Reference : Novel Susceptibility Locus at 22q11 for Diabetic Nephropathy in Type 1 Diabetes
Scientific journals : Article
Human health sciences : Endocrinology, metabolism & nutrition
Novel Susceptibility Locus at 22q11 for Diabetic Nephropathy in Type 1 Diabetes
Wessman, Maija [ > > ]
Forsblom, Carol [ > > ]
Kaunisto, Mari A [ > > ]
So derlund, Jenny [ > > ]
Ilonen, Jorma [ > > ]
Sallinen, Riitta [ > > ]
Hiekkalinna, Tero [ > > ]
Parkkonen, Maija [ > > ]
Maxwell, Alexander P [ > > ]
Tarnow, Lise [ > > ]
Parving, Hans-Henrik [ > > ]
Hadjadj, Samy [ > > ]
Marre, Michel [ > > ]
Peltonen, Leena [ > > ]
SCHEEN, André mailto [Centre Hospitalier Universitaire de Liège - CHU > > Diabétologie,nutrition, maladies métaboliques >]
FinnDiane Study Group [ > > ]
Public Library of Science
Yes (verified by ORBi)
San Franscisco
[en] Background: Diabetic nephropathy (DN) affects about 30% of patients with type 1 diabetes (T1D) and contributes to serious
morbidity and mortality. So far only the 3q21–q25 region has repeatedly been indicated as a susceptibility region for DN.
The aim of this study was to search for new DN susceptibility loci in Finnish, Danish and French T1D families.
Methods and Results: We performed a genome-wide linkage study using 384 microsatellite markers. A total of 175 T1D
families were studied, of which 94 originated from Finland, 46 from Denmark and 35 from France. The whole sample set
consisted of 556 individuals including 42 sib-pairs concordant and 84 sib-pairs discordant for DN. Two-point and multi-point
non-parametric linkage analyses were performed using the Analyze package and the MERLIN software. A novel DN locus on
22q11 was identified in the joint analysis of the Finnish, Danish and French families by genome-wide multipoint nonparametric
linkage analysis using the Kong and Cox linear model (NPLpairs LOD score 3.58). Nominal or suggestive evidence
of linkage to this locus was also detected when the three populations were analyzed separately. Suggestive evidence of
linkage was found to six additional loci in the Finnish and French sample sets.
Conclusions: This study identified a novel DN locus at chromosome 22q11 with significant evidence of linkage to DN. Our
results suggest that this locus may be of importance in European populations. In addition, this study supports previously
indicated DN loci on 3q21–q25 and 19q13.
Researchers ; Professionals

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