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A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
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A GWAS Study on Liver Function Test Using eMERGE Network Participants.

Bahram Namjou1, Keith Marsolo2, Todd Lingren2

  • 1Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, OH, United States of America; University of Cincinnati, College of Medicine, Cincinnati, OH, United States of America.

Plos One
|September 29, 2015
PubMed
Summary
This summary is machine-generated.

Genetic analysis confirms the UGT1A1 gene cluster significantly influences total serum bilirubin levels in both adults and children. This study identifies key genetic contributors to liver function test variations using electronic health records.

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Area of Science:

  • Genetics
  • Genomics
  • Biochemistry

Background:

  • Serum bilirubin and liver enzyme levels are influenced by genetic factors.
  • Genome-wide association studies (GWAS) have identified susceptibility loci for these traits.
  • Electronic health records provide valuable data for genetic association studies.

Purpose of the Study:

  • To identify genetic contributors to serum bilirubin and liver function test variability.
  • To compare genetic effects on liver function tests between adult and pediatric populations.
  • To leverage the Electronic Medical Records and Genomics (eMERGE) Network dataset for genetic discovery.

Main Methods:

  • Genome-wide imputation and quality control were performed on eMERGE Network data.
  • 3294 European ancestry samples were used for GWAS.
  • Linear regression was employed to test associations between SNPs and liver function tests, adjusting for covariates.

Main Results:

  • A strong association was found for the UGT1A gene cluster (rs887829) with total serum bilirubin in adults and a similar effect in pediatric populations.
  • Further analysis identified other associated markers, including TA7 repeat indels (rs8175347) and rs111741722.
  • Confirmed known associations for SLCO1B1-SLCO1B3, TDRP, and ZMYND8; identified ABO blood group locus association with alkaline phosphatase.

Conclusions:

  • The UGT1A1 locus is a primary driver of normal serum bilirubin variation in both adult and pediatric populations.
  • eMERGE electronic health record data effectively confirmed previously identified genetic effects on liver function tests.
  • Phenome-wide association studies suggested a protective effect of TA7 repeat against cerebrovascular disease.