39159
2015
2015
eng
1155
1168
14
4
24
article
Oxford Univ. Press
Oxford
Early Genetics Lifecourse, Genetic Invest ANthropometric, Early Growth Genetics EGG
1
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A novel common variant in DCST2 is associated with length in early life and height in adulthood
Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we meta-analyzed 22 genome-wide association studies (Stage 1; N = 28 459). We identified seven independent top single nucleotide polymorphisms (SNPs) (P < 1 x 10(-6)) for birth length, of which three were novel and four were in or near loci known to be associated with adult height (LCORL, PTCH1, GPR126 and HMGA2). The three novel SNPs were followed-up in nine replication studies (Stage 2; N = 11 995), with rs905938 in DC-STAMP domain containing 2 (DCST2) genome-wide significantly associated with birth length in a joint analysis (Stages 1 + 2; beta = 0.046, SE = 0.008, P = 2.46 x 10(-8), explained variance = 0.05%). Rs905938 was also associated with infant length (N = 28 228; P = 5.54 x 10(-4)) and adult height (N = 127 513; P = 1.45 x 10(-5)). DCST2 is a DC-STAMP-like protein family member and DC-STAMP is an osteoclast cell-fusion regulator. Polygenic scores based on 180 SNPs previously associated with human adult stature explained 0.13% of variance in birth length. The same SNPs explained 2.95% of the variance of infant length. Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2). This study highlights that common variation in DCST2 influences variation in early growth and adult height.
Human molecular genetics
10.1093/hmg/ddu510
25281659
0964-6906
1460-2083
wos:2015
WOS:000350138300021
Jaddoe, VWV (reprint author), Sophias Childrens Hosp, Erasmus Med Ctr, Dept Epidemiol, Generat Study Grp R, Postbus 2060, NL-3000 CB Rotterdam, Netherlands., v.jaddoe@erasmusmc.nl
Sir Henry Wellcome Postdoctoral Fellowship (Wellcome Trust)
[085541/Z/08/Z]; Danish Council for Independent Research Medical
Sciences (FSS) The Alfred Benzon Foundation; Oak Foundation fellowship;
Wellcome Trust [090532]; European Research Council [SZ-245
50371-GLUCOSEGENES-FP7-IDEAS-ERC]; Netherlands Organization for Health
Research and Development [VIDI 016.136.367, VIDI 016.136.361]
Ralf J. P. van der Valk
Eskil Kreiner-Moller
Marjolein N. Kooijman
Monica Guxens
Evangelia Stergiakouli
Annika Saaf
Jonathan P. Bradfield
Frank Geller
M. Geoffrey Hayes
Diana L. Cousminer
Antje Koerner
Elisabeth Thiering
John A. Curtin
Ronny Myhre
Ville Huikari
Raimo Joro
Marjan Kerkhof
Nicole M. Warrington
Niina Pitkanen
Ioanna Ntalla
Momoko Horikoshi
Riitta Veijola
Rachel M. Freathy
Yik-Ying Teo
Sheila J. Barton
David M. Evans
John P. Kemp
Beate St Pourcain
Susan M. Ring
George Davey Smith
Anna Bergstrom
Inger Kull
Hakon Hakonarson
Frank D. Mentch
Hans Bisgaard
Bo Lund Krogsgaard Chawes
Jakob Stokholm
Johannes Waage
Patrick Eriksen
Astrid Sevelsted
Mads Melbye
Cornelia M. van Duijn
Carolina Medina-Gomez
