2017
Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa
Huckins L, Hatzikotoulas K, Southam L, Thornton L, Steinberg J, Aguilera-McKay F, Treasure J, Schmidt U, Gunasinghe C, Romero A, Curtis C, Rhodes D, Moens J, Kalsi G, Dempster D, Leung R, Keohane A, Burghardt R, Ehrlich S, Hebebrand J, Hinney A, Ludolph A, Walton E, Deloukas P, Hofman A, Palotie A, Palta P, van Rooij F, Stirrups K, Adan R, Boni C, Cone R, Dedoussis G, van Furth E, Gonidakis F, Gorwood P, Hudson J, Kaprio J, Kas M, Keski-Rahonen A, Kiezebrink K, Knudsen G, Slof-Op 't Landt M, Maj M, Monteleone A, Monteleone P, Raevuori A, Reichborn-Kjennerud T, Tozzi F, Tsitsika A, van Elburg A, Collier D, Sullivan P, Breen G, Bulik C, Zeggini E. Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa. Molecular Psychiatry 2017, 23: 1169-1180. PMID: 29155802, PMCID: PMC5828108, DOI: 10.1038/mp.2017.88.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenome-wide significanceGenomic search spaceGenome-wide variationLow-frequency variantsDetect low-frequency variantsPopulations of European originDe novo replicationIntergenic variantVariant associationsExome-chipAssociation studiesIntronic variantsRare variantsIn silicoEuropean originVariantsEffect sizeLociOPCMLWell-poweredSilicoReplicationNeuropsychiatric disorders
2014
Using ancestry-informative markers to identify fine structure across 15 populations of European origin
Huckins L, Boraska V, Franklin C, Floyd J, Southam L, Sullivan P, Bulik C, Collier D, Tyler-Smith C, Zeggini E, Tachmazidou I. Using ancestry-informative markers to identify fine structure across 15 populations of European origin. European Journal Of Human Genetics 2014, 22: 1190-1200. PMID: 24549058, PMCID: PMC4169539, DOI: 10.1038/ejhg.2014.1.Peer-Reviewed Original ResearchConceptsMinor allele frequencyPopulations of European originGenome-wide association scanAncestry-informative markersEuropean-descent populationsAxes of variationEuropean originGenetic structureAssociation scansPopulation structurePopulation stratificationK chipAllele frequenciesAssociation resultsSNPsInformative axesIlluminaMarkersPopulationVariantsPrincipal component analysisConsortiaComparative methodOriginWellcomeA genome-wide association study of anorexia nervosa
Boraska V, Franklin C, Floyd J, Thornton L, Huckins L, Southam L, Rayner N, Tachmazidou I, Klump K, Treasure J, Lewis C, Schmidt U, Tozzi F, Kiezebrink K, Hebebrand J, Gorwood P, Adan R, Kas M, Favaro A, Santonastaso P, Fernández-Aranda F, Gratacos M, Rybakowski F, Dmitrzak-Weglarz M, Kaprio J, Keski-Rahkonen A, Raevuori A, Van Furth E, Slof-Op 't Landt M, Hudson J, Reichborn-Kjennerud T, Knudsen G, Monteleone P, Kaplan A, Karwautz A, Hakonarson H, Berrettini W, Guo Y, Li D, Schork N, Komaki G, Ando T, Inoko H, Esko T, Fischer K, Männik K, Metspalu A, Baker J, Cone R, Dackor J, DeSocio J, Hilliard C, O'Toole J, Pantel J, Szatkiewicz J, Taico C, Zerwas S, Trace S, Davis O, Helder S, Bühren K, Burghardt R, de Zwaan M, Egberts K, Ehrlich S, Herpertz-Dahlmann B, Herzog W, Imgart H, Scherag A, Scherag S, Zipfel S, Boni C, Ramoz N, Versini A, Brandys M, Danner U, de Kovel C, Hendriks J, Koeleman B, Ophoff R, Strengman E, van Elburg A, Bruson A, Clementi M, Degortes D, Forzan M, Tenconi E, Docampo E, Escaramís G, Jiménez-Murcia S, Lissowska J, Rajewski A, Szeszenia-Dabrowska N, Slopien A, Hauser J, Karhunen L, Meulenbelt I, Slagboom P, Tortorella A, Maj M, Dedoussis G, Dikeos D, Gonidakis F, Tziouvas K, Tsitsika A, Papezova H, Slachtova L, Martaskova D, Kennedy J, Levitan R, Yilmaz Z, Huemer J, Koubek D, Merl E, Wagner G, Lichtenstein P, Breen G, Cohen-Woods S, Farmer A, McGuffin P, Cichon S, Giegling I, Herms S, Rujescu D, Schreiber S, Wichmann H, Dina C, Sladek R, Gambaro G, Soranzo N, Julia A, Marsal S, Rabionet R, Gaborieau V, Dick D, Palotie A, Ripatti S, Widén E, Andreassen O, Espeseth T, Lundervold A, Reinvang I, Steen V, Le Hellard S, Mattingsdal M, Ntalla I, Bencko V, Foretova L, Janout V, Navratilova M, Gallinger S, Pinto D, Scherer S, Aschauer H, Carlberg L, Schosser A, Alfredsson L, Ding B, Klareskog L, Padyukov L, Courtet P, Guillaume S, Jaussent I, Finan C, Kalsi G, Roberts M, Logan D, Peltonen L, Ritchie G, Barrett J, Estivill X, Hinney A, Sullivan P, Collier D, Zeggini E, Bulik C. A genome-wide association study of anorexia nervosa. Molecular Psychiatry 2014, 19: 1085-1094. PMID: 24514567, PMCID: PMC4325090, DOI: 10.1038/mp.2013.187.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesAssociation studiesGenome-wide significanceReplicate data setsCase-control sampleReplicated genotypesGlobal meta-analysisIntronic variantsGenetics ConsortiumGene studiesEuropean ancestryDe novoIn silicoAN casesAnorexia nervosaReplicationMeta-analyzedMeta-analysisSPATA13Discovery dataFAM124BReplicate resultsLower body weightCul3Discovery