Association of Bright Liver with the PNPLA3 I148M Gene Variant in 1-year-old Toddlers

Giorgio Bedogni, Giuseppe De Matteis, Marta Fabrizi, Anna Alisi, Annalisa Crudele, Fabrizio Pizzolante, Fabrizio Signore, Bruno Dallapiccola, Valerio Nobili, Melania Manco

Research output: Contribution to journalArticlepeer-review


Context: Non-alcoholic fatty liver disease (NAFLD) is being increasingly diagnosed at younger ages, pointing toward an early-life origin.

Objective: To evaluate the frequency and risk factors for bright liver (BL) in 1-year toddlers.

Design: Secondary analysis of the 1-year follow-up of the Feeding Study.

Setting: General population.

Participants: Among 505 mother-toddler pairs, 391 children (77%) underwent liver and abdominal ultrasonography at the 1-year follow-up.

Main Outcome: BL as diagnosed by ultrasonography.

Exposures: child PNPLA3 and TM6SF2 gene variants; child anthropometry at birth and at 1 year of follow-up; child subcutaneous (SAT), visceral (VAT) and epicardial (EAT) adipose tissue at 1 year of follow-up; maternal anthropometry at the start and at the end of pregnancy; maternal red blood cell fatty acid composition at the 3rd semester of pregnancy.

Results: 17 (4%) of 391 toddlers had BL. As compared to the toddlers with the PNPLA 3 CC genotype, the odds (95%CI) of BL were 3.01 (1.05 to 8.64, p < 0.05) times higher in those with the PNAPLA3 CG genotype and 5.37 (1.12 to 25.77, p < 0.05) higher in those with the PNPLA3 CC genotype. We found no association between BL status and TM6SF2. Body weight, body mass index and maternal weight gain during pregnancy were higher in BL+ than in BL- children. VAT was higher but SAT and EAT were similar in BL+ and BL- children.

Conclusions: 4% of the Feeding Study children had BL at one year of age. In line with expectations, PNAPLA3 was a predictor of BL already at this early age.

Original languageEnglish
JournalThe Journal of clinical endocrinology and metabolism
Publication statusE-pub ahead of print - Jan 14 2019


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