AustralieFrV1, Main, Exploration, bibRecord, 008F35

A Human Type 1 Diabetes Susceptibility Locus Maps to Chromosome 21q22.3

Identifieur interne : 008F35 ( Main/Exploration ); précédent : 008F34; suivant : 008F36

A Human Type 1 Diabetes Susceptibility Locus Maps to Chromosome 21q22.3

Auteurs : Patrick Concannon [États-Unis] ; Suna Onengut-Gumuscu [États-Unis] ; John A. Todd [Royaume-Uni] ; Deborah J. Smyth [Royaume-Uni] ; Flemming Pociot [Danemark] ; Regine Bergholdt [Danemark] ; Beena Akolkar [États-Unis] ; Henry A. Erlich [États-Unis] ; Joan E. Hilner [États-Unis] ; Cécile Julier [France] ; Grant Morahan [Australie] ; J Rn Nerup [Danemark] ; Concepcion R. Nierras [États-Unis] ; Wei-Min Chen [États-Unis] ; Stephen S. Rich [États-Unis]

Source :

Diabetes : (New York, NY) [ 0012-1797 ] ; 2008.

RBID : Pascal:08-0492730

Descripteurs français

Pascal (Inist)
- Sensibilité, Locus, Chromosome, Diabète de type 1, Homme.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Chromosome, Human, Locus, Sensitivity, Type 1 diabetes.

Abstract

OBJECTIVE-The Type 1 Diabetes Genetics Consortium (T1DGC) has assembled and genotyped a large collection of multiplex families for the purpose of mapping genomic regions linked to type 1 diabetes. In the current study, we tested for evidence of loci associated with type 1 diabetes utilizing genome-wide linkage scan data and family-based association methods. RESEARCH DESIGN AND METHODS-A total of 2,496 multiplex families with type 1 diabetes were genotyped with a panel of 6,090 single nucleotide polymorphisms (SNPs). Evidence of association to disease was evaluated by the pedigree disequilibrium test. Significant results were followed up by genotyping and analyses in two independent sets of samples: 2,214 parent-affected child trio families and a panel of 7,721 case and 9,679 control subjects. RESULTS-Three of the SNPs most strongly associated with type 1 diabetes localized to previously identified type 1 diabetes risk loci: INS, IFIH1, and KIAA0350. A fourth strongly associated SNP, rs876498 (P = 1.0 × 10^-4), occurred in the sixth intron of the UBASH3A locus at chromosome 21q22.3. Support for this disease association was obtained in two additional independent sample sets: families with type 1 diabetes (odds ratio [OR] 1.06 [95% CI 1.00-1.11]; P = 0.023) and case and control subjects (1.14 [1.09-1.19]; P = 7.5 × 10^-8). CONCLUSIONS-The T1DGC 6K SNP scan and follow-up studies reported here confirm previously reported type 1 diabetes associations at INS, IFIH1, and KIAA0350 and identify an additional disease association on chromosome 21q22.3 in the UBASH3A locus (OR 1.10 [95% CI 1.07-1.13]; P = 4.4 × 10^-12). This gene and its flanking regions are now validated targets for further resequencing, genotyping, and functional studies in type 1 diabetes.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2551699

Affiliations:

