AustralieFrV1, Main, Exploration, bibRecord, 00A371

Type 1 diabetes : Evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families

Identifieur interne : 00A371 ( Main/Exploration ); précédent : 00A370; suivant : 00A372

Type 1 diabetes : Evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families

Auteurs : Patrick Concannon [États-Unis] ; Henry A. Erlich [États-Unis] ; Cecile Julier [France] ; Grant Morahan [Australie] ; J Rn Nerup [Danemark] ; Flemming Pociot [Danemark] ; John A. Todd [Royaume-Uni] ; Stephen S. Rich [États-Unis]

Source :

Diabetes : (New York, NY) [ 0012-1797 ] ; 2005.

RBID : Pascal:05-0457501

Descripteurs français

Pascal (Inist)
- Sensibilité, Génome, Liaison génétique, Diabète type 1.

English descriptors

KwdEn :
- Genetic linkage, Genome, Sensitivity, Type 1 diabetes.

Abstract

Type 1 diabetes is a common, multifactorial disease with strong familial clustering (genetic risk ratio [λ_s] ∼ 15). Approximately 40% of the familial aggregation of type 1 diabetes can be attributed to allelic variation of HLA loci in the major histocompatibility complex on chromosome 6p21 (locus-specific λ_s ∼ 3). Three other disease susceptibility loci have been clearly demonstrated based on their direct effect on risk, INS (chromosome 11p15, allelic odds ratio [OR] ∼ 1.9), CTLA4 (chromosome 2q33, allelic OR ∼ 1.2), and PTPN22 (chromosome 1p13, allelic OR ∼ 1.7). However, a large proportion of type 1 diabetes clustering remains unexplained. We report here on a combined linkage analysis of four datasets, three previously published genome scans, and one new genome scan of 254 families, which were consolidated through an international consortium for type 1 diabetes genetic studies (www.tldgc.org) and provided a total sample of 1,435 families with 1,636 affected sibpairs. In addition to the HLA region (nominal P = 2.0 x 10^-52), nine non-HLA-linked regions showed some evidence of linkage to type 1 diabetes (nominal P < 0.01), including three at (or near) genome-wide significance (P < 0.05): 2q31-q33, 10p14-q11, and 16q22-q24. In addition, after taking into account the linkage at the 6p21 (HLA) region, there was evidence supporting linkage for the 6q21 region (empiric P < 10^-4). More than 80% of the genome could be excluded as harboring type 1 diabetes susceptibility genes of modest effect (λ_s ≥ 1.3) that could be detected by linkage. This study represents one of the largest linkage studies ever performed for any common disease. The results demonstrate some consistency emerging for the existence of susceptibility loci on chromosomes 2q31-q33, 6q21, 10p14-q11, and 16q22-q24 but diminished support for some previously reported locations.

Affiliations:

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Le document en format XML

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<front><div type="abstract" xml:lang="en">Type 1 diabetes is a common, multifactorial disease with strong familial clustering (genetic risk ratio [λ<sub>s</sub>
] ∼ 15). Approximately 40% of the familial aggregation of type 1 diabetes can be attributed to allelic variation of HLA loci in the major histocompatibility complex on chromosome 6p21 (locus-specific λ<sub>s</sub>
 ∼ 3). Three other disease susceptibility loci have been clearly demonstrated based on their direct effect on risk, INS (chromosome 11p15, allelic odds ratio [OR] ∼ 1.9), CTLA4 (chromosome 2q33, allelic OR ∼ 1.2), and PTPN22 (chromosome 1p13, allelic OR ∼ 1.7). However, a large proportion of type 1 diabetes clustering remains unexplained. We report here on a combined linkage analysis of four datasets, three previously published genome scans, and one new genome scan of 254 families, which were consolidated through an international consortium for type 1 diabetes genetic studies (www.tldgc.org) and provided a total sample of 1,435 families with 1,636 affected sibpairs. In addition to the HLA region (nominal P = 2.0 x 10<sup>-52</sup>
), nine non-HLA-linked regions showed some evidence of linkage to type 1 diabetes (nominal P < 0.01), including three at (or near) genome-wide significance (P < 0.05): 2q31-q33, 10p14-q11, and 16q22-q24. In addition, after taking into account the linkage at the 6p21 (HLA) region, there was evidence supporting linkage for the 6q21 region (empiric P < 10<sup>-4</sup>
). More than 80% of the genome could be excluded as harboring type 1 diabetes susceptibility genes of modest effect (λ<sub>s</sub>
 ≥ 1.3) that could be detected by linkage. This study represents one of the largest linkage studies ever performed for any common disease. The results demonstrate some consistency emerging for the existence of susceptibility loci on chromosomes 2q31-q33, 6q21, 10p14-q11, and 16q22-q24 but diminished support for some previously reported locations.</div>
</front>
</TEI>
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<tree><country name="États-Unis"><region name="Washington (État)"><name sortKey="Concannon, Patrick" sort="Concannon, Patrick" uniqKey="Concannon P" first="Patrick" last="Concannon">Patrick Concannon</name>
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<name sortKey="Pociot, Flemming" sort="Pociot, Flemming" uniqKey="Pociot F" first="Flemming" last="Pociot">Flemming Pociot</name>
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<country name="Royaume-Uni"><noRegion><name sortKey="Todd, John A" sort="Todd, John A" uniqKey="Todd J" first="John A." last="Todd">John A. Todd</name>
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Type 1 diabetes : Evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families

Type 1 diabetes : Evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri