RGD Reference Report - Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene. - Rat Genome Database

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Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene.

Authors: Larsen, ZM  Johannesen, J  Kristiansen, OP  Nerup, J  Pociot, F     
Citation: Larsen ZM, etal., Diabet Med. 2004 Mar;21(3):218-22.
RGD ID: 8694396
Pubmed: PMID:15008830   (View Abstract at PubMed)

AIMS: To investigate whether the WFS1 gene, the gene for Wolfram syndrome, is a susceptibility gene for more common forms of diabetes in the Danish population. METHODS: One hundred and fifty-two Danish Type 1 diabetes mellitus sib-pair families were genotyped for two microsatellite markers situated within 5 cM of the WFS1 gene and analysed for linkage and association using the sib-TDT. The entire coding region, the 5'UTR and 3'UTR of the WFS1 gene, were screened for mutations by direct sequencing in 29 selected Type 1 diabetes patients. Four of the identified mutations were tested for linkage and association in 255 Danish Type 1 diabetes families (including 103 simplex families). RESULTS: Evidence for linkage to Type 1 diabetes was found as the second most frequent allele of the marker D4S394 were transmitted 137 times (T = 61%) and not transmitted 88 times to affected offspring (Puc = 0.0011). Twelve mutations were found in the coding region and three mutations in the 3'UTR. No evidence for linkage and association to Type 1 diabetes was found testing four of the identified amino acid substitutions. CONCLUSIONS: Evidence of linkage to Type 1 diabetes was observed in the Danish family collection. However, no evidence of linkage and association was observed for any of the analysed polymorphisms, suggesting that other variations must be responsible for the observed evidence of linkage in the region.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
type 1 diabetes mellitus no_associationIAGP 8694396DNA:mutations:exons more ...RGD 
type 1 diabetes mellitus no_associationISOWFS1 (Homo sapiens)8694396; 8694396DNA:mutations:exons more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Wfs1  (wolframin ER transmembrane glycoprotein)

Genes (Mus musculus)
Wfs1  (wolframin ER transmembrane glycoprotein)

Genes (Homo sapiens)
WFS1  (wolframin ER transmembrane glycoprotein)


Additional Information