2023
Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals
Zhou H, Kember R, Deak J, Xu H, Toikumo S, Yuan K, Lind P, Farajzadeh L, Wang L, Hatoum A, Johnson J, Lee H, Mallard T, Xu J, Johnston K, Johnson E, Nielsen T, Galimberti M, Dao C, Levey D, Overstreet C, Byrne E, Gillespie N, Gordon S, Hickie I, Whitfield J, Xu K, Zhao H, Huckins L, Davis L, Sanchez-Roige S, Madden P, Heath A, Medland S, Martin N, Ge T, Smoller J, Hougaard D, Børglum A, Demontis D, Krystal J, Gaziano J, Edenberg H, Agrawal A, Justice A, Stein M, Kranzler H, Gelernter J. Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals. Nature Medicine 2023, 29: 3184-3192. PMID: 38062264, PMCID: PMC10719093, DOI: 10.1038/s41591-023-02653-5.Peer-Reviewed Original ResearchGenetically Regulated Gene Expression in the Brain Associated With Chronic Pain: Relationships With Clinical Traits and Potential for Drug Repurposing
Johnston K, Cote A, Hicks E, Johnson J, Huckins L. Genetically Regulated Gene Expression in the Brain Associated With Chronic Pain: Relationships With Clinical Traits and Potential for Drug Repurposing. Biological Psychiatry 2023, 95: 745-761. PMID: 37678542, PMCID: PMC10924073, DOI: 10.1016/j.biopsych.2023.08.023.Peer-Reviewed Original ResearchConceptsGenetically regulated gene expressionMultisite chronic painGene-tissue associationsMean pain scoreUnique genesChronic painAssociation studiesS-PrediXcanGene expressionPain scoresTranscriptome-wide association studyPhenome-wide association studyCardiac dysrhythmiasMetabolic syndromeGenome-wide association studiesAssociated with cardiac dysrhythmiasDrug targetsGenotype-phenotype gapChronic pain developmentAssociation study resultsGene expression changesJoint/ligament sprainsDirection of effectTranscriptome imputationPain traits
2022
Concerns about the use of polygenic embryo screening for psychiatric and cognitive traits
Lencz T, Sabatello M, Docherty A, Peterson R, Soda T, Austin J, Bierut L, Crepaz-Keay D, Curtis D, Degenhardt F, Huckins L, Lazaro-Munoz G, Mattheisen M, Meiser B, Peay H, Rietschel M, Walss-Bass C, Davis L. Concerns about the use of polygenic embryo screening for psychiatric and cognitive traits. The Lancet Psychiatry 2022, 9: 838-844. PMID: 35931093, PMCID: PMC9930635, DOI: 10.1016/s2215-0366(22)00157-2.Peer-Reviewed Original ResearchConceptsRisk of complex diseasesPolygenic risk scoresEthical issuesEthical implicationsPersonal viewEmbryo screeningGenetic riskRisk scorePolygenic embryo screeningPsychiatric geneticsInternational Society of Psychiatric GeneticsComplex diseasesViewsPsychiatric disordersRelevant stakeholdersScreeningIn vitro fertilisationScreen embryosInternational SocietyPersonsPrivate companiesSocietyClinical applicationMapping anorexia nervosa genes to clinical phenotypes
Johnson J, Cote A, Dobbyn A, Sloofman L, Xu J, Cotter L, Charney A, Consortium E, Birgegård A, Jordan J, Kennedy M, Landén M, Maguire S, Martin N, Mortensen P, Thornton L, Bulik C, Huckins L. Mapping anorexia nervosa genes to clinical phenotypes. Psychological Medicine 2022, 53: 2619-2633. PMID: 35379376, PMCID: PMC10123844, DOI: 10.1017/s0033291721004554.Peer-Reviewed Original ResearchConceptsBody mass indexGenome-wide association studiesTranscriptome imputationElectronic health record phenotypingAssociation studiesPhenome-wide association studyS-PrediXcan analysisMeasurement of cholesterolTraditional genome-wide association studiesGenes associated with ANAssociation of genetic variantsSubstance useGenetically regulated gene expressionImpact of body mass indexConsequences of aberrant expressionBiobank cohortBiobank populationAssociated with measuresAssociation of ANGWAS findingsSecondary analysisS-PrediXcanDisease riskMass indexSignificant genesUsing phenotype risk scores to enhance gene discovery for generalized anxiety disorder and posttraumatic stress disorder
