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CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. / Macé, Aurélien; Tuke, Marcus A; Deelen, Patrick; Kristiansson, Kati; Mattsson, Hannele; Nõukas, Margit; Sapkota, Yadav; Schick, Ursula; Porcu, Eleonora; Rüeger, Sina; McDaid, Aaron F; Porteous, David; Winkler, Thomas W; Salvi, Erika; Shrine, Nick; Liu, Xueping; Ang, Wei Q; Zhang, Weihua; Feitosa, Mary F; Venturini, Cristina; van der Most, Peter J; Rosengren, Anders; Wood, Andrew R; Beaumont, Robin N; Jones, Samuel E; Ruth, Katherine S; Yaghootkar, Hanieh; Tyrrell, Jessica; Havulinna, Aki S; Boers, Harmen; Mägi, Reedik; Kriebel, Jennifer; Müller-Nurasyid, Martina; Perola, Markus; Nieminen, Markku; Lokki, Marja-Liisa; Kähönen, Mika; Viikari, Jorma S; Geller, Frank; Lahti, Jari; Palotie, Aarno; Koponen, Päivikki; Lundqvist, Annamari; Rissanen, Harri; Bottinger, Erwin P; Afaq, Saima; Wojczynski, Mary K; Lenzini, Petra; Nolte, Ilja M; Sparsø, Thomas; Schupf, Nicole; Christensen, Kaare; Perls, Thomas T; Newman, Anne B; Werge, Thomas; Snieder, Harold; Spector, Timothy D; Chambers, John C; Koskinen, Seppo; Melbye, Mads; Raitakari, Olli T; Lehtimäki, Terho; Tobin, Martin D; Wain, Louise V; Sinisalo, Juha; Peters, Annette; Meitinger, Thomas; Martin, Nicholas G; Wray, Naomi R; Montgomery, Grant W; Medland, Sarah E; Swertz, Morris A; Vartiainen, Erkki; Borodulin, Katja; Männistö, Satu; Murray, Anna; Bochud, Murielle; Jacquemont, Sébastien; Rivadeneira, Fernando; Hansen, Thomas F; Oldehinkel, Albertine J; Mangino, Massimo; Province, Michael A; Deloukas, Panos; Kooner, Jaspal S; Freathy, Rachel M; Pennell, Craig; Feenstra, Bjarke; Strachan, David P; Lettre, Guillaume; Hirschhorn, Joel; Cusi, Daniele; Heid, Iris M; Hayward, Caroline; Männik, Katrin; Beckmann, Jacques S; Loos, Ruth J F; Nyholt, Dale R; Metspalu, Andres; Eriksson, Johan G; Weedon, Michael N; Salomaa, Veikko; Franke, Lude; Reymond, Alexandre; Frayling, Timothy M; Kutalik, Zoltán.
I:
Nature Communications, Bind 8, 744, 2017.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
Macé, A, Tuke, MA, Deelen, P, Kristiansson, K, Mattsson, H, Nõukas, M, Sapkota, Y, Schick, U, Porcu, E, Rüeger, S, McDaid, AF, Porteous, D, Winkler, TW, Salvi, E, Shrine, N, Liu, X, Ang, WQ, Zhang, W, Feitosa, MF, Venturini, C, van der Most, PJ, Rosengren, A, Wood, AR, Beaumont, RN, Jones, SE, Ruth, KS, Yaghootkar, H, Tyrrell, J, Havulinna, AS, Boers, H, Mägi, R, Kriebel, J, Müller-Nurasyid, M, Perola, M, Nieminen, M, Lokki, M-L, Kähönen, M, Viikari, JS, Geller, F, Lahti, J, Palotie, A, Koponen, P, Lundqvist, A, Rissanen, H, Bottinger, EP, Afaq, S, Wojczynski, MK, Lenzini, P, Nolte, IM, Sparsø, T, Schupf, N, Christensen, K, Perls, TT, Newman, AB
, Werge, T, Snieder, H, Spector, TD, Chambers, JC, Koskinen, S, Melbye, M, Raitakari, OT, Lehtimäki, T, Tobin, MD, Wain, LV, Sinisalo, J, Peters, A, Meitinger, T, Martin, NG, Wray, NR, Montgomery, GW, Medland, SE, Swertz, MA, Vartiainen, E, Borodulin, K, Männistö, S, Murray, A, Bochud, M, Jacquemont, S, Rivadeneira, F, Hansen, TF, Oldehinkel, AJ, Mangino, M, Province, MA, Deloukas, P, Kooner, JS, Freathy, RM, Pennell, C, Feenstra, B, Strachan, DP, Lettre, G, Hirschhorn, J, Cusi, D, Heid, IM, Hayward, C, Männik, K, Beckmann, JS, Loos, RJF, Nyholt, DR, Metspalu, A, Eriksson, JG, Weedon, MN, Salomaa, V, Franke, L, Reymond, A, Frayling, TM & Kutalik, Z 2017, '
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits',
Nature Communications, bind 8, 744.
