PNPLA3 gene in liver diseases

E Trépo, S Romeo, J Zucman-Rossi, P Nahon - Journal of hepatology, 2016 - Elsevier
Genome-wide association studies (GWAS) in the field of liver diseases have revealed
previously unknown pathogenic loci and generated new biological hypotheses. In 2008, a
GWAS performed in a population-based sample study, where hepatic liver fat content was
measured by magnetic spectroscopy, showed a strong association between a variant
(rs738409 C> G p. I148M) in the patatin-like phospholipase domain containing 3 (PNPLA3)
gene and nonalcoholic fatty liver disease. Further replication studies have shown robust …