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">A Human Type 1 Diabetes Susceptibility Locus Maps to Chromosome 21q22.3</title>
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<author><name sortKey="Pociot, Flemming" sort="Pociot, Flemming" uniqKey="Pociot F" first="Flemming" last="Pociot">Flemming Pociot</name>
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</placeName>
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<author><name sortKey="Hilner, Joan E" sort="Hilner, Joan E" uniqKey="Hilner J" first="Joan E." last="Hilner">Joan E. Hilner</name>
<affiliation wicri:level="2"><inist:fA14 i1="08"><s1>Division of Public Health Sciences, Wake Forest University Health Sciences</s1>
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<author><name sortKey="Julier, Cecile" sort="Julier, Cecile" uniqKey="Julier C" first="Cécile" last="Julier">Cécile Julier</name>
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<s2>Evry</s2>
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<country>France</country>
<placeName><region type="region">Île-de-France</region>
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</placeName>
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<s3>AUS</s3>
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</inist:fA14>
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</affiliation>
</author>
<author><name sortKey="Nerup, J Rn" sort="Nerup, J Rn" uniqKey="Nerup J" first="J Rn" last="Nerup">J Rn Nerup</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Steno Diabetes Center</s1>
<s2>Gentofte</s2>
<s3>DNK</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Danemark</country>
<wicri:noRegion>Steno Diabetes Center</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nierras, Concepcion R" sort="Nierras, Concepcion R" uniqKey="Nierras C" first="Concepcion R." last="Nierras">Concepcion R. Nierras</name>
<affiliation wicri:level="2"><inist:fA14 i1="11"><s1>Juvenile Diabetes Research Foundation</s1>
<s2>New York, New York</s2>
<s3>USA</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chen, Wei Min" sort="Chen, Wei Min" uniqKey="Chen W" first="Wei-Min" last="Chen">Wei-Min Chen</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Center for Public Health Genomics, University of Virginia</s1>
<s2>Charlottesville, Virginia</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Virginie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><inist:fA14 i1="12"><s1>Department of Public Health Sciences, Division of Biostatistics and Epidemiology, University of Virginia</s1>
<s2>Charlottesville, Virginia</s2>
<s3>USA</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Virginie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rich, Stephen S" sort="Rich, Stephen S" uniqKey="Rich S" first="Stephen S." last="Rich">Stephen S. Rich</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Center for Public Health Genomics, University of Virginia</s1>
<s2>Charlottesville, Virginia</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Virginie</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Diabetes : (New York, NY)</title>
<title level="j" type="abbreviated">Diabetes : (N.Y. NY)</title>
<idno type="ISSN">0012-1797</idno>
<imprint><date when="2008">2008</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Diabetes : (New York, NY)</title>
<title level="j" type="abbreviated">Diabetes : (N.Y. NY)</title>
<idno type="ISSN">0012-1797</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome</term>
<term>Human</term>
<term>Locus</term>
<term>Sensitivity</term>
<term>Type 1 diabetes</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Sensibilité</term>
<term>Locus</term>
<term>Chromosome</term>
<term>Diabète de type 1</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">OBJECTIVE-The Type 1 Diabetes Genetics Consortium (T1DGC) has assembled and genotyped a large collection of multiplex families for the purpose of mapping genomic regions linked to type 1 diabetes. In the current study, we tested for evidence of loci associated with type 1 diabetes utilizing genome-wide linkage scan data and family-based association methods. RESEARCH DESIGN AND METHODS-A total of 2,496 multiplex families with type 1 diabetes were genotyped with a panel of 6,090 single nucleotide polymorphisms (SNPs). Evidence of association to disease was evaluated by the pedigree disequilibrium test. Significant results were followed up by genotyping and analyses in two independent sets of samples: 2,214 parent-affected child trio families and a panel of 7,721 case and 9,679 control subjects. RESULTS-Three of the SNPs most strongly associated with type 1 diabetes localized to previously identified type 1 diabetes risk loci: INS, IFIH1, and KIAA0350. A fourth strongly associated SNP, rs876498 (P = 1.0 × 10<sup>-4</sup>