https://doi.org/10.1038/s41467-017-00556-xAPA
Macé, A., Tuke, M. A., Deelen, P., Kristiansson, K., Mattsson, H., Nõukas, M., Sapkota, Y., Schick, U., Porcu, E., Rüeger, S., McDaid, A. F., Porteous, D., Winkler, T. W., Salvi, E., Shrine, N., Liu, X., Ang, W. Q., Zhang, W., Feitosa, M. F., ... Kutalik, Z. (2017).
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.
Nature Communications,
8, [744].
https://doi.org/10.1038/s41467-017-00556-xVancouver
Macé A, Tuke MA, Deelen P, Kristiansson K, Mattsson H, Nõukas M o.a.
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.
Nature Communications. 2017;8. 744.
https://doi.org/10.1038/s41467-017-00556-xAuthor
Macé, Aurélien ; Tuke, Marcus A ; Deelen, Patrick ; Kristiansson, Kati ; Mattsson, Hannele ; Nõukas, Margit ; Sapkota, Yadav ; Schick, Ursula ; Porcu, Eleonora ; Rüeger, Sina ; McDaid, Aaron F ; Porteous, David ; Winkler, Thomas W ; Salvi, Erika ; Shrine, Nick ; Liu, Xueping ; Ang, Wei Q ; Zhang, Weihua ; Feitosa, Mary F ; Venturini, Cristina ; van der Most, Peter J ; Rosengren, Anders ; Wood, Andrew R ; Beaumont, Robin N ; Jones, Samuel E ; Ruth, Katherine S ; Yaghootkar, Hanieh ; Tyrrell, Jessica ; Havulinna, Aki S ; Boers, Harmen ; Mägi, Reedik ; Kriebel, Jennifer ; Müller-Nurasyid, Martina ; Perola, Markus ; Nieminen, Markku ; Lokki, Marja-Liisa ; Kähönen, Mika ; Viikari, Jorma S ; Geller, Frank ; Lahti, Jari ; Palotie, Aarno ; Koponen, Päivikki ; Lundqvist, Annamari ; Rissanen, Harri ; Bottinger, Erwin P ; Afaq, Saima ; Wojczynski, Mary K ; Lenzini, Petra ; Nolte, Ilja M ; Sparsø, Thomas ; Schupf, Nicole ; Christensen, Kaare ; Perls, Thomas T ; Newman, Anne B ; Werge, Thomas ; Snieder, Harold ; Spector, Timothy D ; Chambers, John C ; Koskinen, Seppo ; Melbye, Mads ; Raitakari, Olli T ; Lehtimäki, Terho ; Tobin, Martin D ; Wain, Louise V ; Sinisalo, Juha ; Peters, Annette ; Meitinger, Thomas ; Martin, Nicholas G ; Wray, Naomi R ; Montgomery, Grant W ; Medland, Sarah E ; Swertz, Morris A ; Vartiainen, Erkki ; Borodulin, Katja ; Männistö, Satu ; Murray, Anna ; Bochud, Murielle ; Jacquemont, Sébastien ; Rivadeneira, Fernando ; Hansen, Thomas F ; Oldehinkel, Albertine J ; Mangino, Massimo ; Province, Michael A ; Deloukas, Panos ; Kooner, Jaspal S ; Freathy, Rachel M ; Pennell, Craig ; Feenstra, Bjarke ; Strachan, David P ; Lettre, Guillaume ; Hirschhorn, Joel ; Cusi, Daniele ; Heid, Iris M ; Hayward, Caroline ; Männik, Katrin ; Beckmann, Jacques S ; Loos, Ruth J F ; Nyholt, Dale R ; Metspalu, Andres ; Eriksson, Johan G ; Weedon, Michael N ; Salomaa, Veikko ; Franke, Lude ; Reymond, Alexandre ; Frayling, Timothy M ; Kutalik, Zoltán. / CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. I: Nature Communications. 2017 ; Bind 8.