Wendt FR, Pathak GA, Deak JD, De Angelis F, Koller D, Cabrera-Mendoza B, Lebovitch DS, Levey DF, Stein MB, Kranzler HR, Koenen KC, Gelernter J, Huckins LM, Polimanti R. Using phenotype risk scores to enhance gene discovery for generalized anxiety disorder and posttraumatic stress disorder. Molecular Psychiatry 2022, 27: 2206-2215. PMID: 35181757, PMCID: PMC9133008, DOI: 10.1038/s41380-022-01469-y.Peer-Reviewed Original Research
2021
Multi-ethnic genome-wide association analyses of white blood cell and platelet traits in the Population Architecture using Genomics and Epidemiology (PAGE) study
Hu Y, Bien S, Nishimura K, Haessler J, Hodonsky C, Baldassari A, Highland H, Wang Z, Preuss M, Sitlani C, Wojcik G, Tao R, Graff M, Huckins L, Sun Q, Chen M, Mousas A, Auer P, Lettre G, Tang W, Qi L, Thyagarajan B, Buyske S, Fornage M, Hindorff L, Li Y, Lin D, Reiner A, North K, Loos R, Raffield L, Peters U, Avery C, Kooperberg C. Multi-ethnic genome-wide association analyses of white blood cell and platelet traits in the Population Architecture using Genomics and Epidemiology (PAGE) study. BMC Genomics 2021, 22: 432. PMID: 34107879, PMCID: PMC8191001, DOI: 10.1186/s12864-021-07745-5.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesPlatelet traitsAfrican AmericansPopulation ArchitectureAssociation studiesAssociation analysisAncestry-specific genome-wide association studiesEuropean ancestryGenome-wide association analysisAttenuation of effect estimatesGenome-wide significant variantsVariant association analysisGenome-wide significanceRacially/ethnically diverse populationsPopulations of European ancestryGenetic association studiesAncestry-specificComplex traitsSignificant variantsHispanics/LatinosMultiple genesAncestry groupsEffect estimatesEA populationsEA participantsExamining Sex-Differentiated Genetic Effects Across Neuropsychiatric and Behavioral Traits
Martin J, Khramtsova E, Goleva S, Blokland G, Traglia M, Walters R, Hübel C, Coleman J, Breen G, Børglum A, Demontis D, Grove J, Werge T, Bralten J, Bulik C, Lee P, Mathews C, Peterson R, Winham S, Wray N, Edenberg H, Guo W, Yao Y, Neale B, Faraone S, Petryshen T, Weiss L, Duncan L, Goldstein J, Smoller J, Stranger B, Davis L, Consortium S, Alda M, Bortolato M, Burton C, Byrne E, Carey C, Erdman L, Huckins L, Mattheisen M, Robinson E, Stahl E. Examining Sex-Differentiated Genetic Effects Across Neuropsychiatric and Behavioral Traits. Biological Psychiatry 2021, 89: 1127-1137. PMID: 33648717, PMCID: PMC8163257, DOI: 10.1016/j.biopsych.2020.12.024.Peer-Reviewed Original ResearchConceptsSex-differential effectsSex differencesGenetic architectureBehavioral traitsSingle nucleotide polymorphism (SNP)-based heritabilityGenetic correlationsGenome-wide association summary statisticsSNP-based heritabilityMultiple gene setsOrigins of sex differencesAssociation summary statisticsIdentified 4 genesGene-based approachRisk-taking behaviorIdentified genesGene setsWell-powered studiesBehavioral phenotypesBiological functionsGenetic contributionBetween-sexGenetic effectsTrait pairsGenetic correlation estimatesNeuron-related
2020
