Heritability of liver enzyme levels estimated from genome-wide SNP data

Eur J Hum Genet. 2015 Sep;23(9):1223-8. doi: 10.1038/ejhg.2014.259. Epub 2014 Nov 26.

Abstract

Variation in the liver enzyme levels in humans is moderately heritable, as indicated by twin-family studies. At present, genome-wide association studies have traced <2% of the variance back to genome-wide significant single-nucleotide polymorphisms (SNPs). We estimated the SNP-based heritability of levels of three liver enzymes (gamma-glutamyl transferase (GGT); alanine aminotransferase (ALT); and aspartate aminotransferase (AST)) using genome-wide SNP data in a sample of 5421 unrelated Dutch individuals. Two estimation methods for SNP-based heritability were compared, one based on the distant genetic relatedness among all subjects as summarized in a Genetic Relatedness Matrix (GRM), and the other one based on density estimation (DE). The DE method was also applied to meta-analysis results on GGT and ALT. GRM-derived SNP-based heritability estimates were significant for GGT (16%) and AST (11%), but not for ALT (6%). DE estimates in the same sample varied as a function of pruning and were around 23% for all liver enzymes. Application of the DE approach to meta-analysis results for GGT and ALT gave SNP-based heritability estimates of 6 and 3%. The significant results in the Dutch sample indicate that genome-wide SNP platforms contain substantial information regarding the underlying genetic variation in the liver enzyme levels. A major part of this genetic variation remains however undetected. SNP-based heritability estimates, based on meta-analysis results, may point at substantial heterogeneity among cohorts contributing to the meta-analysis. This type of analysis may provide useful information to guide future gene searches.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Alanine Transaminase / genetics*
  • Alanine Transaminase / metabolism
  • Aspartate Aminotransferases / genetics*
  • Aspartate Aminotransferases / metabolism
  • Female
  • Genome, Human
  • Genome-Wide Association Study
  • Humans
  • Inheritance Patterns*
  • Liver / chemistry
  • Liver / enzymology*
  • Male
  • Meta-Analysis as Topic
  • Middle Aged
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • gamma-Glutamyltransferase / genetics*
  • gamma-Glutamyltransferase / metabolism

Substances

  • gamma-Glutamyltransferase
  • Aspartate Aminotransferases
  • Alanine Transaminase