Genome-wide analysis identifies 12 loci influencing human reproductive behavior.
Nicola BarbanRick JansenRonald de VlamingAhmad VaezJornt J MandemakersFelix C TropfXia ShenJames F WilsonDaniel I ChasmanIlja M NolteVinicius TraganteSander W van der LaanJohn R B PerryAugustine Kongnull nullTarunveer S AhluwaliaEva AlbrechtLaura Yerges-ArmstrongGil AtzmonKirsi AuroKristin AyersAndrew BakshiDanny Ben-AvrahamKlaus BergerAviv BergmanLars BertramLawrence F BielakGyda BjornsdottirMarc Jan BonderLinda BroerMinh BuiCaterina BarbieriAlana CavadinoJorge E ChavarroConstance TurmanMaria Pina ConcasHeather J CordellGail DaviesPeter EibichNicholas ErikssonTõnu EskoJoel ErikssonFahimeh FalahiJanine F FelixMark Alan FontanaLude FrankeIlaria GandinAudrey J GaskinsChristian GiegerErica P GundersonXiuqing GuoCaroline HaywardChunyan HeEdith HoferHongyan HuangPeter K JoshiStavroula KanoniRobert KarlssonStefan KiechlAnnette KifleyAlexander KluttigPeter KraftVasiliki LagouCecile LecoeurJari LahtiRuifang Li-GaoPenelope A LindTian LiuEnes MakalicCrysovalanto MamasoulaLindsay MattesonHamdi MbarekPatrick F McArdleGeorge McMahonS Fleur W MeddensEvelin MihailovMike MillerStacey A MissmerClaire MonnereauPeter J van der MostRonny MyhreMike A NallsTeresa NutileIoanna Panagiota KalafatiEleonora PorcuInga ProkopenkoKumar B RajanJanet Rich-EdwardsCornelius A RietveldAntonietta RobinoLynda M RoseRico RueediKathleen A RyanYasaman SabaDaniel SchmidtJennifer A SmithLisette StolkElizabeth StreetenAnke TönjesGudmar ThorleifssonSheila UliviJuho WedenojaJuergen WellmannPeter WilleitJie YaoLoic YengoJing Hua ZhaoWei ZhaoDaria V ZhernakovaNajaf AminHoward AndrewsBeverley BalkauNir BarzilaiSven BergmannGinevra BiinoHans BisgaardKlaus BønnelykkeDorret I BoomsmaJulie E BuringHarry CampbellStefania CappellaniMarina CiulloSimon R CoxFrancesco CuccaDaniela TonioloGeorge Davey-SmithIan J DearyGeorge DedoussisPanos DeloukasCornelia M van DuijnEco J C de GeusJohan G ErikssonDenis A EvansJessica D FaulCinzia Felicita SalaPhilippe FroguelPaolo GaspariniGiorgia GirottoHans-Jörgen GrabeKarin Halina GreiserPatrick J F GroenenHugoline G de HaanJohannes HaertingTamara B HarrisAndrew C HeathKauko HeikkiläAlbert HofmanGeorg HomuthElizabeth G HollidayJohn HopperElina HyppönenBo JacobssonVincent W V JaddoeMagnus JohannessonAstanand JugessurMika KähönenEero KajantieSharon L R KardiaBernard KeavneyIvana KolcicPäivikki KoponenPeter KovacsFlorian KronenbergZoltan KutalikMartina La BiancaGenevieve LachanceWilliam G IaconoSandra LaiTerho LehtimäkiDavid C Liewaldnull nullCecilia M LindgrenYongmei LiuRobert LubenMichael LuchtRiitta LuotoPer MagnusPatrik K E MagnussonNicholas G MartinMatt McGueRuth McQuillanSarah E MedlandChrista MeisingerDan MellströmAndres MetspaluMichela TragliaLili MilaniPaul MitchellGrant W MontgomeryDennis Mook-KanamoriRenée de MutsertEllen A NohrClaes OhlssonJørn OlsenKen K OngLavinia PaternosterAlison PattieBrenda W J H PenninxMarkus PerolaPatricia A PeyserMario PirastuOzren PolasekChris PowerJaakko KaprioLeslie J RaffelKatri RäikkönenOlli RaitakariPaul M RidkerSusan M RingKathryn RollIgor RudanDaniela RuggieroDan RujescuVeikko SalomaaDavid SchlessingerHelena SchmidtReinhold SchmidtNicole SchupfJohannes SmitRossella SoriceTim D SpectorJohn M StarrDoris StöcklKonstantin StrauchMichael StumvollMorris A SwertzUnnur ThorsteinsdottirA Roy ThurikNicholas J TimpsonJoyce Y TungAndré G UitterlindenSimona VaccargiuJorma ViikariVeronique VitartHenry VölzkePeter VollenweiderDragana VuckovicJohannes WaageGert G WagnerJie Jin WangNicholas J WarehamDavid R WeirGonneke WillemsenJohann WilleitAlan F WrightKrina T ZondervanKari StefanssonRobert F KruegerJames J LeeDaniel J BenjaminDavid CesariniPhilipp D KoellingerMarcel den HoedHarold SniederMelinda C MillsPublished in: Nature genetics (2016)
The genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the underlying mechanisms of AFB and NEB are poorly understood. We report a large genome-wide association study of both sexes including 251,151 individuals for AFB and 343,072 individuals for NEB. We identified 12 independent loci that are significantly associated with AFB and/or NEB in a SNP-based genome-wide association study and 4 additional loci associated in a gene-based effort. These loci harbor genes that are likely to have a role, either directly or by affecting non-local gene expression, in human reproduction and infertility, thereby increasing understanding of these complex traits.
Keyphrases
- genome wide
- genome wide association study
- endothelial cells
- dna methylation
- gene expression
- induced pluripotent stem cells
- copy number
- pluripotent stem cells
- genome wide analysis
- physical activity
- type diabetes
- genome wide association
- metabolic syndrome
- young adults
- skeletal muscle
- polycystic ovary syndrome
- insulin resistance
- preterm infants
- transcription factor