ArticleJournal of the American Society of Nephrology : JASN2013
Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes.
Article in Journal of the American Society of Nephrology : JASN, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 5 of them syntheses that pooled it.
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40 citing papers in PubMed, 5 syntheses or guidelines pooled it, 74 citations in OpenAlex.
- Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease.Diabetologia · 2022Pooled it
- Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.Nature communications · 2021Pooled it
- Confirmation of GLRA3 as a susceptibility locus for albuminuria in Finnish patients with type 1 diabetes.Scientific reports · 2018Pooled it
- A variant within the FTO confers susceptibility to diabetic nephropathy in Japanese patients with type 2 diabetes.PloS one · 2018Pooled it
- Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND).PLoS genetics · 2015Pooled it
- Gene modification: Exploring the potential in treating kidney diseases.Pharmacological research · 2026Review
- Role of nuclear receptors, lipid metabolism, and mitochondrial function in the pathogenesis of diabetic kidney disease.American journal of physiology. Renal physiology · 2025Review
- Integrated multiomic analyses: An approach to improve understanding of diabetic kidney disease.Diabetic medicine : a journal of the British Diabetic Association · 2025Review
- Review
- Genetic studies of type 2 diabetes, and microvascular complications of diabetes.Diabetology international · 2024Review
- Progress in genetics of type 2 diabetes and diabetic complications.Journal of diabetes investigation · 2023Review
- A genome-wide association study identifies a possible role for cannabinoid signalling in the pathogenesis of diabetic kidney disease.Scientific reports · 2023Article
- Genetic and epigenetic background of diabetic kidney disease.Frontiers in endocrinology · 2023Review
- Genetic overlap between type 1 diabetes and other autoimmune diseases.Seminars in immunopathology · 2022Review
- Harnessing the Full Potential of Multi-Omic Analyses to Advance the Study and Treatment of Chronic Kidney Disease.Frontiers in nephrology · 2022Review
- Gender Differences in Diabetic Kidney Disease: Focus on Hormonal, Genetic and Clinical Factors.International journal of molecular sciences · 2021Review
- Assessment of differentially methylated loci in individuals with end-stage kidney disease attributed to diabetic kidney disease: an exploratory study.Clinical epigenetics · 2021Article
- Scientific Advances in Diabetes: The Impact of the Innovative Medicines Initiative.Frontiers in medicine · 2021Review
- Genetics of diabetes mellitus and diabetes complications.Nature reviews. Nephrology · 2020Review
- DNA Methylation Associated With Diabetic Kidney Disease in Blood-Derived DNA.Frontiers in cell and developmental biology · 2020Article
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25 authors at 12 institutions in 9 countries.
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Abstract
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 α 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 estrogen-responsive 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.
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