title: Human genetics of diabetic nephropathy.
abstract: Diabetic vascular complications (DVCs) affecting several important organ systems of human body such as cardiovascular system contribute a major public health problem. Genetic factors contribute to the risk of diabetic nephropathy (DN). Genetics variants, structural variants (copy number variation) and epigenetic changes play important roles in the development of DN. Apart from nucleus genome, mitochondrial DNA (mtDNA) plays critical roles in regulation of development of DN. Epigenetic studies have indicated epigenetic changes in chromatin affecting gene transcription in response to environmental stimuli, which provided a large body of evidence of regulating development of diabetes mellitus. This review focused on the current knowledge of the genetic and epigenetic basis of DN. Ultimately, identification of genes or genetic loci, structural variants and epigenetic changes contributed to risk or protection of DN will benefit uncovering the complex mechanism underlying DN, with crucial implications for the development of personalized medicine to diabetes mellitus and its complications.
authors.affiliation: Department of Endocrinology and Metabolism, Shanghai Tongji Hospital, Tongji University School of Medicine , Shanghai , China.
authors.forename: Zi-Hui
authors.initials: ZH
authors.lastname: Tang
authors.forename: Fengfang
authors.initials: F
authors.lastname: Zeng
authors.forename: Xiu-Zhen
authors.initials: XZ
authors.lastname: Zhang
mesh_terms: D003928:Diabetic Nephropathies / Q000235:genetics*; D044127:Epigenesis, Genetic; D050556:Fatty Acid-Binding Proteins / Q000235:genetics; D059647:Gene-Environment Interaction; D020022:Genetic Predisposition to Disease; D051272:Glucose Transporter Type 1 / Q000235:genetics; D006801:Humans; D007703:Peptidyl-Dipeptidase A / Q000235:genetics; D010727:Phosphoric Diester Hydrolases / Q000235:genetics; D065840:Protective Factors; D011755:Pyrophosphatases / Q000235:genetics
chemical_list: C493404:FABP2 protein, human; D050556:Fatty Acid-Binding Proteins; D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human; D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A; D011755:Pyrophosphatases
keywords: Diabetic nephropathy; epigenetic; genetics; interactions of gene by environment; mitochondrial DNA