2025
Unveiling the shared etiology between gastrointestinal disorders and valvular heart diseases through a genome-wide pleiotropy study
Xu J, Liu Z, Wu L, Pei F, Jiang H, Cheng C, Yang W, Yuan J, Polimanti R, Yang Y. Unveiling the shared etiology between gastrointestinal disorders and valvular heart diseases through a genome-wide pleiotropy study. Npj Cardiovascular Health 2025, 2: 17. DOI: 10.1038/s44325-025-00054-w.Peer-Reviewed Original ResearchLinkage disequilibrium score regressionGenetic correlationsPleiotropic analysisPleiotropy analysisGut microbiotaGenetic pathwaysMicrobial influenceScore regressionPleiotropic effectsGenetic linkPathwayHeart diseaseButyricicoccusMicrobiotaGenesGutComposite null hypothesisVariantsGastrointestinal disordersCausal effectsLinkageDiseaseIBD
2023
Shared genetic architecture of blood eosinophil counts and asthma in UK Biobank
Li B, Wang Y, Wang Z, Li X, Kay S, Chupp G, Zhao H, Gomez J. Shared genetic architecture of blood eosinophil counts and asthma in UK Biobank. ERJ Open Research 2023, 9: 00291-2023. PMID: 37650091, PMCID: PMC10463033, DOI: 10.1183/23120541.00291-2023.Peer-Reviewed Original ResearchGenome-wide association studiesGenetic architectureGenetic correlation analysisUK BiobankGWAS resultsTranscription factorsInterleukin-4 SignalingBlood eosinophil countsAssociation studiesDoctor-diagnosed asthmaSignificant variantsEosinophil countEuropean ancestryTraitsPathwayGenetic linkType 2 immune responsesType 2 inflammationSignalingCritical associationImmune responseHeterogeneous diseaseTAGCSevere asthmaTherapeutic interventions
2015
Evidence of a genetic link between endometriosis and ovarian cancer
Lee A, Templeman C, Stram D, Beesley J, Tyrer J, Berchuck A, Pharoah P, Chenevix-Trench G, Pearce C, Consortium O, Ness R, Dansonka-Mieszkowska A, Gentry-Maharaj A, Hein A, Whittemore A, Jensen A, du Bois A, Brooks-Wilson A, Rudolph A, Jakubowska A, Wu A, Ziogas A, Ekici A, Leminen A, Study A, Group A, Rosen B, Spiewankiewicz B, Karlan B, Trabert B, Fridley B, Gilks C, Krakstad C, Phelan C, Cybulski C, Walsh C, Hogdall C, Cramer D, Huntsman D, Eccles D, Lambrechts D, Liang D, Levine D, Iversen E, Bandera E, Poole E, Goode E, Van Nieuwenhuysen E, Hogdall E, Bruinsma F, Heitz F, Modugno F, Giles G, Risch H, Baker H, Salvesen H, Nevanlinna H, Anton-Culver H, Song H, McNeish I, Campbell I, Vergote I, Runnebaum I, Tangen I, Schwaab I, Gronwald J, Paul J, Lubinski J, Doherty J, Chang-Claude J, Lester J, Schildkraut J, McLaughlin J, Lissowska J, Kupryjanczyk J, Tyrer J, Kelley J, Rothstein J, Cunningham J, Lu K, Carty K, Terry K, Aben K, Moysich K, Wicklund K, Odunsi K, Kiemeney L, Sucheston-Campbell L, Lundvall L, Massuger L, Pelttari L, Kelemen L, Cook L, Bjorge L, Nedergaard L, Brinton L, Wilkens L, Pike M, Goodman M, Bisogna M, Rossing M, Beckmann M, Dürst M, Southey M, Kellar M, Hildebrandt M, Siddiqui N, Antonenkova N, Bogdanova N, Le N, Wentzensen N, Thompson P, Harrington P, Webb P, Fasching P, Hillemanns P, Harter P, Sobiczewski P, Weber R, Butzow R, Edwards R, Vierkant R, Glasspool R, Orsulic S, Lambrechts S, Olson S, Wang-Gohrke S, Lele S, Tworoger S, Gayther S, Missmer S, Narod S, Ramus S, Kjaer S, Pejovic T, Dörk T, Eilber U, Menon U, McGuire V, Sieh W, Wu X, Bean Y, Shvetsov Y. Evidence of a genetic link between endometriosis and ovarian cancer. Fertility And Sterility 2015, 105: 35-43.e10. PMID: 26477498, PMCID: PMC5068352, DOI: 10.1016/j.fertnstert.2015.09.023.Peer-Reviewed Original Research
2009
Kcne2 deletion uncovers its crucial role in thyroid hormone biosynthesis
Roepke TK, King EC, Reyna-Neyra A, Paroder M, Purtell K, Koba W, Fine E, Lerner DJ, Carrasco N, Abbott GW. Kcne2 deletion uncovers its crucial role in thyroid hormone biosynthesis. Nature Medicine 2009, 15: 1186-1194. PMID: 19767733, PMCID: PMC2790327, DOI: 10.1038/nm.2029.Peer-Reviewed Original Research
2000
Identification of polymorphisms in the GABAB receptor gene and linkage study of attention‐deficit hyperactivity disorder
Barr C, Feng Y, Wigg K, Roberts W, Malone M, Schachar R, Tannock R, Gruen J, Goei V, Kennedy J. Identification of polymorphisms in the GABAB receptor gene and linkage study of attention‐deficit hyperactivity disorder. International Journal Of Genomics 2000, 1: 194-201. DOI: 10.1002/1438-826x(200012)1:5/6<194::aid-gnfd194>3.0.co;2-2.Peer-Reviewed Original ResearchDNA sequence variantsReceptor geneInteresting candidate genesIdentification of polymorphismsChromosome locationDNA sequencesCandidate genesReceptor 1 geneGenetic linkageGenetic relationshipsLinkage analysisSequence variantsGenesGABAB receptor geneChromosome 6pCommon variantsHuman leukocyte antigen (HLA) regionLinkage studiesComorbid reading disabilitiesAntigen regionPhenotypeGenetic linkNumber of neurotransmittersReceptorsRole
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