2023
Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program
Klarin D, Devineni P, Sendamarai A, Angueira A, Graham S, Shen Y, Levin M, Pirruccello J, Surakka I, Karnam P, Roychowdhury T, Li Y, Wang M, Aragam K, Paruchuri K, Zuber V, Shakt G, Tsao N, Judy R, Vy H, Verma S, Rader D, Do R, Bavaria J, Nadkarni G, Ritchie M, Burgess S, Guo D, Ellinor P, LeMaire S, Milewicz D, Willer C, Natarajan P, Tsao P, Pyarajan S, Damrauer S. Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program. Nature Genetics 2023, 55: 1106-1115. PMID: 37308786, PMCID: PMC10335930, DOI: 10.1038/s41588-023-01420-z.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesAssociation studiesMillion Veteran ProgramProtein-altering variantsHuman genetic evidenceGenetic architectureComplex traitsGenetic evidenceDNA sequencesRisk lociMendelian formsRisk genesCell typesGenetic determinantsVeteran ProgramCurrent understandingGenesLociTraitsTAADReplicationSequenceVariants
2020
GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer
Zhou W, Brumpton B, Kabil O, Gudmundsson J, Thorleifsson G, Weinstock J, Zawistowski M, Nielsen JB, Chaker L, Medici M, Teumer A, Naitza S, Sanna S, Schultheiss UT, Cappola A, Karjalainen J, Kurki M, Oneka M, Taylor P, Fritsche LG, Graham SE, Wolford BN, Overton W, Rasheed H, Haug EB, Gabrielsen ME, Skogholt AH, Surakka I, Davey Smith G, Pandit A, Roychowdhury T, Hornsby WE, Jonasson JG, Senter L, Liyanarachchi S, Ringel MD, Xu L, Kiemeney LA, He H, Netea-Maier RT, Mayordomo JI, Plantinga TS, Hrafnkelsson J, Hjartarson H, Sturgis EM, Palotie A, Daly M, Citterio CE, Arvan P, Brummett CM, Boehnke M, de la Chapelle A, Stefansson K, Hveem K, Willer CJ, Åsvold BO. GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer. Nature Communications 2020, 11: 3981. PMID: 32769997, PMCID: PMC7414135, DOI: 10.1038/s41467-020-17718-z.Peer-Reviewed Original ResearchConceptsPleiotropic effectsGenome-wide significant lociPhenome-wide association analysisSignificant lociGenetic markersAssociation analysisUK BiobankNormal developmentFunctional experimentsIndex variantsGenetic contributionGWASTwo-sample Mendelian randomizationPolygenic scoresVariantsMendelian randomizationLociG67Independent studiesThyroid cancerMetabolismBiobankHormoneThyroglobulin secretion