Albert Hofman
Johan C. de Jongste
H. Rob Taal
Andre G. Uitterlinden
Loren L. Armstrong
Johan Eriksson
Aarno Palotie
Mariona Bustamante
Xavier Estivill
Juan R. Gonzalez
Sabrina Llop
Wieland Kiess
Anubha Mahajan
Claudia Flexeder
Carla M. T. Tiesler
Clare S. Murray
Angela Simpson
Per Magnus
Verena Sengpiel
Anna-Liisa Hartikainen
Sirkka Keinanen-Kiukaanniemi
Alexandra Lewin
Alexessander Da Silva Couto Alves
Alexandra I. F. Blakemore
Jessica L. Buxton
Marika Kaakinen
Alina Rodriguez
Sylvain Sebert
Marja Vaarasmaki
Timo Lakka
Virpi Lindi
Ulrike Gehring
Dirkje S. Postma
Wei Ang
John P. Newnham
Leo-Pekka Lyytikainen
Katja Pahkala
Olli T. Raitakari
Kalliope Panoutsopoulou
Eleftheria Zeggini
Dorret I. Boomsma
Maria Groen-Blokhuis
Jorma Ilonen
Lude Franke
Joel N. Hirschhorn
Tune H. Pers
Liming Liang
Jinyan Huang
Berthold Hocher
Mikael Knip
Seang-Mei Saw
John W. Holloway
Erik Melen
Struan F. A. Grant
Bjarke Feenstra
William L. Lowe
Elisabeth Widen
Elena Sergeyev
Harald Grallert
Adnan Custovic
Bo Jacobsson
Marjo-Riitta Jarvelin
Mustafa Atalay
Gerard H. Koppelman
Craig E. Pennell
Harri Niinikoski
George V. Dedoussis
Mark I. Mccarthy
Timothy M. Frayling
Jordi Sunyer
Nicholas J. Timpson
Fernando Rivadeneira
Klaus Bonnelykke
Vincent W. V. Jaddoe
Institut für Ernährungswissenschaft
Referiert
35934
2012
2012
eng
532
+
9
5
44
article
Nature Publ. Group
New York
Cohorts Heart Aging Res Genetic Ep, Early Genetics Lifecourse Epidemio, Early Growth Genetics EGG Consorti
1
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Common variants at 12q15 and 12q24 are associated with infant head circumference
To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
Nature genetics
10.1038/ng.2238
1061-4036
wos:2011-2013
WOS:000303416300013
Smith, GD (reprint author), Univ Bristol, MRC, Ctr Causal Anal Translat Epidemiol, Sch Social & Community Med, Bristol, Avon, England., Julia.Mackay@bristol.ac.uk; heinrich@helmholtz-muenchen.de; m.jarvelin@imperial.ac.uk; v.jaddoe@erasmusmc.nl; heinrich@helmholtz-muenchen.de; v.jaddoe@erasmusmc.nl; m.jarvelin@imperial.ac.uk; heinrich@helmholtz-muenchen.de; v.jaddoe@erasmusmc.nl; m.jarvelin@imperial.ac.uk
Academy of Finland [104781, 120315, 129269, 1114194, 134839, 129287];
Biocentrum Helsinki; Biocenter, University of Oulu, Finland; British
Heart Foundation; Canadian Institutes of Health Research [MOP 82893];
The Children's Hospital of Philadelphia; Cotswold Foundation; Darlington
Trust; Dutch Asthma Foundation; Dutch Ministry of the Environment;
Erasmus Medical Center Rotterdam; Erasmus University Rotterdam; European
Community [HEALTH-F4-2007-201413]; Exeter National Health Service (NHS)
Research and Development; Fundacio La Marato de TV3 (Televisio de
Catalunya); Helmholtz Zentrum Muenchen; German Research Center for
Environment and Health; Institute of Epidemiology I; Neuherberg;
Instituto de Salud Carlos III [FIS PI081151, PS09/00432]; Institut fur
Umweltmedizinische Forschung (IUF) Dusseldorf; Marien-Hospital Wesel; UK