), occurred in the sixth intron of the UBASH3A locus at chromosome 21q22.3. Support for this disease association was obtained in two additional independent sample sets: families with type 1 diabetes (odds ratio [OR] 1.06 [95% CI 1.00-1.11]; P = 0.023) and case and control subjects (1.14 [1.09-1.19]; P = 7.5 × 10<sup>-8</sup>
). CONCLUSIONS-The T1DGC 6K SNP scan and follow-up studies reported here confirm previously reported type 1 diabetes associations at INS, IFIH1, and KIAA0350 and identify an additional disease association on chromosome 21q22.3 in the UBASH3A locus (OR 1.10 [95% CI 1.07-1.13]; P = 4.4 × 10<sup>-12</sup>
). This gene and its flanking regions are now validated targets for further resequencing, genotyping, and functional studies in type 1 diabetes.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Danemark</li>
<li>France</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Angleterre de l'Est</li>
<li>Californie</li>
<li>Caroline du Nord</li>
<li>Maryland</li>
<li>Virginie</li>
<li>État de New York</li>
<li>Île-de-France</li>
</region>
<settlement><li>Cambridge</li>
<li>Évry (Essonne)</li>
</settlement>
<orgName><li>Université de Cambridge</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Virginie"><name sortKey="Concannon, Patrick" sort="Concannon, Patrick" uniqKey="Concannon P" first="Patrick" last="Concannon">Patrick Concannon</name>
</region>
<name sortKey="Akolkar, Beena" sort="Akolkar, Beena" uniqKey="Akolkar B" first="Beena" last="Akolkar">Beena Akolkar</name>
<name sortKey="Chen, Wei Min" sort="Chen, Wei Min" uniqKey="Chen W" first="Wei-Min" last="Chen">Wei-Min Chen</name>
<name sortKey="Chen, Wei Min" sort="Chen, Wei Min" uniqKey="Chen W" first="Wei-Min" last="Chen">Wei-Min Chen</name>
<name sortKey="Concannon, Patrick" sort="Concannon, Patrick" uniqKey="Concannon P" first="Patrick" last="Concannon">Patrick Concannon</name>
<name sortKey="Erlich, Henry A" sort="Erlich, Henry A" uniqKey="Erlich H" first="Henry A." last="Erlich">Henry A. Erlich</name>
<name sortKey="Hilner, Joan E" sort="Hilner, Joan E" uniqKey="Hilner J" first="Joan E." last="Hilner">Joan E. Hilner</name>
<name sortKey="Nierras, Concepcion R" sort="Nierras, Concepcion R" uniqKey="Nierras C" first="Concepcion R." last="Nierras">Concepcion R. Nierras</name>
<name sortKey="Onengut Gumuscu, Suna" sort="Onengut Gumuscu, Suna" uniqKey="Onengut Gumuscu S" first="Suna" last="Onengut-Gumuscu">Suna Onengut-Gumuscu</name>
<name sortKey="Onengut Gumuscu, Suna" sort="Onengut Gumuscu, Suna" uniqKey="Onengut Gumuscu S" first="Suna" last="Onengut-Gumuscu">Suna Onengut-Gumuscu</name>
<name sortKey="Rich, Stephen S" sort="Rich, Stephen S" uniqKey="Rich S" first="Stephen S." last="Rich">Stephen S. Rich</name>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Todd, John A" sort="Todd, John A" uniqKey="Todd J" first="John A." last="Todd">John A. Todd</name>
</region>
<name sortKey="Smyth, Deborah J" sort="Smyth, Deborah J" uniqKey="Smyth D" first="Deborah J." last="Smyth">Deborah J. Smyth</name>
</country>
<country name="Danemark"><noRegion><name sortKey="Pociot, Flemming" sort="Pociot, Flemming" uniqKey="Pociot F" first="Flemming" last="Pociot">Flemming Pociot</name>
</noRegion>
<name sortKey="Bergholdt, Regine" sort="Bergholdt, Regine" uniqKey="Bergholdt R" first="Regine" last="Bergholdt">Regine Bergholdt</name>
<name sortKey="Nerup, J Rn" sort="Nerup, J Rn" uniqKey="Nerup J" first="J Rn" last="Nerup">J Rn Nerup</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Julier, Cecile" sort="Julier, Cecile" uniqKey="Julier C" first="Cécile" last="Julier">Cécile Julier</name>
</region>
</country>
<country name="Australie"><noRegion><name sortKey="Morahan, Grant" sort="Morahan, Grant" uniqKey="Morahan G" first="Grant" last="Morahan">Grant Morahan</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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A Human Type 1 Diabetes Susceptibility Locus Maps to Chromosome 21q22.3

A Human Type 1 Diabetes Susceptibility Locus Maps to Chromosome 21q22.3

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