Implicit bias of encoded variables: frameworks for addressing structured bias in EHR–GWAS data
Dueñas H, Seah C, Johnson J, Huckins L. Implicit bias of encoded variables: frameworks for addressing structured bias in EHR–GWAS data. Human Molecular Genetics 2020, 29: r33-r41. PMID: 32879975, PMCID: PMC7530523, DOI: 10.1093/hmg/ddaa192.Peer-Reviewed Original ResearchConceptsElectronic health recordsUse of electronic health recordsElectronic health record dataElectronic health record analysisGenome-wide association studiesHealth recordsPhenotype definitionAssociation studiesMedical recordsClinical decisionsPhenotypic characterizationPhenotypic analysisClinically useful insightsPotential biasPresentation of diseaseDegree of biasHomogeneous cohortClinicPhenotypeScalable mannerRecordsCohortBias
2019
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
Watson H, Yilmaz Z, Thornton L, Hübel C, Coleman J, Gaspar H, Bryois J, Hinney A, Leppä V, Mattheisen M, Medland S, Ripke S, Yao S, Giusti-Rodríguez P, Hanscombe K, Purves K, Adan R, Alfredsson L, Ando T, Andreassen O, Baker J, Berrettini W, Boehm I, Boni C, Perica V, Buehren K, Burghardt R, Cassina M, Cichon S, Clementi M, Cone R, Courtet P, Crow S, Crowley J, Danner U, Davis O, de Zwaan M, Dedoussis G, Degortes D, DeSocio J, Dick D, Dikeos D, Dina C, Dmitrzak-Weglarz M, Docampo E, Duncan L, Egberts K, Ehrlich S, Escaramís G, Esko T, Estivill X, Farmer A, Favaro A, Fernández-Aranda F, Fichter M, Fischer K, Föcker M, Foretova L, Forstner A, Forzan M, Franklin C, Gallinger S, Giegling I, Giuranna J, Gonidakis F, Gorwood P, Mayora M, Guillaume S, Guo Y, Hakonarson H, Hatzikotoulas K, Hauser J, Hebebrand J, Helder S, Herms S, Herpertz-Dahlmann B, Herzog W, Huckins L, Hudson J, Imgart H, Inoko H, Janout V, Jiménez-Murcia S, Julià A, Kalsi G, Kaminská D, Kaprio J, Karhunen L, Karwautz A, Kas M, Kennedy J, Keski-Rahkonen A, Kiezebrink K, Kim Y, Klareskog L, Klump K, Knudsen G, La Via M, Le Hellard S, Levitan R, Li D, Lilenfeld L, Lin B, Lissowska J, Luykx J, Magistretti P, Maj M, Mannik K, Marsal S, Marshall C, Mattingsdal M, McDevitt S, McGuffin P, Metspalu A, Meulenbelt I, Micali N, Mitchell K, Monteleone A, Monteleone P, Munn-Chernoff M, Nacmias B, Navratilova M, Ntalla I, O’Toole J, Ophoff R, Padyukov L, Palotie A, Pantel J, Papezova H, Pinto D, Rabionet R, Raevuori A, Ramoz N, Reichborn-Kjennerud T, Ricca V, Ripatti S, Ritschel F, Roberts M, Rotondo A, Rujescu D, Rybakowski F, Santonastaso P, Scherag A, Scherer S, Schmidt U, Schork N, Schosser A, Seitz J, Slachtova L, Slagboom P, Slof-Op ‘t Landt M, Slopien A, Sorbi S, Świątkowska B, Szatkiewicz J, Tachmazidou I, Tenconi E, Tortorella A, Tozzi F, Treasure J, Tsitsika A, Tyszkiewicz-Nwafor M, Tziouvas K, van Elburg A, van Furth E, Wagner G, Walton E, Widen E, Zeggini E, Zerwas S, Zipfel S, Bergen A, Boden J, Brandt H, Crawford S, Halmi K, Horwood L, Johnson C, Kaplan A, Kaye W, Mitchell J, Olsen C, Pearson J, Pedersen N, Strober M, Werge T, Whiteman D, Woodside D, Stuber G, Gordon S, Grove J, Henders A, Juréus A, Kirk K, Larsen J, Parker R, Petersen L, Jordan J, Kennedy M, Montgomery G, Wade T, Birgegård A, Lichtenstein P, Norring C, Landén M, Martin N, Mortensen P, Sullivan P, Breen G, Bulik C. Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa. Nature Genetics 2019, 51: 1207-1214. PMID: 31308545, PMCID: PMC6779477, DOI: 10.1038/s41588-019-0439-2.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesAssociation studiesTwin-based heritability estimatesEating Disorders Working GroupPsychiatric Genomics ConsortiumAnorexia nervosaBody-mass indexSignificant lociGenetic architectureRisk lociGenetics InitiativeGenomics ConsortiumLow body-mass indexMetabo-psychiatric disorderGenetic correlationsMetabolic componentsLociCases of anorexia nervosaPhysical activityAnthropometric traitsPsychiatric disordersHeritability estimatesAnorexia Nervosa Genetics InitiativeNervosaImprove outcomes
