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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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.
GWAS does not require the identification of the target gene involved in...
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Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test01:22

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In clinical practice, the direct measurement of hepatic blood flow to evaluate liver function presents significant challenges due to the intricate and specialized nature of the necessary techniques. Consequently, healthcare professionals often rely on empirical estimates derived from thorough patient examinations and liver function tests to gauge liver health. Among the tools at their disposal, the Child–Pugh and MELD scoring systems stand out for their ability to categorize and assess...
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Chronic liver disease significantly impacts drug metabolism due to alterations in hepatic blood flow and enzyme accessibility. This disruption affects the body's pharmacokinetics—the movement and processing of drugs within the system. Key enzymes crucial for metabolizing medications become less accessible, changing how drugs are processed and utilized. Furthermore, liver disease influences the synthesis of plasma proteins, such as albumin and globulins, which play critical roles in drug...
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Human Liver Microphysiological System for Assessing Drug-Induced Liver Toxicity In Vitro
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Genome-wide association study on liver function tests in Chinese.

Sun Yidan1, Tian Zizhao1, Zhou Wei1

  • 1Bio-X Institute, Shanghai Jiaotong University, Shanghai 200030, China.

Yi Chuan = Hereditas
|March 16, 2021
PubMed
Summary

This genome-wide association study identified novel genetic variations linked to liver function tests (LFTs) in Chinese individuals. These findings offer insights into genetic influences on liver health and diseases like Gilbert's syndrome.

Keywords:
Liver function testsalkaline phosphatasegenome-wide association studytotal bilirubinγ-glutamyl transpeptidase

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Area of Science:

  • Genetics
  • Hepatology
  • Bioinformatics

Background:

  • Liver function tests (LFTs) reflect complex traits influenced by genetic and environmental factors.
  • Individual differences in LFTs may stem from unique genetic profiles.
  • Understanding these genetic associations is crucial for personalized medicine.

Purpose of the Study:

  • To conduct a genome-wide association study (GWAS) to identify single nucleotide polymorphisms (SNPs) associated with LFTs.
  • To evaluate the influence of genetic variations on liver function in the Chinese population.
  • To explore the clinical significance of identified SNPs and candidate genes.

Main Methods:

  • Genome-wide association study (GWAS) on 1653 Chinese subjects from the UK Biobank.
  • Analysis of associations between SNPs and liver function test parameters (TB, ALP, GGT, AST).
  • Functional genomic analysis to interpret the clinical relevance of significant SNPs.

Main Results:

  • Identified 229 SNPs associated with total bilirubin (TB), 27 with alkaline phosphatase (ALP), and 36 with γ-glutamyl transpeptidase (GGT).
  • Discovered one SNP associated with aspartate transaminase (AST).
  • The top 11 SNPs represent novel associations with LFTs, linked to genes like UGT1A, ABO, and GGT1, and diseases such as Gilbert's syndrome.

Conclusions:

  • This study highlights significant associations between specific SNPs and LFTs in the Chinese population.
  • Identified novel genetic markers influencing liver function and disease susceptibility.
  • Provides a foundation for further research into genetic determinants of liver health.