ArticlePLoS genetics2010
A single nucleotide polymorphism within the acetyl-coenzyme A carboxylase beta gene is associated with proteinuria in patients with type 2 diabetes.
Article in PLoS genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 3 of them syntheses that pooled it.
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Who cites it
59 citing papers in PubMed, 3 syntheses or guidelines pooled it, 94 citations in OpenAlex.
- 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
- The association between lipid metabolism gene polymorphisms and nephropathy in type 2 diabetes: a meta-analysis.International urology and nephrology · 2015Pooled it
- Genome-Wide Association Studies of Diabetic Kidney Disease in East Asians With Type 2 Diabetes: Achievements and Future Perspectives.Current medicinal chemistry · 2026Review
- Genetic studies of type 2 diabetes, and microvascular complications of diabetes.Diabetology international · 2024Review
- Association between protein arginineJournal of clinical & translational endocrinology · 2024Article
- Molecular mechanism of renal lipid accumulation in diabetic kidney disease.Journal of cellular and molecular medicine · 2024Review
- Variation in Acetyl-CoA Carboxylase Beta Gene and Its Effect on Carcass and Meat Traits in Gannan Yaks.International journal of molecular sciences · 2023Article
- Kidney lipid dysmetabolism and lipid droplet accumulation in chronic kidney disease.Nature reviews. Nephrology · 2023Review
- Progress in genetics of type 2 diabetes and diabetic complications.Journal of diabetes investigation · 2023Review
- Identification of genetic variants associated with diabetic kidney disease in multiple Korean cohorts via a genome-wide association study mega-analysis.BMC medicine · 2023Article
- Association between serum total bilirubin and diabetic kidney disease in US diabetic patients.Frontiers in endocrinology · 2023Article
- ROCK2-induced metabolic rewiring in diabetic podocytopathy.Communications biology · 2022Article
- The single nucleotide polymorphism rs11643718 in SLC12A3 is associated with the development of diabetic kidney disease in Chinese people with type 2 diabetes.Diabetic medicine : a journal of the British Diabetic Association · 2020Article
- Association betweenJournal of diabetes research · 2020Article
- The Susceptibility Genes in Diabetic Nephropathy.Kidney diseases (Basel, Switzerland) · 2018Review
- Validation of differentially methylated microRNAs identified from an epigenome-wide association study; Sanger and next generation sequencing approaches.BMC research notes · 2018Article
- Genome-wide association studies of albuminuria: towards genetic stratification in diabetes?Journal of nephrology · 2018Review
- Diabetic Microvascular Disease: An Endocrine Society Scientific Statement.The Journal of clinical endocrinology and metabolism · 2017Review
- Docking ofOncotarget · 2017Article
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Authors and funding
31 authors at 17 institutions in 6 countries.
Funding
Abstract
It has been suggested that genetic susceptibility plays an important role in the pathogenesis of diabetic nephropathy. A large-scale genotyping analysis of gene-based single nucleotide polymorphisms (SNPs) in Japanese patients with type 2 diabetes identified the gene encoding acetyl-coenzyme A carboxylase beta (ACACB) as a candidate for a susceptibility to diabetic nephropathy; the landmark SNP was found in the intron 18 of ACACB (rs2268388: intron 18 +4139 C > T, p = 1.4x10(-6), odds ratio = 1.61, 95% confidence interval [CI]: 1.33-1.96). The association of this SNP with diabetic nephropathy was examined in 9 independent studies (4 from Japan including the original study, one Singaporean, one Korean, and two European) with type 2 diabetes. One case-control study involving European patients with type 1 diabetes was included. The frequency of the T allele for SNP rs2268388 was consistently higher among patients with type 2 diabetes and proteinuria. A meta-analysis revealed that rs2268388 was significantly associated with proteinuria in Japanese patients with type 2 diabetes (p = 5.35 x 10(-8), odds ratio = 1.61, 95% Cl: 1.35-1.91). Rs2268388 was also associated with type 2 diabetes-associated end-stage renal disease (ESRD) in European Americans (p = 6 x 10(-4), odds ratio = 1.61, 95% Cl: 1.22-2.13). Significant association was not detected between this SNP and nephropathy in those with type 1 diabetes. A subsequent in vitro functional analysis revealed that a 29-bp DNA fragment, including rs2268388, had significant enhancer activity in cultured human renal proximal tubular epithelial cells. Fragments corresponding to the disease susceptibility allele (T) had higher enhancer activity than those of the major allele. These results suggest that ACACB is a strong candidate for conferring susceptibility for proteinuria in patients with type 2 diabetes.
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