2018
Analysis of shared heritability in common disorders of the brain
Consortium T, Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Schott J, Rossor M, Lupton M, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis J, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee S, De Jager P, Geschwind D, Riemenschneider M, Riedel-Heller S, Rotter J, Ransmayr G, Hyman B, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh K, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt G, Freilinger T, Ran C, Gordon S, Borck G, Adams H, Lehtimäki T, Wedenoja J, Buring J, Schürks M, Hrafnsdottir M, Hottenga J, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin N, Montgomery G, Kurki M, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari M, Belin A, van den Maagdenberg A, Zwart J, Boomsma D, Eriksson N, Olesen J, Chasman D, Nyholt D, Anney R, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino C, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro T, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz W, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller R, Molloy A, Ng P, Oliver K, Privitera M, Radtke R, Ruppert A, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya S, Smith P, Sperling M, Striano P, Surges R, Thomas G, Visscher F, Whelan C, Zara F, Heinzen E, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris H, Sharma M, Ryten M, Mok K, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen W, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Perica V, Thornton L, Huckins L, Rayner N, Lewis C, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson J, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker J, O’Toole J, Trace S, Davis O, Helder S, Ehrlich S, Herpertz-Dahlmann B, Danner U, van Elburg A, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick D, Ripatti S, Andreassen O, Espeseth T, Lundervold A, Steen V, Pinto D, Scherer S, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi K, Mitchell J, Strober M, Bergen A, Kaye W, Szatkiewicz J, Cormand B, Ramos-Quiroga J, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz M, Haavik J, Zayats T, Johansson S, Williams N, Elia J, Dempfle A, Rothenberger A, Kuntsi J, Oades R, Banaschewski T, Franke B, Buitelaar J, Vasquez A, Doyle A, Reif A, Lesch K, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt S, Dalsgaard S, Børglum A, Waldman I, Wilmot B, Molly N, Bau C, Crosbie J, Schachar R, Loo S, McGough J, Grevet E, Medland S, Robinson E, Weiss L, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck S, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca D, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, Rogé B, Magalhaes T, Arking D, Schulze T, Thompson R, Strohmaier J, Matthews K, Melle I, Morris D, Blackwood D, McIntosh A, Bergen S, Schalling M, Jamain S, Maaser A, Fischer S, Reinbold C, Fullerton J, Grigoroiu-Serbanescu M, Guzman-Parra J, Mayoral F, Schofield P, Cichon S, Mühleisen T, Degenhardt F, Schumacher J, Bauer M, Mitchell P, Gershon E, Rice J, Potash J, Zandi P, Craddock N, Ferrier I, Alda M, Rouleau