ArticleHuman genetics2008
Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population.
Article in Human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 18 citations in OpenAlex.
- Genome-wide association study identifies pharmacogenomic loci linked with specific antihypertensive drug treatment and new-onset diabetes.The pharmacogenomics journal · 2018Trial
- Molecular-Genetic Basis of Pulmonary Arterial Hypertension (PAH).Current issues in molecular biology · 2026Review
- Differential Effects ofGenes · 2023Article
- Genetics of diabetes complications.Mammalian genome : official journal of the International Mammalian Genome Society · 2014Review
- A systems view of genetics in chronic kidney disease.Kidney international · 2012Review
- The genetics of common kidney disease: a pathway toward clinical relevance.Nature reviews. Nephrology · 2011Review
- Discovery of genes related to diabetic nephropathy in various animal models by current techniques.Contributions to nephrology · 2011Article
- Insights to the genetics of diabetic nephropathy through a genome-wide association study of the GoKinD collection.Seminars in nephrology · 2010Review
- Common variants of inflammatory cytokine genes are associated with risk of nephropathy in type 2 diabetes among Asian Indians.PloS one · 2009Article
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Authors and funding
4 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Nephropathy is a common microvascular complication of diabetes with a genetic component for disease development. Genetic analyses have implicated multiple chromosomal regions for disease susceptibility but no single locus can account for the majority of the genetic component. Here, we report a genetic analysis of the PLEKHH2 gene that was identified through a single nucleotide polymorphism (SNP) genome-wide association study (GWAS) for association with the development of diabetic nephropathy (DN) in the Genetics of Kidneys in Diabetes (GoKinD) study population. We initially examined the GWAS results from a subset of the GoKinD singleton population based on the two most common HLA diplotypes consisting of 112 cases and 148 controls. We observed two-adjacent markers mapping to the PLEKHH2 locus, rs1368086 and rs725238, each associated at P < 0.001. Additional SNPs were selected for linkage disequilibrium mapping and transmission disequilibrium testing (TdT) in 246 case trio families. A single marker, rs11886047, located upstream of the PLEKHH2 promoter was associated with DN by TdT in the case trios (P = 0.0307), and there was a increase of heterozygous genotypes in cases, relative to controls, from the 601 case and 577 control GoKinD singleton case/control population (P = 0.00256). These findings suggest that PLEKHH2, which has mRNA and protein expression exclusively in the glomerulus, may be a genetic risk factor for susceptibility to DN in the GoKinD population.
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