MRC [G0500539, G0600331, G0600705]; Municipal Health Service Rotterdam;
National Health and Medical Research Council of Australia [403981,
003209]; National Public Health Institute, Helsinki, Finland;
Netherlands Organisation for Scientific Research (NWO); Netherlands
Organisation for Health Research and Development (ZonMw) [SPI
56-464-14192, 904-61-090, 904-61-193, 912-03-031, 480-04-004,
400-05-717]; US NHLBI [5R01HL087679-02, 1RL1MH083268-01]; US NIH
[1R01HD056465-01A1]; Peninsula NIHR Clinical Research Facility; RAINE
Medical Research Foundation; Rotterdam Homecare Foundation; South West
NHS Research and Development; Stichting Astmabestrijding; Stichting
Trombosedienst & Artsenlaboratorium Rijnmond (STAR) Rotterdam; Technical
University Munich; Telethon Institute for Child Health Research;
UFZ-Centre for Environmental Research Leipzig-Halle; University Hospital
Oulu, Finland; University of Bristol; University of Leipzig; Wellcome
Trust [GR069224, 085541/Z/08/Z, WT083431MA, WT088431MA]; Western
Australian DNA Bank; Western Australian Genetic Epidemiology Resource;
ZonMW [21000074]; Dutch Kidney Foundation [C08.2251]; MRC UK [G0500539,
PS0476]; MRC [MRC G0800582]; Netherlands Organisation for Health
Research (ZonMw) [90700303, 916.10159]
H. Rob Taal
Beate St Pourcain
Elisabeth Thiering
Shikta Das
Dennis O. Mook-Kanamori
Nicole M. Warrington
Marika Kaakinen
Eskil Kreiner-Moller
Jonathan P. Bradfield
Rachel M. Freathy
Frank Geller
Monica Guxens
Diana L. Cousminer
Marjan Kerkhof
Nicholas J. Timpson
M. Arfan Ikram
Lawrence J. Beilin
Klaus Bonnelykke
Jessica L. Buxton
Pimphen Charoen
Bo Lund Krogsgaard Chawes
Johan Eriksson
David M. Evans
Albert Hofman
John P. Kemp
Cecilia E. Kim
Norman Klopp
Jari Lahti
Stephen J. Lye
George McMahon
Frank D. Mentch
Martina Mueller-Nurasyid
Paul F. O'Reilly
Inga Prokopenko
Fernando Rivadeneira
Eric A. P. Steegers
Jordi Sunyer
Carla Tiesler
Hanieh Yaghootkar
Monique M. B. Breteler
Stephanie Debette
Myriam Fornage
Vilmundur Gudnason
Lenore J. Launer
Aad van der Lugt
Thomas H. Mosley
Sudha Seshadri
Albert V. Smith
Meike W. Vernooij
Alexandra I. F. Blakemore
Rosetta M. Chiavacci
Bjarke Feenstra
Julio Fernandez-Banet
Struan F. A. Grant
Anna-Liisa Hartikainen
Albert J. van der Heijden
Carmen Iniguez
Mark Lathrop
Wendy L. McArdle
Anne Molgaard
John P. Newnham
Lyle J. Palmer
Aarno Palotie
Annneli Pouta
Susan M. Ring
Ulla Sovio
Marie Standl
Andre G. Uitterlinden
H-Erich Wichmann
Nadja Hawwa Vissing
Charles DeCarli
Cornelia M. van Duijn
Mark I. McCarthy
Gerard H. Koppelman
Xavier Estivill
Andrew T. Hattersley
Mads Melbye
Hans Bisgaard
Craig E. Pennell
Elisabeth Widen
Hakon Hakonarson
George Davey Smith
Joachim Heinrich
Marjo-Riitta Jarvelin
Vincent W. V. Jaddoe
Linda S. Adair
Wei Ang
Mustafa Atalay
Toos van Beijsterveldt
Nienke Bergen
Kelly Benke
Diane J. Berry
Jonathan P. Bradfield
Pimphen Charoen
Lachlan Coin
Diana L. Cousminer
Shikta Das
Oliver S. P. Davis
Paul Elliott
