A functional variant of IRS1 is associated with type 1 diabetes in families from the US and UK.
A collection of 767 multiplex type 1 diabetes families from the US and UK were tested for linkage to the IRS1 gene and for allelic association with a specific variant of IRS1, G972R. Pedigree disequilibrium testing revealed preferential transmission of the 972R allele to affected offspring in these families (P = 0.02). Linkage analyses conditioning on status at IRS1 position 972 suggest the possibility of interaction with an unidentified locus on chromosome 8.
Morrison
V Anne
VA
Molecular Genetics Program, Benaroya Research Institute, Seattle, WA 98101, USA.
Onengut-Gumuscu
Suna
S
Concannon
Patrick
P
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D055504:Insulin Receptor Substrate Proteins; D008126:Lod Score; D008297:Male; D010750:Phosphoproteins / Q000235:genetics*; D006113:United Kingdom; D014481:United States
C526292:IRS1 protein, human; D055504:Insulin Receptor Substrate Proteins; D010750:Phosphoproteins