Summary statistics are available for download from the GWAS Catalog.
Publications
GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.
Namjou B,et al.
BMC Med. 2019 Jul 17;17(1):135. doi: 10.1186/s12916-019-1364-z.
PMID:31311600
Phenotypes
- NAFLD
- NAFLD Activity Score (NAS)
- Liver fibrosis score in NAFLD
Experiment summary
This study, from the Electronic Medical Records and Genomics (eMERGE) Network, analyzed genetic associations with non-alcoholic fatty liver disease (NAFLD) in 1,106 NAFLD cases and 8,571 controls, including 1,242 pediatric participants (396 cases, 846 controls). NAFLD cases were identified from electronic medical records using a natural language processing algorithm.
Using histological data from liver tissue, available from 235 participants, genetic associations were also analyzed for the NAFLD Activity Score (NAS) and for a liver fibrosis score. The NAS is derived from an unweighted sum of scores of liver steatosis (0–3), lobular inflammation (0–3), and hepatocellular ballooning (0–2), ranging between 0 and 8. Coexistent fibrosis also has a separate scoring range of 0–4, consisting of no fibrosis (0), perisinusoidal or periportal (1), portal (2), bridging fibrosis (3), and cirrhosis (4).