David M. Evans
Bjarke Feenstra
Claudia Flexeder
Tim Frayling
Rachel M. Freathy
Romy Gaillard
Frank Geller
Maria Groen-Blokhuis
Liang-Kee Goh
Monica Guxens
Claire M. A. Haworth
Dexter Hadley
Johannes Hebebrand
Anke Hinney
Joel N. Hirschhorn
John W. Holloway
Claus Holst
Jouke Jan Hottenga
Momoko Horikoshi
Ville Huikari
Elina Hypponen
Carmen Iniguez
Marika Kaakinen
Tuomas O. Kilpelainen
Mirna Kirin
Matthew Kowgier
Hanna-Maaria Lakka
Leslie A. Lange
Debbie A. Lawlor
Terho Lehtimaki
Alex Lewin
Cecilia Lindgren
Virpi Lindi
Reedik Maggi
Julie Marsh
Christel Middeldorp
Iona Millwood
Dennis O. Mook-Kanamori
Jeffrey C. Murray
Michel Nivard
Ellen Aagaard Nohr
Ioanna Ntalla
Emily Oken
Paul F. O'Reilly
Lyle J. Palmer
Kalliope Panoutsopoulou
Jennifer Pararajasingham
Inga Prokopenko
Alina Rodriguez
Rany M. Salem
Sylvain Sebert
Niina Siitonen
Ulla Sovio
Beate St Pourcain
David P. Strachan
Jordi Sunyer
H. Rob Taal
Yik-Ying Teo
Elisabeth Thiering
Carla Tiesler
Andre G. Uitterlinden
Beatriz Valcarcel
Nicole M. Warrington
Scott White
Gonneke Willemsen
Hanieh Yaghootkar
Eleftheria Zeggini
Dorret I. Boomsma
Cyrus Cooper
Xavier Estivill
Matthew Gillman
Struan F. A. Grant
Hakon Hakonarson
Andrew T. Hattersley
Joachim Heinrich
Berthold Hocher
Vincent W. V. Jaddoe
Marjo-Riitta Jarvelin
Timo A. Lakka
Mark I. McCarthy
Mads Melbye
Karen L. Mohlke
George V. Dedoussis
Ken K. Ong
Ewan R. Pearson
Craig E. Pennell
Thomas S. Price
Chris Power
Olli T. Raitakari
Seang-Mei Saw
Andre Scherag
Olli Simell
Thorkild I. A. Sorensen
Nicholas J. Timpson
Elisabeth Widen
James F. Wilson
Wei Ang
Toos van Beijsterveldt
Nienke Bergen
Kelly Benke
Diane J. Berry
Jonathan P. Bradfield
Pimphen Charoen
Lachlan Coin
Diana L. Cousminer
Shikta Das
Paul Elliott
David M. Evans
Tim Frayling
Rachel M. Freathy
Romy Gaillard
Maria Groen-Blokhuis
Monica Guxens
Dexter Hadley
Jouke Jan Hottenga
Ville Huikari
Elina Hypponen
Marika Kaakinen
Matthew Kowgier
Debbie A. Lawlor
Alex Lewin
Cecilia Lindgren
Julie Marsh
Christel Middeldorp
Iona Millwood
Dennis O. Mook-Kanamori
Michel Nivard
Paul F. O'Reilly
Lyle J. Palmer
Inga Prokopenko
Alina Rodriguez
Sylvain Sebert
Ulla Sovio
Beate St Pourcain
Marie Standl
David P. Strachan
Jordi Sunyer
H. Rob Taal
Elisabeth Thiering
Carla Tiesler
Andre G. Uitterlinden
Beatriz Valcarcel
Nicole M. Warrington
Scott White
Gonneke Willemsen
Hanieh Yaghootkar
Dorret I. Boomsma
Xavier Estivill
Struan F. A. Grant
Hakon Hakonarson
Andrew T. Hattersley
Joachim Heinrich
Vincent W. V. Jaddoe
Marjo-Riitta Jarvelin
Mark I. McCarthy
Craig E. Pennell
Chris Power
Nicholas J. Timpson
Elisabeth Widen
M. Arfan Ikram
Myriam Fornage
Albert V. Smith
Sudha Seshadri
Reinhold Schmidt
Stephanie Debette
Henri A. Vrooman
Sigurdur Sigurdsson
Stefan Ropele
Laura H. Coker
W. T. Longstreth
Wiro J. Niessen
Anita L. DeStefano
Alexa Beiser
Alex P. Zijdenbos
Maksim Struchalin
Clifford R. Jack
Mike A. Nalls
Rhoda Au
Albert Hofman
Haukur Gudnason
Aad van der Lugt
Tamara B. Harris