Bibtex
@article{b3cde4c4d88f4beb9fc34f5858ccac8d,
title = "CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits",
abstract = "There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV association meta-analysis on anthropometric traits in up to 191,161 adult samples from 26 cohorts. The study reveals five CNV associations at 1q21.1, 3q29, 7q11.23, 11p14.2, and 18q21.32 and confirms two known loci at 16p11.2 and 22q11.21, implicating at least one anthropometric trait. The discovered CNVs are recurrent and rare (0.01-0.2%), with large effects on height (>2.4 cm), weight (>5 kg), and body mass index (BMI) (>3.5 kg/m(2)). Burden analysis shows a 0.41 cm decrease in height, a 0.003 increase in waist-to-hip ratio and increase in BMI by 0.14 kg/m(2) for each Mb of total deletion burden (P = 2.5 × 10(-10), 6.0 × 10(-5), and 2.9 × 10(-3)). Our study provides evidence that the same genes (e.g., MC4R, FIBIN, and FMO5) harbor both common and rare variants affecting body size and that anthropometric traits share genetic loci with developmental and psychiatric disorders.Individual SNPs have small effects on anthropometric traits, yet the impact of CNVs has remained largely unknown. Here, Kutalik and co-workers perform a large-scale genome-wide meta-analysis of structural variation and find rare CNVs associated with height, weight and BMI with large effect sizes.",
keywords = "Journal Article",
author = "Aur{\'e}lien Mac{\'e} and Tuke, {Marcus A} and Patrick Deelen and Kati Kristiansson and Hannele Mattsson and Margit N{\~o}ukas and Yadav Sapkota and Ursula Schick and Eleonora Porcu and Sina R{\"u}eger and McDaid, {Aaron F} and David Porteous and Winkler, {Thomas W} and Erika Salvi and Nick Shrine and Xueping Liu and Ang, {Wei Q} and Weihua Zhang and Feitosa, {Mary F} and Cristina Venturini and {van der Most}, {Peter J} and Anders Rosengren and Wood, {Andrew R} and Beaumont, {Robin N} and Jones, {Samuel E} and Ruth, {Katherine S} and Hanieh Yaghootkar and Jessica Tyrrell and Havulinna, {Aki S} and Harmen Boers and Reedik M{\"a}gi and Jennifer Kriebel and Martina M{\"u}ller-Nurasyid and Markus Perola and Markku Nieminen and Marja-Liisa Lokki and Mika K{\"a}h{\"o}nen and Viikari, {Jorma S} and Frank Geller and Jari Lahti and Aarno Palotie and P{\"a}ivikki Koponen and Annamari Lundqvist and Harri Rissanen and Bottinger, {Erwin P} and Saima Afaq and Wojczynski, {Mary K} and Petra Lenzini and Nolte, {Ilja M} and Thomas Spars{\o} and Nicole Schupf and Kaare Christensen and Perls, {Thomas T} and Newman, {Anne B} and Thomas Werge and Harold Snieder and Spector, {Timothy D} and Chambers, {John C} and Seppo Koskinen and Mads Melbye and Raitakari, {Olli T} and Terho Lehtim{\"a}ki and Tobin, {Martin D} and Wain, {Louise V} and Juha Sinisalo and Annette Peters and Thomas Meitinger and Martin, {Nicholas G} and Wray, {Naomi R} and Montgomery, {Grant W} and Medland, {Sarah E} and Swertz, {Morris A} and Erkki Vartiainen and Katja Borodulin and Satu