G, Turecki G, Ophoff R, Pato C, Anjorin A, Stahl E, Leber M, Czerski P, Edenberg H, Cruceanu C, Jones I, Posthuma D, Andlauer T, Forstner A, Streit F, Baune B, Air T, Sinnamon G, Wray N, MacIntyre D, Porteous D, Homuth G, Rivera M, Grove J, Middeldorp C, Hickie I, Pergadia M, Mehta D, Smit J, Jansen R, de Geus E, Dunn E, Li Q, Nauck M, Schoevers R, Beekman A, Knowles J, Viktorin A, Arnold P, Barr C, Bedoya-Berrio G, Bienvenu O, Brentani H, Burton C, Camarena B, Cappi C, Cath D, Cavallini M, Cusi D, Darrow S, Denys D, Derks E, Dietrich A, Fernandez T, Figee M, Freimer N, Gerber G, Grados M, Greenberg E, Hanna G, Hartmann A, Hirschtritt M, Hoekstra P, Huang A, Huyser C, Illmann C, Jenike M, Kuperman S, Leventhal B, Lochner C, Lyon G, Macciardi F, Madruga-Garrido M, Malaty I, Maras A, McGrath L, Miguel E, Mir P, Nestadt G, Nicolini H, Okun M, Pakstis A, Paschou P, Piacentini J, Pittenger C, Plessen K, Ramensky V, Ramos E, Reus V, Richter M, Riddle M, Robertson M, Roessner V, Rosário M, Samuels J, Sandor P, Stein D, Tsetsos F, Van Nieuwerburgh F, Weatherall S, Wendland J, Wolanczyk T, Worbe Y, Zai G, Goes F, McLaughlin N, Nestadt P, Grabe H, Depienne C, Konkashbaev A, Lanzagorta N, Valencia-Duarte A, Bramon E, Buccola N, Cahn W, Cairns M, Chong S, Cohen D, Crespo-Facorro B, Crowley J, Davidson M, DeLisi L, Dinan T, Donohoe G, Drapeau E, Duan J, Haan L, Hougaard D, Karachanak-Yankova S, Khrunin A, Klovins J, Kučinskas V, Keong J, Limborska S, Loughland C, Lönnqvist J, Maher B, Mattheisen M, McDonald C, Murphy K, Murray R, Nenadic I, van Os J, Pantelis C, Pato M, Petryshen T, Quested D, Roussos P, Sanders A, Schall U, Schwab S, Sim K, So H, Stögmann E, Subramaniam M, Toncheva D, Waddington J, Walters J, Weiser M, Cheng W, Cloninger R, Curtis D, Gejman P, Henskens F, Mattingsdal M, Oh S, Scott R, Webb B, Breen G, Churchhouse C, Bulik C, Daly M, Dichgans M, Faraone S, Guerreiro R, Holmans P, Kendler K, Koeleman B, Mathews C, Price A, Scharf J, Sklar P, Williams J, Wood N, Cotsapas C, Palotie A, Smoller J, Sullivan P, Rosand J, Corvin A, Neale B. Analysis of shared heritability in common disorders of the brain. Science 2018, 360 PMID: 29930110, PMCID: PMC6097237, DOI: 10.1126/science.aap8757.Peer-Reviewed Original ResearchConceptsPsychiatric disordersBrain disordersCommon variant riskRisk factorsCommon disorderNeurological disordersDiagnostic misclassificationBrain phenotypesCommon genetic variationControl participantsDisordersVariant riskPhenotypic heterogeneityBrainEtiologic overlapGenetic sharingGenome-wide association studiesCognitive measuresAssociation studiesPhenotypeExploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
Barbeira A, Dickinson S, Bonazzola R, Zheng J, Wheeler H, Torres J, Torstenson E, Shah K, Garcia T, Edwards T, Stahl E, Huckins L, GTEx Consortium, Nicolae D, Cox N, Im H. Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics. Nature Communications 2018, 9: 1825. PMID: 29739930, PMCID: PMC5940825, DOI: 10.1038/s41467-018-03621-1.Peer-Reviewed Original ResearchConceptsGene expression variationExpression variationMonogenic disease genesGWAS summary statisticsSpectrum of milder phenotypesGTEx tissuesS-PrediXcanDisease genesTrait etiologyPhenotypic consequencesGenetic variantsHuman phenotypesRegulatory mechanismsMilder phenotypeSummary statisticsSignificant associationPhenotypeGenesTraitsMeta-analysis studySummary dataReference setsPrediXcanIndependent cohortGWAS
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