J Pediatr Gastroenterol Nutr. 2012 May;54(5):588-93.

LPIN1 rs13412852 polymorphism in pediatric nonalcoholic fatty liver disease.
Valenti L, Motta BM, Alisi A, Sartorelli R, Buonaiuto G, Dongiovanni P, Rametta R, Pelusi S, Fargion S, Nobili V.
Department of Internal Medicine, Università degli Studi, Ospedale Maggiore Policlinico Ca' Granda IRCCS, Milan, Italy. luca.valenti@unimi.it

Abstract

OBJECTIVES: 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.