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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Genome-Wide Association Study of NAFLD Using Electronic Health Records.

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|September 18, 2021
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Summary
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This genome-wide association study identified six genetic risk loci for nonalcoholic fatty liver disease (NAFLD) in UK Biobank participants. The study found that the APOE ϵ4 allele is protective against developing NAFLD.

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Area of Science:

  • Genetics
  • Hepatology
  • Epidemiology

Background:

  • Nonalcoholic fatty liver disease (NAFLD) is a growing health concern with identified genetic risk factors.
  • Previous genome-wide association studies (GWAS) often used limited sample sizes and focused on quantitative traits.
  • Utilizing diagnostic codes offers a scalable approach to identifying NAFLD cases.

Purpose of the Study:

  • To conduct a large-scale case-control genome-wide association study (GWAS) for nonalcoholic fatty liver disease (NAFLD) using UK Biobank data.
  • To identify and validate genetic risk loci associated with NAFLD.
  • To investigate the role of the apolipoprotein E (APOE) ϵ4 allele in NAFLD susceptibility.

Main Methods:

  • A case-control GWAS was performed on 4,761 NAFLD cases and 373,227 controls from the UK Biobank.
  • Logistic regression analysis was used, adjusting for age, sex, genetic principal components, and genotyping batch.
  • Sensitivity analyses were conducted adjusting for body mass index (BMI), alcohol intake, and excluding other hepatic pathologies. A meta-analysis was also performed.

Main Results:

  • Six significant risk loci for NAFLD were identified: APOE, PNPLA3, TM6SF2, GCKR, MARC1, and TRIB1 (P < 5*10^-8).
  • All identified loci remained significant after adjustments for BMI and exclusion of co-existing hepatic pathology.
  • The ϵ4 allele of APOE demonstrated a protective effect against NAFLD, with lower odds ratios for heterozygotes and homozygotes.

Conclusions:

  • This GWAS successfully replicates six known NAFLD-susceptibility loci.
  • The findings confirm the protective association of the APOE ϵ4 allele against NAFLD.
  • NAFLD identification via diagnostic codes is a valid and cost-effective alternative to histological or radiological measures.