2024
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis
Ghouse J, Sveinbjörnsson G, Vujkovic M, Seidelin A, Gellert-Kristensen H, Ahlberg G, Tragante V, Rand S, Brancale J, Vilarinho S, Lundegaard P, Sørensen E, Erikstrup C, Bruun M, Jensen B, Brunak S, Banasik K, Ullum H, Verweij N, Lotta L, Baras A, Mirshahi T, Carey D, Kaplan D, Lynch J, Morgan T, Schwantes-An T, Dochtermann D, Pyarajan S, Tsao P, Laisk T, Mägi R, Kozlitina J, Tybjærg-Hansen A, Jones D, Knowlton K, Nadauld L, Ferkingstad E, Björnsson E, Ulfarsson M, Sturluson Á, Sulem P, Pedersen O, Ostrowski S, Gudbjartsson D, Stefansson K, Olesen M, Chang K, Holm H, Bundgaard H, Stender S. Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis. Nature Genetics 2024, 56: 827-837. PMID: 38632349, PMCID: PMC11096111, DOI: 10.1038/s41588-024-01720-y.Peer-Reviewed Original ResearchMeSH KeywordsAlanine TransaminaseCarcinoma, HepatocellularCase-Control StudiesCohort StudiesFemaleGamma-GlutamyltransferaseGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansLipaseLiver CirrhosisLiver NeoplasmsMaleMembrane ProteinsMultifactorial InheritancePolymorphism, Single NucleotideRisk FactorsConceptsMulti-ancestry genome-wide association studyPolygenic risk scoresRare variant analysisVariant analysisGenome-wide association studiesRare coding variantsHepatocellular carcinomaLow alanine aminotransferaseRisk associationAlcohol intakePrioritized genesGenetic architectureNear genesAlanine aminotransferaseRisk scoreHepatic lipid metabolismAssociation studiesLiver cirrhosisGenetic underpinningsPNPLA3 p.Cirrhosis to hepatocellular carcinomaRisk of cirrhosisLiver function testsLipid metabolismGenes
2021
Genetic Variation in the Mitochondrial Glycerol‐3‐Phosphate Acyltransferase Is Associated With Liver Injury
Hakim A, Moll M, Brancale J, Liu J, Lasky‐Su J, Silverman EK, Vilarinho S, Jiang ZG, Pita‐Juárez Y, Vlachos IS, Zhang X, Åberg F, Afdhal NH, Hobbs BD, Cho MH. Genetic Variation in the Mitochondrial Glycerol‐3‐Phosphate Acyltransferase Is Associated With Liver Injury. Hepatology 2021, 74: 3394-3408. PMID: 34216018, PMCID: PMC8639615, DOI: 10.1002/hep.32038.Peer-Reviewed Original ResearchConceptsAlcohol-associated liver diseaseChronic liver diseaseLiver diseaseLiver injuryAlanine aminotransferaseAspartate aminotransferaseElevated body mass indexLevels of ALTDose-dependent riskFatty liver diseaseBody mass indexAlkaline phosphataseMass General Brigham BiobankWeekly alcohol consumptionGenetic variantsMitochondrial glycerol-3-phosphate acyltransferaseLiver biochemistryHDL cholesterolLDL cholesterolTotal cholesterolMass indexRevision codesVLDL productionGlycerol-3-phosphate acyltransferaseTotal bilirubin