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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Chromosome 2q31. 1 associates with ESRD in women with type 1 diabetes
Journal of the American Society of Nephrology, Volume 24, No. 10, Year 2013
Notification
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Description
Sex and genetic variation influence the risk of developing diabetic nephropathy and ESRD in patients with type 1 diabetes. We performed a genome-wide association study in a cohort of 3652 patients from the Finnish Diabetic Nephropathy (FinnDiane) Study with type 1 diabetes to determine whether sex-specific genetic risk factors for ESRD exist. A common variant, rs4972593 on chromosome 2q31. 1, was associated with ESRD in women (P<5×10 -8) but not in men (P=0. 77). This association was replicated in the meta-analysis of three independent type 1 diabetes cohorts (P=0. 02) and remained significant for women (P<5×10-8; odds ratio, 1. 81 [95%confidence interval, 1. 47 to 2. 24]) upon combined meta-analysis of the discovery and replication cohorts. rs4972593 is located between the genes that code for the Sp3 transcription factor, which interacts directly with estrogen receptor a and regulates the expression of genes linked to glomerular function and the pathogenesis of nephropathy, and the CDCA7 transcription factor, which regulates cell proliferation. Further examination revealed potential transcription factor-binding sites within rs4972593 and predicted eight estrogenresponsive elements within 5 kb of this locus. Moreover, we found sex-specific differences in the glomerular expression levels of SP3 (P=0. 004). Overall, these results suggest that rs4972593 is a sex-specific genetic variant associated with ESRD in patients with type 1 diabetes and may underlie the sex-specific protection against ESRD. Copyright © 2013 by the American Society of Nephrology.
Authors & Co-Authors
Sandholm, Niina
Finland, Helsinki
Folkhälsan Institute of Genetics
Finland, Helsinki
Helsinki University Hospital
Finland, Espoo
Aalto University
McKnight, Amy Jayne
United Kingdom, Belfast
Queen's University Belfast
Salem, Rany M.
United States, Cambridge
Broad Institute
United States, Boston
Boston Children's Hospital
United States, Boston
Harvard Medical School
Brennan, Eoin P.
Ireland, Dublin
University College Dublin
Ireland, Dublin
Mater Misericordiae University Hospital
Forsblom, Carol M.
Finland, Helsinki
Folkhälsan Institute of Genetics
Finland, Helsinki
Helsinki University Hospital
Harjutsalo, Valma
Finland, Helsinki
Folkhälsan Institute of Genetics
Finland, Helsinki
Helsinki University Hospital
Finland, Helsinki
Terveyden ja Hyvinvoinnin Laitos
Mak̈inen, Ville Petteri
Finland, Helsinki
Folkhälsan Institute of Genetics
Finland, Helsinki
Helsinki University Hospital
United States, Los Angeles
University of California, Los Angeles
McKay, Gareth J.
United Kingdom, Belfast
Queen's University Belfast
Sadlier, Denise M.
Ireland, Dublin
University College Dublin
Ireland, Dublin
Mater Misericordiae University Hospital
Williams, Winfred W.
United States, Boston
Massachusetts General Hospital
Romania, Bucharest
Universitatea de Medicina si Farmacie Carol Davila Din Bucuresti
Martin, Finian M.
Ireland, Dublin
University College Dublin
Ireland, Dublin
Mater Misericordiae University Hospital
Panduru, Nicolae Mircea
Romania, Bucharest
Universitatea de Medicina si Farmacie Carol Davila Din Bucuresti
Tarnow, Lise
Denmark, Aarhus
Fakultetet Health
Denmark, Herlev
Steno Diabetes Center Copenhagen
Tuomilehto, Jaakko O.I.
Finland, Helsinki
Terveyden ja Hyvinvoinnin Laitos
Finland, Seinajoki
South Ostrobothnia Central Hospital
Austria, Krems an Der Donau
Donau-universität Krems
Saudi Arabia, Jeddah
King Abdulaziz University
Tryggvason, Karl
Sweden, Stockholm
Karolinska Institutet
Zerbini, Gianpaolo
Italy, Milan
Irccs Ospedale San Raffaele
Comeau, Mary E.
United States, Winston Salem
Wake Forest University School of Medicine
Langefeld, Carl D.
United States, Winston Salem
Wake Forest University School of Medicine
Godson, Catherine
United States, Boston
Harvard Medical School
Ireland, Dublin
University College Dublin
Hirschhorn, Joel N.
United States, Cambridge
Broad Institute
United States, Boston
Boston Children's Hospital
United States, Boston
Harvard Medical School
Maxwell, A. P.
United Kingdom, Belfast
Belfast City Hospital
Florez, Jose C.
United States, Boston
Harvard Medical School
Ireland, Dublin
Mater Misericordiae University Hospital
United States, Boston
Massachusetts General Hospital
Groop, Per Henrik
Finland, Helsinki
Folkhälsan Institute of Genetics
Finland, Helsinki
Helsinki University Hospital
Australia, Melbourne
Baker Heart and Diabetes Institute
Statistics
Citations: 61
Authors: 23
Affiliations: 23
Identifiers
Doi:
10.1681/ASN.2012111122
ISSN:
10466673
Research Areas
Genetics And Genomics
Noncommunicable Diseases
Study Design
Cohort Study
Case-Control Study
Study Approach
Systematic review
Participants Gender
Male
Female