William M. Meeks
Meike W. Vernooij
Mark A. van Buchem
Diane Catellier
Vilmundur Gudnason
B. Gwen Windham
Philip A. Wolf
Cornelia M. van Duijn
Thomas H. Mosley
Helena Schmidt
Lenore J. Launer
Monique M. B. Breteler
Charles DeCarli
Institut für Biochemie und Biologie
Referiert
35935
2012
2012
eng
539
+
7
5
44
article
Nature Publ. Group
New York
Early Growth Genetics EGG Consorti, Cohorts Heart Aging Res Genomic Ep
1
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Common variants at 6q22 and 17q21 are associated with intracranial volume
During aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain volume in late life reflect different genetic influences. Our genome-wide association study (GWAS) in 8,175 community-dwelling elderly persons did not reveal any associations at genome-wide significance (P < 5 x 10(-8)) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 x 10(-11)), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 x 10(-12)), localized to the inversion on chromosome 17q21. We replicated the associations of these loci with intracranial volume in a separate sample of 1,752 elderly persons (P = 1.1 x 10(-3) for 6q22 and 1.2 x 10(-3) for 17q21). Furthermore, we also found suggestive associations of the 17q21 locus with head circumference in 10,768 children (mean age of 14.5 months). Our data identify two loci associated with head size, with the inversion at 17q21 also likely to be involved in attaining maximal brain size.
Nature genetics
10.1038/ng.2245
1061-4036
wos:2011-2013
WOS:000303416300014
Ikram, MA (reprint author), Univ Med Ctr, Erasmus Med Ctr, Dept Epidemiol, Rotterdam, Netherlands., m.a.ikram@erasmusmc.nl; cdecarli@ucdavis.edu
US National Institute on Aging (NIA) [N01-AG-12100]; US NHLBI
[N01-HC-55015, N01-HC-55016, N01-HC-55018, N01-HC-55019, N01-HC-55020,
N01-HC-55021, N01-HC-55022, R01-HL087641, R01-HL093029]; National Human
Genome Research Institute [U01-HG004402]; NIH [HHSN268200625226C]; NIH
Roadmap for Medical Research [UL1RR025005]; Austrian Science Fond (FWF)
[P20545-P05, P13180]; Framingham Heart Study of the NHLBI
[N01-HC-25195]; Affymetrix, Inc [N02-HL-6-4278]; Robert Dawson Evans
Endowment of the Department of Medicine at Boston University School of
Medicine and Boston Medical Center; National Institute of Neurological
Disorders and Stroke [NS17950]; NHLBI [HL093029, 5R01HL087679-02,
1RL1MH083268-01]; NIA [AG08122, AG16495, AG033193, AG033040, AG031287,
P30AG013846]; Netherlands Organisation of Scientific Research (NWO)
[175.010.2005.011, 911-03-012]; Research Institute for Diseases in the
Elderly [014-93-015]; Netherlands Genomics Initiative (NGI)- NWO
[050-060-810]; Erasmus Medical Center; Erasmus University Organization
for Health Research and Development (ZonMw); Research Institute for
Diseases in the Elderly (RIDE); Ministry of Education, Culture and
Science; Ministry for Health, Welfare and Sports; European Commission
(DG XII); Municipality of Rotterdam; NWO [918-46-615, 904-61-096,