M{\"a}nnist{\"o} and Anna Murray and Murielle Bochud and S{\'e}bastien Jacquemont and Fernando Rivadeneira and Hansen, {Thomas F} and Oldehinkel, {Albertine J} and Massimo Mangino and Province, {Michael A} and Panos Deloukas and Kooner, {Jaspal S} and Freathy, {Rachel M} and Craig Pennell and Bjarke Feenstra and Strachan, {David P} and Guillaume Lettre and Joel Hirschhorn and Daniele Cusi and Heid, {Iris M} and Caroline Hayward and Katrin M{\"a}nnik and Beckmann, {Jacques S} and Loos, {Ruth J F} and Nyholt, {Dale R} and Andres Metspalu and Eriksson, {Johan G} and Weedon, {Michael N} and Veikko Salomaa and Lude Franke and Alexandre Reymond and Frayling, {Timothy M} and Zolt{\'a}n Kutalik",
year = "2017",
doi = "10.1038/s41467-017-00556-x",
language = "English",
volume = "8",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "nature publishing group",
}
RIS
TY - JOUR
T1 - CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits
AU - Macé, Aurélien
AU - Tuke, Marcus A
AU - Deelen, Patrick
AU - Kristiansson, Kati
AU - Mattsson, Hannele
AU - Nõukas, Margit
AU - Sapkota, Yadav
AU - Schick, Ursula
AU - Porcu, Eleonora
AU - Rüeger, Sina
AU - McDaid, Aaron F
AU - Porteous, David
AU - Winkler, Thomas W
AU - Salvi, Erika
AU - Shrine, Nick
AU - Liu, Xueping
AU - Ang, Wei Q
AU - Zhang, Weihua
AU - Feitosa, Mary F
AU - Venturini, Cristina
AU - van der Most, Peter J
AU - Rosengren, Anders
AU - Wood, Andrew R
AU - Beaumont, Robin N
AU - Jones, Samuel E
AU - Ruth, Katherine S
AU - Yaghootkar, Hanieh
AU - Tyrrell, Jessica
AU - Havulinna, Aki S
AU - Boers, Harmen
AU - Mägi, Reedik
AU - Kriebel, Jennifer
AU - Müller-Nurasyid, Martina
AU - Perola, Markus
AU - Nieminen, Markku
AU - Lokki, Marja-Liisa
AU - Kähönen, Mika
AU - Viikari, Jorma S
AU - Geller, Frank
AU - Lahti, Jari
AU - Palotie, Aarno
AU - Koponen, Päivikki
AU - Lundqvist, Annamari
AU - Rissanen, Harri
AU - Bottinger, Erwin P
AU - Afaq, Saima
AU - Wojczynski, Mary K
AU - Lenzini, Petra
AU - Nolte, Ilja M
AU - Sparsø, Thomas
AU - Schupf, Nicole
AU - Christensen, Kaare
AU - Perls, Thomas T
AU - Newman, Anne B
AU - Werge, Thomas
AU - Snieder, Harold
AU - Spector, Timothy D
AU - Chambers, John C
AU - Koskinen, Seppo
AU - Melbye, Mads
AU - Raitakari, Olli T
AU - Lehtimäki, Terho
AU - Tobin, Martin D
AU - Wain, Louise V
AU - Sinisalo, Juha
AU - Peters, Annette
AU - Meitinger, Thomas
AU - Martin, Nicholas G
AU - Wray, Naomi R
AU - Montgomery, Grant W
AU - Medland, Sarah E
AU - Swertz, Morris A
AU - Vartiainen, Erkki
AU - Borodulin, Katja
AU - Männistö, Satu
AU - Murray, Anna
AU - Bochud, Murielle
AU - Jacquemont, Sébastien
AU - Rivadeneira, Fernando
AU - Hansen, Thomas F
AU - Oldehinkel, Albertine J
AU - Mangino, Massimo
AU - Province, Michael A
AU - Deloukas, Panos
AU - Kooner, Jaspal S
AU - Freathy, Rachel M
AU - Pennell, Craig
AU - Feenstra, Bjarke
AU - Strachan, David P
AU - Lettre, Guillaume
AU - Hirschhorn, Joel
AU - Cusi, Daniele
AU - Heid, Iris M
AU - Hayward, Caroline
AU - Männik, Katrin
