BibTex format
@article{Joshi:2015:10.1038/nature14618,
author = {Joshi, PK and Esko, T and Mattsson, H and Eklund, N and Gandin, I and Nutile, T and Jackson, AU and Schurmann, C and Smith, AV and Zhang, W and Okada, Y and Stancakova, A and Faul, JD and Zhao, W and Bartz, TM and Concas, MP and Franceschini, N and Enroth, S and Vitart, V and Trompet, S and Guo, X and Chasman, DI and O'Connel, JR and Corre, T and Nongmaithem, SS and Chen, Y and Mangino, M and Ruggiero, D and Traglia, M and Farmaki, A-E and Kacprowski, T and Bjonnes, A and van, der Spek A and Wu, Y and Giri, AK and Yanek, LR and Wang, L and Hofer, E and Rietveld, CA and McLeod, O and Cornelis, MC and Pattaro, C and Verweij, N and Baumbach, C and Abdellaoui, A and Warren, HR and Vuckovic, D and Mei, H and Bouchard, C and Perry, JRB and Cappellani, S and Mirza, SS and Benton, MC and Broeckel, U and Medland, SE and Lind, P and Malerba, G and Drong, A and Yengo, L and Bielak, LF and Zhi, D and van, der Most PJ and Shriner, D and Maegi, R and Hemani, G and Karaderi, T and Wang, Z and Liu, T },
doi = {10.1038/nature14618},
journal = {Nature},
pages = {459--462},
title = {Directional dominance on stature and cognition in diverse human populations},
url = {http://dx.doi.org/10.1038/nature14618},
volume = {523},
year = {2015}
}
RIS format (EndNote, RefMan)
TY - JOUR
AB - Homozygosity has long been associated with rare, often devastating, Mendelian disorders1, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness2. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power3, 4. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10−300, 2.1 × 10−6, 2.5 × 10−10 and 1.8 × 10−10, respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months’ less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples5, 6, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection7, this study provides evidence that increased stature and cognit
AU - Joshi,PK
AU - Esko,T
AU - Mattsson,H
AU - Eklund,N
AU - Gandin,I
AU - Nutile,T
AU - Jackson,AU
AU - Schurmann,C
AU - Smith,AV
AU - Zhang,W
AU - Okada,Y
AU - Stancakova,A
AU - Faul,JD
AU - Zhao,W
AU - Bartz,TM
AU - Concas,MP
AU - Franceschini,N
AU - Enroth,S
AU - Vitart,V
AU - Trompet,S
AU - Guo,X
AU - Chasman,DI
AU - O'Connel,JR
AU - Corre,T
AU - Nongmaithem,SS
AU - Chen,Y
AU - Mangino,M
AU - Ruggiero,D
AU - Traglia,M
AU - Farmaki,A-E
AU - Kacprowski,T
AU - Bjonnes,A
AU - van,der Spek A
AU - Wu,Y
AU - Giri,AK
AU - Yanek,LR
AU - Wang,L
AU - Hofer,E
AU - Rietveld,CA
AU - McLeod,O
AU - Cornelis,MC
AU - Pattaro,C
AU - Verweij,N
AU - Baumbach,C
AU - Abdellaoui,A
AU - Warren,HR
AU - Vuckovic,D
AU - Mei,H
AU - Bouchard,C
AU - Perry,JRB
AU - Cappellani,S
AU - Mirza,SS
AU - Benton,MC
AU - Broeckel,U
AU - Medland,SE
AU - Lind,P
AU - Malerba,G
AU - Drong,A
AU - Yengo,L
AU - Bielak,LF
AU - Zhi,D
AU - van,der Most PJ
AU - Shriner,D
AU - Maegi,R
AU - Hemani,G
AU - Karaderi,T
AU - Wang,Z
AU - Liu,T
AU - Demuth,I
AU - Zhao,JH
AU - Meng,W
AU - Lataniotis,L
AU - van,der Laan SW
AU - Bradfield,JP
AU - Wood,AR
AU - Bonnefond,A
AU - Ahluwalia,TS
AU - Hall,L
AU - Salvi,E
AU - Yazar,S
AU - Carstensen,L
AU - de,Haan HG
AU - Abney,M
AU - Afzal,U
AU - Allison,MA
AU - Amin,N
AU - Asselbergs,FW
AU - Bakker,SJL
AU - Barr,RG
AU - Baumeister,SE
AU - Benjamin,DJ
AU - Bergmann,S
AU - Boerwinkle,E
AU - Bottinger,EP
AU - Campbell,A
AU - Chakravarti,A
AU - Chan,Y
AU - Chanock,SJ
AU - Chen,C
AU - Chen,Y-DI
AU - Collins,FS
AU - Connell,J
AU - Correa,A
AU - Cupples,LA
AU - Smith,GD
AU - Davies,G
AU - Doerr,M
AU - Ehret,G
AU - Ellis,SB
AU - Feenstra,B
AU - Feitosa,MF
AU - Ford,I
AU - Fox,CS
AU - Frayling,TM
AU - Friedrich,N
AU - Geller,F
AU - Scotland,G
AU - Gillham-Nasenya,I
AU - Gottesman,O
AU - Graff,M
AU - Grodstein,F
AU - Gu,C
AU - Haley,C
AU - Hammond,CJ
AU - Harris,SE
AU - Harris,TB
AU - Hastie,ND
AU - Heard-Costa,NL
AU - Heikkila,K
AU - Hocking,LJ
AU - Homuth,G
AU - Hottenga,J-J
AU - Huang,J
AU - Huffman,JE
AU - Hysi,PG
AU - Ikram,MA
AU - Ingelsson,E
AU - Joensuu,A
AU - Johansson,A
AU - Jousilahti,P
AU - Jukema,JW
AU - Kahonen,M
AU - Kamatani,Y
AU - Kanoni,S
AU - Kerr,SM
AU - Khan,NM
AU - Koellinger,P
AU - Koistinen,HA
AU - Kooner,MK
AU - Kubo,M
AU - Kuusisto,J
AU - Lahti,J
AU - Launer,LJ
AU - Lea,RA
AU - Lehne,B
AU - Lehtimaki,T
AU - Liewald,DCM
AU - Lind,L
AU - Loh,M
AU - Lokki,M-L
AU - London,SJ
AU - Loomis,SJ
AU - Loukola,A
AU - Lu,Y
AU - Lumley,T
AU - Lundqvist,A
AU - Mannisto,S
AU - Marques-Vidal,P
AU - Masciullo,C
AU - Matchan,A
AU - Mathias,RA
AU - Matsuda,K
AU - Meigs,JB
AU - Meisinger,C
AU - Meitinger,T
AU - Menni,C
AU - Mentch,FD
AU - Mihailov,E
AU - Milani,L
AU - Montasser,ME
AU - Montgomery
DO - 10.1038/nature14618
EP - 462
PY - 2015///
SN - 0028-0836
SP - 459
TI - Directional dominance on stature and cognition in diverse human populations
T2 - Nature
UR - http://dx.doi.org/10.1038/nature14618
UR - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000358378900036&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR - http://hdl.handle.net/10044/1/30171
VL - 523
ER -
