2023
Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target
Roychowdhury T, Klarin D, Levin M, Spin J, Rhee Y, Deng A, Headley C, Tsao N, Gellatly C, Zuber V, Shen F, Hornsby W, Laursen I, Verma S, Locke A, Einarsson G, Thorleifsson G, Graham S, Dikilitas O, Pattee J, Judy R, Pauls-Verges F, Nielsen J, Wolford B, Brumpton B, Dilmé J, Peypoch O, Juscafresa L, Edwards T, Li D, Banasik K, Brunak S, Jacobsen R, Garcia-Barrio M, Zhang J, Rasmussen L, Lee R, Handa A, Wanhainen A, Mani K, Lindholt J, Obel L, Strauss E, Oszkinis G, Nelson C, Saxby K, van Herwaarden J, van der Laan S, van Setten J, Camacho M, Davis F, Wasikowski R, Tsoi L, Gudjonsson J, Eliason J, Coleman D, Henke P, Ganesh S, Chen Y, Guan W, Pankow J, Pankratz N, Pedersen O, Erikstrup C, Tang W, Hveem K, Gudbjartsson D, Gretarsdottir S, Thorsteinsdottir U, Holm H, Stefansson K, Ferreira M, Baras A, Kullo I, Ritchie M, Christensen A, Iversen K, Eldrup N, Sillesen H, Ostrowski S, Bundgaard H, Ullum H, Burgess S, Gill D, Gallagher K, Sabater-Lleal M, Surakka I, Jones G, Bown M, Tsao P, Willer C, Damrauer S. Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target. Nature Genetics 2023, 55: 1831-1842. PMID: 37845353, PMCID: PMC10632148, DOI: 10.1038/s41588-023-01510-y.Peer-Reviewed Original ResearchConceptsAbdominal aortic aneurysmDevelopment of AAAAortic aneurysmNonhigh-density lipoprotein cholesterolLipid metabolismExtracellular matrix dysregulationClinical risk factorsPreclinical mouse modelsGrowth factor β signalingLipoprotein cholesterolMatrix dysregulationIndependent associationRisk factorsPCSK9 lossDiscovery cohortPolygenic risk scoresRisk lociAAA pathogenesisMouse modelRisk scoreTherapeutic targetAAA riskΒ signalingCommon diseaseMendelian randomization
2018
Comprehensive functional genomic resource and integrative model for the human brain
Wang D, Liu S, Warrell J, Won H, Shi X, Navarro FCP, Clarke D, Gu M, Emani P, Yang YT, Xu M, Gandal MJ, Lou S, Zhang J, Park JJ, Yan C, Rhie SK, Manakongtreecheep K, Zhou H, Nathan A, Peters M, Mattei E, Fitzgerald D, Brunetti T, Moore J, Jiang Y, Girdhar K, Hoffman GE, Kalayci S, Gümüş ZH, Crawford GE, Roussos P, Akbarian S, Jaffe A, White K, Weng Z, Sestan N, Geschwind D, Knowles J, Gerstein M, Ashley-Koch A, Crawford G, Garrett M, Song L, Safi A, Johnson G, Wray G, Reddy T, Goes F, Zandi P, Bryois J, Jaffe A, Price A, Ivanov N, Collado-Torres L, Hyde T, Burke E, Kleiman J, Tao R, Shin J, Akbarian S, Girdhar K, Jiang Y, Kundakovic M, Brown L, Kassim B, Park R, Wiseman J, Zharovsky E, Jacobov R, Devillers O, Flatow E, Hoffman G, Lipska B, Lewis D, Haroutunian V, Hahn C, Charney A, Dracheva S, Kozlenkov A, Belmont J, DelValle D, Francoeur N, Hadjimichael E, Pinto D, van Bakel H, Roussos P, Fullard J, Bendl J, Hauberg M, Mangravite L, Peters M, Chae Y, Peng J, Niu M, Wang X, Webster M, Beach T, Chen C, Jiang Y, Dai R, Shieh A, Liu C, Grennan K, Xia Y, Vadukapuram R, Wang Y, Fitzgerald D, Cheng L, Brown M, Brown M, Brunetti T, Goodman T, Alsayed M, Gandal M, Geschwind D, Won H, Polioudakis D, Wamsley B, Yin J, Hadzic T, De La Torre Ubieta L, Swarup V, Sanders S, State M, Werling D, An J, Sheppard B, Willsey A, White K, Ray M, Giase G, Kefi A, Mattei E, Purcaro M, Weng Z, Moore J, Pratt H, Huey J, Borrman T, Sullivan P, Giusti-Rodriguez P, Kim Y, Sullivan P, Szatkiewicz J, Rhie S, Armoskus C, Camarena A, Farnham P, Spitsyna V, Witt H, Schreiner S, Evgrafov O, Knowles J, Gerstein M, Liu S, Wang D, Navarro F, Warrell J, Clarke D, Emani P, Gu M, Shi X, Xu M, Yang Y, Kitchen R, Gürsoy G, Zhang J, Carlyle B, Nairn A, Li M, Pochareddy S, Sestan N, Skarica M, Li Z, Sousa A, Santpere G, Choi J, Zhu Y, Gao T, Miller D, Cherskov A, Yang M, Amiri A, Coppola G, Mariani J, Scuderi S, Szekely A, Vaccarino F, Wu F, Weissman S, Roychowdhury T, Abyzov A. Comprehensive functional genomic resource and integrative model for the human brain. Science 2018, 362 PMID: 30545857, PMCID: PMC6413328, DOI: 10.1126/science.aat8464.Peer-Reviewed Original ResearchConceptsQuantitative trait lociCell type proportionsComprehensive functional genomics resourceExpression quantitative trait lociFunctional genomics resourcesSingle-cell expression profilesGene regulatory networksFurther quantitative trait lociPsychENCODE ConsortiumGenomic resourcesComprehensive online resourceRegulatory networksKey genesCross-population variationExpression profilesMolecular mechanismsCell typesGenesAdult brainPolygenic risk scoresStudy variantsChromatinSplicingGenetic riskInterpretable deep learning model