. ; Gough, S. C. L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4689-892731514d984f8b86af01627699e7f450e6eeaff08f4e6aef371ad9467fbe083</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Alleles</topic><topic>Autoimmune Diseases - genetics</topic><topic>autoimmunity</topic><topic>Biological and medical sciences</topic><topic>Chromosomes, Human, Pair 11 - genetics</topic><topic>Diabetes Mellitus, Type 1 - genetics</topic><topic>Diabetes. Impaired glucose tolerance</topic><topic>Endocrine pancreas. Apud cells (diseases)</topic><topic>Endocrinopathies</topic><topic>Etiopathogenesis. Screening. Investigations. Target tissue resistance</topic><topic>Female</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genotype</topic><topic>Graves Disease - genetics</topic><topic>Graves' disease</topic><topic>Humans</topic><topic>IDDM2</topic><topic>Insulin - genetics</topic><topic>Insulin-Like Growth Factor II - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Minisatellite Repeats - genetics</topic><topic>multiple sclerosis</topic><topic>Multiple Sclerosis - genetics</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Type 1 diabetes</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tait, K. F.</creatorcontrib><creatorcontrib>Collins, J. E.</creatorcontrib><creatorcontrib>Heward, J. M.</creatorcontrib><creatorcontrib>Eaves, I.</creatorcontrib><creatorcontrib>Snook, H.</creatorcontrib><creatorcontrib>Franklyn, J. A.</creatorcontrib><creatorcontrib>Barnett, A. H.</creatorcontrib><creatorcontrib>Todd, J. A.</creatorcontrib><creatorcontrib>Maranian, M.</creatorcontrib><creatorcontrib>Compston, A.</creatorcontrib><creatorcontrib>Sawcer, S.</creatorcontrib><creatorcontrib>Gough, S. C. L.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Diabetic medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tait, K. F.</au><au>Collins, J. E.</au><au>Heward, J. M.</au><au>Eaves, I.</au><au>Snook, H.</au><au>Franklyn, J. A.</au><au>Barnett, A. H.</au><au>Todd, J. A.</au><au>Maranian, M.</au><au>Compston, A.</au><au>Sawcer, S.</au><au>Gough, S. C. L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Evidence for a Type 1 diabetes-specific mechanism for the insulin gene-associated IDDM2 locus rather than a general influence on autoimmunity</atitle><jtitle>Diabetic medicine</jtitle><addtitle>Diabet Med</addtitle><date>2004-03</date><risdate>2004</risdate><volume>21</volume><issue>3</issue><spage>267</spage><epage>270</epage><pages>267-270</pages><issn>0742-3071</issn><eissn>1464-5491</eissn><coden>DIMEEV</coden><abstract>Aims The Type 1 diabetes susceptibility locus, IDDM2, has been mapped to a variable number of tandem repeats (VNTR) region 5′ upstream of the insulin (INS) and insulin‐like growth factor (IGF2) genes on chromosome 11p15. The function of the VNTR is uncertain; however, it may influence the thymic expression of the insulin gene and affect the development of immune self‐tolerance. The aim of this study was to investigate whether the INS VNTR region is a Type 1 diabetes‐specific locus or acting as a general autoimmunity gene.
Methods We genotyped the INS‐IGF2 VNTR [using the surrogate INS−23 HphI single nucleotide polymorphism (SNP)] in 823 Graves’ disease (GD)/multiple sclerosis (MS) families, 1433 GD/MS patients and 837 healthy control subjects.
Results We found no evidence of excess transmission of the allele associated with Type 1 diabetes to individuals affected by GD or MS within the families. Analysis of the case–control dataset showed no genotypic or allelic difference between the two populations.
Conclusions These data suggest that the INS‐IGF2 VNTR is acting as a Type 1 diabetes‐specific susceptibility gene rather than as an influence on general autoimmunity.</abstract><cop>Oxford, UK</cop><pub>Blackwell Science Ltd</pub><pmid>15008838</pmid><doi>10.1111/j.1464-5491.2004.01129.x</doi><tpages>4</tpages></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Alleles Autoimmune Diseases - genetics autoimmunity Biological and medical sciences Chromosomes, Human, Pair 11 - genetics Diabetes Mellitus, Type 1 - genetics Diabetes. Impaired glucose tolerance Endocrine pancreas. Apud cells (diseases) Endocrinopathies Etiopathogenesis. Screening. Investigations. Target tissue resistance Female Genetic Predisposition to Disease - genetics Genotype Graves Disease - genetics Graves' disease Humans IDDM2 Insulin - genetics Insulin-Like Growth Factor II - genetics Male Medical sciences Minisatellite Repeats - genetics multiple sclerosis Multiple Sclerosis - genetics Polymorphism, Single Nucleotide - genetics Type 1 diabetes |
| title | Evidence for a Type 1 diabetes-specific mechanism for the insulin gene-associated IDDM2 locus rather than a general influence on autoimmunity |
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