Novel susceptibility locus at 22q11 for diabetic nephropathy in type 1 diabetes.

<h4>Background</h4>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 f...

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Autores principales: Maija Wessman, Carol Forsblom, Mari A Kaunisto, Jenny Söderlund, Jorma Ilonen, Riitta Sallinen, Tero Hiekkalinna, Maija Parkkonen, Alexander P Maxwell, Lise Tarnow, Hans-Henrik Parving, Samy Hadjadj, Michel Marre, Leena Peltonen, Per-Henrik Groop, FinnDiane Study Group
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Publicado: Public Library of Science (PLoS) 2011
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spelling oai:doaj.org-article:7202c746780c46e2ba08ca15dc30dfde2021-11-18T06:46:48ZNovel susceptibility locus at 22q11 for diabetic nephropathy in type 1 diabetes.1932-620310.1371/journal.pone.0024053https://doaj.org/article/7202c746780c46e2ba08ca15dc30dfde2011-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21909410/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>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.<h4>Methods and results</h4>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 non-parametric linkage analysis using the Kong and Cox linear model (NPL(pairs) 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.<h4>Conclusions</h4>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.Maija WessmanCarol ForsblomMari A KaunistoJenny SöderlundJorma IlonenRiitta SallinenTero HiekkalinnaMaija ParkkonenAlexander P MaxwellLise TarnowHans-Henrik ParvingSamy HadjadjMichel MarreLeena PeltonenPer-Henrik GroopFinnDiane Study GroupPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 6, Iss 9, p e24053 (2011)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Maija Wessman
Carol Forsblom
Mari A Kaunisto
Jenny Söderlund
Jorma Ilonen
Riitta Sallinen
Tero Hiekkalinna
Maija Parkkonen
Alexander P Maxwell
Lise Tarnow
Hans-Henrik Parving
Samy Hadjadj
Michel Marre
Leena Peltonen
Per-Henrik Groop
FinnDiane Study Group
Novel susceptibility locus at 22q11 for diabetic nephropathy in type 1 diabetes.
description <h4>Background</h4>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.<h4>Methods and results</h4>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 non-parametric linkage analysis using the Kong and Cox linear model (NPL(pairs) 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.<h4>Conclusions</h4>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.
format article
author Maija Wessman
Carol Forsblom
Mari A Kaunisto
Jenny Söderlund
Jorma Ilonen
Riitta Sallinen
Tero Hiekkalinna
Maija Parkkonen
Alexander P Maxwell
Lise Tarnow
Hans-Henrik Parving
Samy Hadjadj
Michel Marre
Leena Peltonen
Per-Henrik Groop
FinnDiane Study Group
author_facet Maija Wessman
Carol Forsblom
Mari A Kaunisto
Jenny Söderlund
Jorma Ilonen
Riitta Sallinen
Tero Hiekkalinna
Maija Parkkonen
Alexander P Maxwell
Lise Tarnow
Hans-Henrik Parving
Samy Hadjadj
Michel Marre
Leena Peltonen
Per-Henrik Groop
FinnDiane Study Group
author_sort Maija Wessman
title Novel susceptibility locus at 22q11 for diabetic nephropathy in type 1 diabetes.
title_short Novel susceptibility locus at 22q11 for diabetic nephropathy in type 1 diabetes.
title_full Novel susceptibility locus at 22q11 for diabetic nephropathy in type 1 diabetes.
title_fullStr Novel susceptibility locus at 22q11 for diabetic nephropathy in type 1 diabetes.
title_full_unstemmed Novel susceptibility locus at 22q11 for diabetic nephropathy in type 1 diabetes.
title_sort novel susceptibility locus at 22q11 for diabetic nephropathy in type 1 diabetes.
publisher Public Library of Science (PLoS)
publishDate 2011
url https://doaj.org/article/7202c746780c46e2ba08ca15dc30dfde
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