title: Association of rs 3807337 polymorphism of CALD1 gene with diabetic nephropathy occurrence in type 1 diabetes - preliminary results of a family-based study.
abstract: BACKGROUND
  The worldwide growing burden of diabetes and end-stage renal disease due to diabetic nephropathy has become the reason for research looking for a single marker of chronic kidney disease development and progression that can be found in the early stages of the disease, when preventive action delaying the destructive process could be performed. The aim of the study was to investigate the influence of rs3807337 polymorphism of the caldesmon 1 (CALD1) gene located on the long arm of chromosome 7 encoding for protein that is connected with physiological kidney function on development of diabetic nephropathy.
  
  
  METHODS
  There was an association study of rs3807337 polymorphism of the CALD1 gene in parent-offspring trios by PCRRFLP method. Ninety-nine subjects: 33 patients with diabetic nephropathy due to type 1 diabetes and 66 of their biological parents, were examined. The mode of alleles transmission from heterozygous parents to affected offspring was determined using the transmission disequilibrium test.
  
  
  RESULTS
  The allele G of rs3807337 polymorphism of the CALD1 gene was transmitted to affected offspring significantly more often than expected for no association.
  
  
  CONCLUSIONS
  The obtained results suggest that the genetic variability of the CALD1 gene may influence the development of diabetic nephropathy in type 1 diabetes, but further studies involving larger studied groups of patients are needed. (Endokrynol Pol 2017; 68 (1): 13-17).
authors.forename: Mirosław
authors.initials: M
authors.lastname: Śnit
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Nabrdalik
authors.affiliation: Department of Internal Medicine, Diabetology and Nephrology, Medical University of Silesia, Zabrze, Poland. michaldlugaszek@gmail.com.
authors.forename: Michał
authors.initials: M
authors.lastname: Długaszek
authors.forename: Janusz
authors.initials: J
authors.lastname: Gumprecht
authors.forename: Wanda
authors.initials: W
authors.lastname: Trautsolt
authors.forename: Sylwia
authors.initials: S
authors.lastname: Górczyńska-Kosiorz
authors.forename: Władysław
authors.initials: W
authors.lastname: Grzeszczak
mesh_terms: D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics / Q000378:metabolism*; D003928:Diabetic Nephropathies / Q000235:genetics / Q000378:metabolism*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide
chemical_list: D002148:Calmodulin-Binding Proteins
keywords: CALD1; diabetic nehropathy; gene polymorphism; type 1 diabetes