AU - Beckmann, Jacques S
AU - Loos, Ruth J F
AU - Nyholt, Dale R
AU - Metspalu, Andres
AU - Eriksson, Johan G
AU - Weedon, Michael N
AU - Salomaa, Veikko
AU - Franke, Lude
AU - Reymond, Alexandre
AU - Frayling, Timothy M
AU - Kutalik, Zoltán
PY - 2017
Y1 - 2017
N2 - There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV association meta-analysis on anthropometric traits in up to 191,161 adult samples from 26 cohorts. The study reveals five CNV associations at 1q21.1, 3q29, 7q11.23, 11p14.2, and 18q21.32 and confirms two known loci at 16p11.2 and 22q11.21, implicating at least one anthropometric trait. The discovered CNVs are recurrent and rare (0.01-0.2%), with large effects on height (>2.4 cm), weight (>5 kg), and body mass index (BMI) (>3.5 kg/m(2)). Burden analysis shows a 0.41 cm decrease in height, a 0.003 increase in waist-to-hip ratio and increase in BMI by 0.14 kg/m(2) for each Mb of total deletion burden (P = 2.5 × 10(-10), 6.0 × 10(-5), and 2.9 × 10(-3)). Our study provides evidence that the same genes (e.g., MC4R, FIBIN, and FMO5) harbor both common and rare variants affecting body size and that anthropometric traits share genetic loci with developmental and psychiatric disorders.Individual SNPs have small effects on anthropometric traits, yet the impact of CNVs has remained largely unknown. Here, Kutalik and co-workers perform a large-scale genome-wide meta-analysis of structural variation and find rare CNVs associated with height, weight and BMI with large effect sizes.
AB - There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV association meta-analysis on anthropometric traits in up to 191,161 adult samples from 26 cohorts. The study reveals five CNV associations at 1q21.1, 3q29, 7q11.23, 11p14.2, and 18q21.32 and confirms two known loci at 16p11.2 and 22q11.21, implicating at least one anthropometric trait. The discovered CNVs are recurrent and rare (0.01-0.2%), with large effects on height (>2.4 cm), weight (>5 kg), and body mass index (BMI) (>3.5 kg/m(2)). Burden analysis shows a 0.41 cm decrease in height, a 0.003 increase in waist-to-hip ratio and increase in BMI by 0.14 kg/m(2) for each Mb of total deletion burden (P = 2.5 × 10(-10), 6.0 × 10(-5), and 2.9 × 10(-3)). Our study provides evidence that the same genes (e.g., MC4R, FIBIN, and FMO5) harbor both common and rare variants affecting body size and that anthropometric traits share genetic loci with developmental and psychiatric disorders.Individual SNPs have small effects on anthropometric traits, yet the impact of CNVs has remained largely unknown. Here, Kutalik and co-workers perform a large-scale genome-wide meta-analysis of structural variation and find rare CNVs associated with height, weight and BMI with large effect sizes.
KW - Journal Article
U2 - 10.1038/s41467-017-00556-x
DO - 10.1038/s41467-017-00556-x
M3 - Journal article
C2 - 28963451
VL - 8
JO - Nature Communications
JF - Nature Communications
SN - 2041-1723
M1 - 744
ER -
