title: LPIN1 rs13412852 polymorphism in pediatric nonalcoholic fatty liver disease.
abstract: OBJECTIVE
  The aim of the present study was to evaluate whether the lipin1 rs13412852 C>T polymorphism is associated with nonalcoholic steatohepatitis and fibrosis in pediatric Italian patients with nonalcoholic fatty liver disease (NAFLD).
  
  
  METHODS
  A total of 142 untreated, consecutive children and 115 adults with biopsy-proven NAFLD and 337 healthy controls without steatosis were studied. Liver histology was assessed by the NAFLD activity score and the rs13412852 polymorphism by a 5' nuclease Taqman assay.
  
  
  RESULTS
  Homozygosity for the rs13412852 T allele was underrepresented in pediatric, but not adult, patients with NAFLD compared with healthy controls (7% vs 14%; odds ratio [OR] 0.58, 95% confidence interval [CI] 0.35-0.91), and it was associated with lower triglycerides both in pediatric patients and healthy controls (P ≤ 0.01). Affected children carrying the rs13412852 TT genotype had a trend for a lower prevalence of nonalcoholic steatohepatitis, and significantly less severe liver damage, as indicated by NAFLD activity score severity (P = 0.026) and a lower prevalence of liver fibrosis (P = 0.012). The negative association between rs13412852 TT genotype and fibrosis was independent of Patatin-like phospholipase domain-containing-3 genotype and other clinical risk factors, including age, waist circumference, the presence of hyperglycemia, and alanine transaminase levels (OR 0.29; 95% CI 0.11-0.66), and it was confirmed at multivariate analysis in adults (OR 0.15; 95% CI 0.02-0.67).
  
  
  CONCLUSIONS
  Lipin1 rs13412852 single nucleotide polymorphism is associated with the severity of liver damage and fibrosis progression in pediatric patients with histological NAFLD.
authors.affiliation: Department of Internal Medicine, Università degli Studi, Ospedale Maggiore Policlinico Ca' Granda IRCCS, Milan, Italy. luca.valenti@unimi.it
authors.forename: Luca
authors.initials: L
authors.lastname: Valenti
authors.forename: Benedetta Maria
authors.initials: BM
authors.lastname: Motta
authors.forename: Anna
authors.initials: A
authors.lastname: Alisi
authors.forename: Rita
authors.initials: R
authors.lastname: Sartorelli
authors.forename: Giulia
authors.initials: G
authors.lastname: Buonaiuto
authors.forename: Paola
authors.initials: P
authors.lastname: Dongiovanni
authors.forename: Raffaela
authors.initials: R
authors.lastname: Rametta
authors.forename: Serena
authors.initials: S
authors.lastname: Pelusi
authors.forename: Silvia
authors.initials: S
authors.lastname: Fargion
authors.forename: Valerio
authors.initials: V
authors.lastname: Nobili
mesh_terms: D000293:Adolescent; D000328:Adult; D000410:Alanine Transaminase / Q000378:metabolism; D000483:Alleles; D001706:Biopsy; D016022:Case-Control Studies; D002648:Child; D018450:Disease Progression; D005234:Fatty Liver / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D065626:Non-alcoholic Fatty Liver Disease; D010711:Phosphatidate Phosphatase / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D055105:Waist Circumference
chemical_list: D000410:Alanine Transaminase; C485999:LPIN1 protein, human; D010711:Phosphatidate Phosphatase