RGD Reference Report - A common stromal cell-derived factor-1 chemokine gene variant is associated with the early onset of type 1 diabetes. - Rat Genome Database

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A common stromal cell-derived factor-1 chemokine gene variant is associated with the early onset of type 1 diabetes.

Authors: Dubois-Laforgue, D  Hendel, H  Caillat-Zucman, S  Zagury, JF  Winkler, C  Boitard, C  Timsit, J 
Citation: Dubois-Laforgue D, etal., Diabetes. 2001 May;50(5):1211-3.
RGD ID: 2306563
Pubmed: PMID:11334429   (View Abstract at PubMed)

Type 1 diabetes results from the autoimmune destruction of pancreatic beta-cells. Although the disease shows a strong association with HLA class II alleles, other genes may influence the initiation or the rate of progression of the autoimmune process. The recruitment of mononuclear cells within the islets of Langerhans is a critical step in the pathogenesis of the disease. Because chemokines are cytokines that promote migration of mononuclear cells, we hypothesized that polymorphisms in chemokine receptor or chemokine genes, CCR5 and SDF1, may be involved in susceptibility to or clinical expression of type 1 diabetes. The frequencies of the CCR5-delta32 and SDF1-3'A (801G-->A in the 3' untranslated region) variants were similar in 208 unrelated Caucasian patients with type 1 diabetes and in 120 Caucasian control subjects. They were not modified after stratification for the predisposing HLA-DR3 and -DR4 haplotypes. However, the SDF1-3'A variant was strongly associated with early onset (< 15 years) of the disease (odds ratio 2.6, P = 0.0019). On average, the presence of the SDF1-3'A allele was associated with a 5-year reduction in the age at onset of diabetes (P = 0.0067). Our results suggest that stromal cell-derived factor-1 may be implicated in the aggressiveness of the autoimmune process leading to type 1 diabetes. These preliminary data require replication in other populations.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
type 1 diabetes mellitus onsetIAGP 2306563DNA:polymorphism:3' utr (human)RGD 
type 1 diabetes mellitus onsetISOCXCL12 (Homo sapiens)2306563; 2306563DNA:polymorphism:3' utr (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cxcl12  (C-X-C motif chemokine ligand 12)

Genes (Mus musculus)
Cxcl12  (C-X-C motif chemokine ligand 12)

Genes (Homo sapiens)
CXCL12  (C-X-C motif chemokine ligand 12)


Additional Information