ArticleAmerican journal of human genetics2008
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01122797 (Study of Metabolism Influence in Human Alcoholic Liver Disease), which is not on this map. Cited by 227 papers, 15 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Study of Metabolism Influence in Human Alcoholic Liver Disease
Who cites it
227 citing papers in PubMed, 15 syntheses or guidelines pooled it, 465 citations in OpenAlex.
- Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.Nature communications · 2021Pooled it
- Association of ABO polymorphisms and pancreatic Cancer/ Cardiocerebrovascular disease: a meta-analysis.BMC medical genetics · 2020Pooled it
- ABO blood groups and hepatitis B virus infection: a systematic review and meta-analysis.BMJ open · 2020Pooled it
- Genome-Wide Association Study Identifies Loci for Liver Enzyme Concentrations in Mexican Americans: The GUARDIAN Consortium.Obesity (Silver Spring, Md.) · 2019Pooled it
- Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD.PLoS genetics · 2016Pooled it
- Meta-analysis of the influence of TM6SF2 E167K variant on Plasma Concentration of Aminotransferases across different Populations and Diverse Liver Phenotypes.Scientific reports · 2016Pooled it
- Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans.PloS one · 2016Pooled it
- Association between ABO gene polymorphism (rs505922) and cancer risk: a meta-analysis.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2015Pooled it
- PNPLA3 Gene Polymorphism Is Associated With Predisposition to and Severity of Alcoholic Liver Disease.The American journal of gastroenterology · 2015Pooled it
- The rs738409 (I148M) variant of the PNPLA3 gene and cirrhosis: a meta-analysis.Journal of lipid research · 2015Pooled it
- The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study.Atherosclerosis · 2013Pooled it
- A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.PLoS genetics · 2012Pooled it
- Pooled it
- Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.Nature genetics · 2011Pooled it
- Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.PLoS genetics · 2011Pooled it
- Patatin-like phosphatase domain-containing 3 genotype and quality of dietary fat modify the liver adiposity in men.European journal of nutrition · 2026Trial
- Trial
- PNPLA3 polymorphisms and liver aminotransferase levels in a Mexican American population.Clinical and investigative medicine. Medecine clinique et experimentale · 2012Trial
- Transient culture of adult human hepatocytes as organoids improves engineered liver engraftment.Biomaterials · 2027Article
- The convergent roles of metabolic dysfunction, alcohol, and iron in steatotic liver disease: a review.Bioscience reports · 2026Review
167 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors at 8 institutions in 3 countries.
Funding
Abstract
Plasma liver-enzyme tests are widely used in the clinic for the diagnosis of liver diseases and for monitoring the response to drug treatment. There is considerable evidence that human genetic variation influences plasma levels of liver enzymes. However, such genetic variation has not been systematically assessed. In the present study, we performed a genome-wide association study of plasma liver-enzyme levels in three populations (total n = 7715) with replication in three additional cohorts (total n = 4704). We identified two loci influencing plasma levels of alanine-aminotransferase (ALT) (CPN1-ERLIN1-CHUK on chromosome 10 and PNPLA3-SAMM50 on chromosome 22), one locus influencing gamma-glutamyl transferase (GGT) levels (HNF1A on chromosome 12), and three loci for alkaline phosphatase (ALP) levels (ALPL on chromosome 1, GPLD1 on chromosome 6, and JMJD1C-REEP3 on chromosome 10). In addition, we confirmed the associations between the GGT1 locus and GGT levels and between the ABO locus and ALP levels. None of the ALP-associated SNPs were associated with other liver tests, suggesting intestine and/or bone specificity. The mechanisms underlying the associations may involve cis- or trans-transcriptional effects (some of the identified variants were associated with mRNA transcription in human liver or lymphoblastoid cells), dysfunction of the encoded proteins (caused by missense variations at the functional domains), or other unknown pathways. These findings may help in the interpretation of liver-enzyme tests and provide candidate genes for liver diseases of viral, metabolic, autoimmune, or toxic origin. The specific associations with ALP levels may point to genes for bone or intestinal diseases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.