ArticleExperimental and molecular pathology2018
Genetic variants in COL13A1, ADIPOQ and SAMM50, in addition to the PNPLA3 gene, confer susceptibility to elevated transaminase levels in an admixed Mexican population.
Article in Experimental and molecular pathology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Genome-Wide Association Study Identifies Loci for Liver Enzyme Concentrations in Mexican Americans: The GUARDIAN Consortium.Obesity (Silver Spring, Md.) · 2019Pooled it
- NAFLD-related SNPs are linked to changes in liver fat, as measured by the CAP score, and serum lipids in response to a 3-week sugar-sweetened beverage intervention: a pilot study.Food & function · 2026Trial
- Genetic modulators of metabolic dysfunction-associated steatotic liver disease (MASLD) and their epistatic interactions: from in vitro and animal models to clinical outcomes.BMC medical genomics · 2026Review
- Linked Intronic Polymorphisms of theInternational journal of molecular sciences · 2026Article
- An Exploratory Pharmacogenetic Pilot Study of Two Reverse Transcriptase Inhibitors, Tenofovir Alafenamide Fumarate and Tenofovir Disoproxil Fumarate.Drugs in R&D · 2025Article
- Polygenic Risk Score for Metabolic Dysfunction-Associated Steatotic Liver Disease and Steatohepatitis: A Narrative Review.International journal of molecular sciences · 2025Review
- Characterization of an At-Risk Population for Nonalcoholic Fatty Liver Disease (NAFLD) in a Primary Care Setting Along the U.S.-Mexico Border.Journal of transcultural nursing : official journal of the Transcultural Nursing Society · 2025Review
- Novel putative causal mutations associated with fat traits in Nellore cattle uncovered by eQTLs located in open chromatin regions.Scientific reports · 2024Article
- Genome-wide association study of metabolic dysfunction-associated fatty liver disease in a Korean population.Scientific reports · 2024Article
- The role of long non-coding RNAs and circular RNAs in cervical cancer: modulating miRNA function.Frontiers in cell and developmental biology · 2024Review
- Update on Non-Alcoholic Fatty Liver Disease-Associated Single Nucleotide Polymorphisms and Their Involvement in Liver Steatosis, Inflammation, and Fibrosis: A Narrative ReviewIranian biomedical journal · 2022Review
- Review
- Reassessment of the Hispanic Disparity: Hepatic Steatosis Is More Prevalent in Mexican Americans Than Other Hispanics.Hepatology communications · 2021Article
- Serum lipids are associated with nonalcoholic fatty liver disease: a pilot case-control study in Mexico.Lipids in health and disease · 2021Article
- Genetics Is of the Essence to Face NAFLD.Biomedicines · 2021Review
- [Quantitative analysis of differential proteins in liver tissues of patients with non-alcoholic steatohepatitis using iTRAQ technology].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2021Article
- The role of SAMM50 in non-alcoholic fatty liver disease: from genetics to mechanisms.FEBS open bio · 2021Article
- Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes.American journal of medical genetics. Part A · 2021Review
- Racial Disparities in Diagnosis and Prognosis of Nonalcoholic Fatty Liver Disease.Clinical liver disease · 2020Review
- GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.BMC medicine · 2019Article
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Authors and funding
14 authors at 6 institutions in 2 countries.
Funding
Abstract
Non-alcoholic fatty liver disease (NAFLD) is the accumulation of extra fat in liver cells not caused by alcohol. Elevated transaminase levels are common indicators of liver disease, including NAFLD. Previously, we demonstrated that PNPLA3 (rs738409), LYPLAL1 (rs12137855), PPP1R3B (rs4240624), and GCKR (rs780094) are associated with elevated transaminase levels in overweight/obese Mexican adults. We investigated the association between 288 SNPs identified in genome-wide association studies and risk of elevated transaminase levels in an admixed Mexican-Mestizo sample of 178 cases of NAFLD and 454 healthy controls. The rs2896019, rs12483959, and rs3810622 SNPs in PNPLA3 and rs1227756 in COL13A1 were associated with elevated alanine aminotransferase (ALT, ≥40IU/L). A polygenic risk score (PRS) based on six SNPs in the ADIPOQ, COL13A1, PNPLA3, and SAMM50 genes was also associated with elevated ALT. Individuals carrying 9-12 risk alleles had 65.8% and 48.5% higher ALT and aspartate aminotransferase (AST) levels, respectively, than those with 1-4 risk alleles. The PRS showed the greatest risk of elevated ALT levels, with a higher level of significance than the individual variants. Our findings suggest a significant association between variants in COL13A1, ADIPOQ, SAMM50, and PNPLA3, and risk of NAFLD/elevated transaminase levels in Mexican adults with an admixed ancestry. This is the first study to examine high-density single nucleotide screening for genetic variations in a Mexican-Mestizo population. The extent of the effect of these variations on the development and progression of NAFLD in Latino populations requires further analysis.
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