2023
High-frequency variants in PKA signaling-related genes within a large pediatric cohort with obesity or metabolic abnormalities
Bloyd M, Sinaii N, Faucz F, Iben J, Coon S, Caprio S, Santoro N, Stratakis C, London E. High-frequency variants in PKA signaling-related genes within a large pediatric cohort with obesity or metabolic abnormalities. Frontiers In Endocrinology 2023, 14: 1272939. PMID: 38027204, PMCID: PMC10679389, DOI: 10.3389/fendo.2023.1272939.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesSignaling-related genesProtein kinaseHigh-frequency variantsCAMP-dependent protein kinaseLarge-scale genome-wide association studiesNew genetic associationsPDE11A geneGenomic DNAAssociation studiesMonogenic obesityTargeted exome sequencingGenesGenetic variantsEnergy metabolismGenetic associationExome sequencingNovel variantsVariant searchMetabolic characteristicsVariantsKinaseType II diabetesLociSequencing
2020
rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis
Teo K, Abeysekera KWM, Adams L, Aigner E, Anstee QM, Banales JM, Banerjee R, Basu P, Berg T, Bhatnagar P, Buch S, Canbay A, Caprio S, Chatterjee A, Chen Y, Chowdhury A, Daly AK, Datz C, de Gracia Hahn D, DiStefano JK, Dong J, Duret A, Investigators E, Vreugdenhil A, Alisi A, Socha P, Jańczyk W, Baumann U, Rajwal S, van Mourik I, Lacaille F, Dabbas M, Kelly D, Nobili V, Emdin C, Fairey M, Gerhard G, Consortium G, Eiriksdottir G, Garcia M, Gudnason V, Harris T, Kim L, Launer L, Nalls M, Smith A, Clark J, Hernaez R, Kao W, Mitchell B, Shuldiner A, Yerges-Armstrong L, Borecki I, Carr J, Feitosa M, Wu J, Butler J, Fox C, Hirschhorn J, Hoffmann U, Hwang S, Massaro J, O'Donnell C, Palmer C, Sahani D, Speliotes E, Guo X, Hampe J, Hickman M, Heintz L, Hudert C, Hunter H, Kelly M, Kozlitina J, Krawczyk M, Lammert F, Langenberg C, Lavine J, Li L, Lim H, Loomba R, Luukkonen P, Melton P, Mori T, Palmer N, Parisinos C, Pillai S, Qayyum F, Reichert M, Romeo S, Rotter J, Im Y, Santoro N, Schafmayer C, Speliotes E, Stender S, Stickel F, Still C, Strnad P, Taylor K, Tybjærg-Hansen A, Umano G, Utukuri M, Valenti L, Wagenknecht L, Wareham N, Watanabe R, Wattacheril J, Yaghootkar H, Yki-Järvinen H, Young K, Mann J. rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis. Journal Of Hepatology 2020, 74: 20-30. PMID: 32882372, PMCID: PMC7755037, DOI: 10.1016/j.jhep.2020.08.027.Peer-Reviewed Original ResearchConceptsFatty liver diseaseLiver diseaseAlanine aminotransferaseLiver fatRisk factorsSevere fatty liver diseaseCaucasian adultsHigh liver fatSpectrum of NAFLDDiagnosis of NAFLDSerum alanine aminotransferaseSeverity of NAFLDLower serum triglyceridesHigher alanine aminotransferaseCT/MRIDominant genetic modelRelated metabolic phenotypesGenome-wide association studiesPopulation-level dataNAFLD histologyAdvanced fibrosisLiver inflammationSerum triglyceridesHepatic fatAdvanced histology