title: Paraoxonase 1 polymorphisms (L55M and Q192R) as a genetic marker of diabetic nephropathy in youth with type 1 diabetes.
abstract: BACKGROUND
  Paraoxonase 1 (PON1) polymorphisms have been largely involved in diabetes complications. The aim of the study is to evaluate the effects of PON1 polymorphisms (L55M and Q192R) on diabetic nephropathy (DN).
  
  
  METHODS
  The study involved 116 children and adolescents with type 1 diabetes (T1D) and 91 healthy subjects. Albumin excretion rate (AER) was determined by immunoturbidimetry. PON1 activity was measured by a spectrophotometric method, and genotyping of PON1 gene was assessed by multiplex PCR followed by RFLP.
  
  
  RESULTS
  PON1 activity was inversely correlated to AER (r = -0.245, p = 0.008). A significant decrease (p = 0.037) in PON1 activity was shown between patients with nephropathy and those without (162 [57-618] vs. 316 [37-788] IU/L, respectively). The distribution of AER was, for L55M polymorphism MM > LM > LL (p = 0.002), and for Q192R polymorphism QQ > QR > RR (p < 0.001). The opposite distribution was noted for PON 1 activity (p < 0.001). LMQQ and MMQQ haplotypes seem to increase AER (p = 0.004, p = 0.003, respectively) and to reduce PON1 activity (p = 0.011, p = 0.052, respectively) in youths with T1D. However, LLRR haplotype seems to have the opposite effect.
  
  
  CONCLUSIONS
  This study demonstrated that PON1 polymorphisms L55M and Q192R seem to be genetic markers involved in the development of DN in T1D. (Endokrynol Pol 2017; 68 (1): 35-41).
authors.affiliation: Laboratory of Biochemistry and Toxicology, Monastir's University Hospital, Tunisia; Biochemistry Department, LR 12 SP11, Sahloul's University Hospital, Sousse, Tunisia. onsfekihsallem@gmail.com.
authors.forename: Ons
authors.initials: O
authors.lastname: Fekih
authors.forename: Sonia
authors.initials: S
authors.lastname: Triki
authors.forename: Jihene
authors.initials: J
authors.lastname: Rejeb
authors.forename: Fadoua
authors.initials: F
authors.lastname: Neffati
authors.forename: Wahiba
authors.initials: W
authors.lastname: Douki
authors.forename: Asma
authors.initials: A
authors.lastname: Ommezzine
authors.forename: Slaheddine
authors.initials: S
authors.lastname: Chouchane
authors.forename: Mohamed Neji
authors.initials: MN
authors.lastname: Guediche
authors.forename: Ali
authors.initials: A
authors.lastname: Bouslama
authors.forename: Mohamed Fadhel
authors.initials: MF
authors.lastname: Najjar
mesh_terms: D000293:Adolescent; D043303:Aryldialkylphosphatase / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000201:enzymology* / Q000235:genetics; D003928:Diabetic Nephropathies / Q000201:enzymology* / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D043303:Aryldialkylphosphatase; C468406:PON1 protein, human
keywords: diabetic nephropathy; paraoxonase 1 activity; paraoxonase 1 polymorphisms; type 1 diabetes