904-61-133, 948-00-010]; Nederlandse Hartstichting [2009B102];
Internationaal Parkinson Fonds; Academy of Finland [104781, 120315,
1114194]; University Hospital Oulu, Biocenter, University of Oulu;
ENGAGE; UK MRC [G0500539, 74882]; Wellcome Trust [GR069224, 076467];
Biocentrum Helsinki; Erasmus Medical Center, Rotterdam; Erasmus
University Rotterdam; Netherlands Organization for Health Research and
Development (ZonMw) [21000074, 90700303, 916.10159]; Dutch Kidney
Foundation [C08.2251]; Children's Hospital of Philadelphia; Cotswold
Foundation; US NIH [1R01HD056465-01A1]; Healthway Western Australia;
National Health and Medical Research Council of Australia [572613];
Canadian Institutes of Health Research [MOP 82893]; University of
Bristol; [HEALTH-F4-2007-201413]
M. Arfan Ikram
Myriam Fornage
Albert V. Smith
Sudha Seshadri
Reinhold Schmidt
Stephanie Debette
Henri A. Vrooman
Sigurdur Sigurdsson
Stefan Ropele
H. Rob Taal
Dennis O. Mook-Kanamori
Laura H. Coker
W. T. Longstreth
Wiro J. Niessen
Anita L. DeStefano
Alexa Beiser
Alex P. Zijdenbos
Maksim Struchalin
Clifford R. Jack
Fernando Rivadeneira
Andre G. Uitterlinden
David S. Knopman
Anna-Liisa Hartikainen
Craig E. Pennell
Elisabeth Thiering
Eric A. P. Steegers
Hakon Hakonarson
Joachim Heinrich
Lyle J. Palmer
Marjo-Riitta Jarvelin
Mark I. McCarthy
Struan F. A. Grant
Beate St Pourcain
Nicholas J. Timpson
George Davey Smith
Ulla Sovio
Mike A. Nalls
Rhoda Au
Albert Hofman
Haukur Gudnason
Aad van der Lugt
Tamara B. Harris
William M. Meeks
Meike W. Vernooij
Mark A. van Buchem
Diane Catellier
Vincent W. V. Jaddoe
Vilmundur Gudnason
B. Gwen Windham
Philip A. Wolf
Cornelia M. van Duijn
Thomas H. Mosley
Helena Schmidt
Lenore J. Launer
Monique M. B. Breteler
Charles DeCarli
Linda S. Adair
Wei Ang
Mustafa Atalay
Toos vanBeijsterveldt
Nienke Bergen
Kelly Benke
Diane J. Berry
Lachlan Coin
Oliver S. P. Davis
Paul Elliott
Claudia Flexeder
Tim Frayling
Romy Gaillard
Maria Groen-Blokhuis
Liang-Kee Goh
Claire M. A. Haworth
Dexter Hadley
Johannes Hebebrand
Anke Hinney
Joel N. Hirschhorn
John W. Holloway
Claus Holst
Jouke Jan Hottenga
Momoko Horikoshi
Ville Huikari
Elina Hypponen
Tuomas O. Kilpelainen
Mirna Kirin
Matthew Kowgier
Hanna-Maaria Lakka
Leslie A. Lange
Debbie A. Lawlor
Terho Lehtimaki
Alex Lewin
Cecilia Lindgren
Virpi Lindi
Reedik Maggi
Julie Marsh
Christel Middeldorp
Iona Millwood
Jeffrey C. Murray
Michel Nivard
Ellen Aagaard Nohr
Ioanna Ntalla
Emily Oken
Kalliope Panoutsopoulou
Jennifer Pararajasingham
Alina Rodriguez
Rany M. Salem
Sylvain Sebert
Niina Siitonen
David P. Strachan
Yik-Ying Teo
Beatriz Valcarcel
Gonneke Willemsen
Eleftheria Zeggini
Dorret I. Boomsma
Cyrus Cooper
Matthew Gillman
Berthold Hocher
Timo A. Lakka
Karen L. Mohlke
George V. Dedoussis
Ken K. Ong
Ewan R. Pearson
Thomas S. Price
Chris Power
Olli T. Raitakari
Seang-Mei Saw
Andre Scherag
Olli Simell
Thorkild I. A. Sorensen
James F. Wilson
Institut für Ernährungswissenschaft
Referiert