Hemochromatosis gene and nonalcoholic fatty liver disease: A systematic review and meta-analysis

Ruben Hernaez, Edwina Yeung, Jeanne M. Clark, Kris V. Kowdley, Frederick L. Brancati, Wen Hong Linda Kao

Research output: Contribution to journalArticlepeer-review


Background & Aims: Previous studies examining the relationship between the C282Y and H63D HFE mutations and presence of nonalcoholic fatty liver disease (NAFLD) have yielded conflicting results. The goal of this study was to systematically evaluate and summarize data on the association between these two variants and the presence of NAFLD. Methods: The authors searched EMBASE and PUBMED from August 1, 1996 to August 12, 2010. Two investigators independently conducted data abstraction. Ethnic specific weighted prevalence was calculated and pooled odds ratios were estimated using the random effects model. Results: From 2542 references, the authors included 16 case-control studies and 14 case-only studies, or 2610 cases and 7298 controls. The majority of the studies came from Caucasian populations (2287 cases and 4275 controls). The weighted prevalence of HFE mutations in cases was comparable to controls. The meta-analysis was restricted to Caucasians only because of the small sample size of non Caucasian participants. The pooled odds ratio for the presence of any HFE genetic variant in cases was 1.03 (95%CI: 0.90, 1.17; I2: 65.8%, 95%CI: 38.5, 81.0). The presence of other genotypes and secondary analyses yielded similar non significant findings. Conclusions: Our systematic review does not support an association between the HFE genetic variants and the presence of NAFLD.

Original languageEnglish (US)
Pages (from-to)1079-1085
Number of pages7
JournalJournal of Hepatology
Issue number5
StatePublished - Nov 2011


  • Case-control studies
  • Hemochromatosis
  • Iron
  • Meta-analysis
  • Steatosis

ASJC Scopus subject areas

  • Hepatology


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