Standard
Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels. / Van Leeuwen, Elisabeth M.; Karssen, Lennart C.; Deelen, Joris; Isaacs, Aaron; Medina-Gomez, Carolina; Mbarek, Hamdi; Kanterakis, Alexandros; Trompet, Stella; Postmus, Iris; Verweij, Niek; Van Enckevort, David J.; Huffman, Jennifer E.; White, Charles C.; Feitosa, Mary F.; Bartz, Traci M.; Manichaikul, Ani; Joshi, Peter K.; Peloso, Gina M.; Deelen, Patrick; Van Dijk, Freerk; Willemsen, Gonneke; De Geus, Eco J.; Milaneschi, Yuri; Penninx, Brenda W J H; Francioli, Laurent C.; Menelaou, Androniki; Pulit, Sara L.; Rivadeneira, Fernando; Hofman, Albert; Oostra, Ben A.; Franco, Oscar H.; Leach, Irene Mateo; Beekman, Marian; De Craen, Anton J M; Uh, Hae Won; Trochet, Holly; Hocking, Lynne J.; Porteous, David J.; Sattar, Naveed; Packard, Chris J.; Buckley, Brendan M.; Brody, Jennifer A.; Bis, Joshua C.; Rotter, Jerome I.; Mychaleckyj, Josyf C.; Campbell, Harry; Duan, Qing; Lange, Leslie A.; Wilson, James F.; Hayward, Caroline; Polasek, Ozren; Vitart, Veronique; Rudan, Igor; Wright, Alan F.; Rich, Stephen S.; Psaty, Bruce M.; Borecki, Ingrid B.; Kearney, Patricia M.; Stott, David J.; Cupples, L. Adrienne; Jukema, J. Wouter; Van Der Harst, Pim; Sijbrands, Eric J.; Hottenga, Jouke Jan; Uitterlinden, Andre G.; Swertz, Morris A.; Van Ommen, Gert Jan B; De Bakker, Paul I W; Eline Slagboom, P.; Boomsma, Dorret I.; Wijmenga, Cisca; Van Duijn, Cornelia M.; Neerincx, Pieter B T; Elbers, Clara C.; Palamara, Pier Francesco; Peer, Itsik; Abdellaoui, Abdel; Kloosterman, Wigard P.; Van Oven, Mannis; Vermaat, Martijn; Li, Mingkun; Laros, Jeroen F J; Stoneking, Mark; De Knijff, Peter; Kayser, Manfred; Veldink, Jan H.; Van Den Berg, Leonard H.; Byelas, Heorhiy; Den Dunnen, Johan T.; Dijkstra, Martijn; Amin, Najaf; Van Der Velde, K. Joeri; Van Setten, Jessica; Kattenberg, Mathijs; Van Schaik, Barbera D C; Bot, Jan; Nijman, Isaäc J.; Mei, Hailiang; Koval, Vyacheslav; Ye, Kai; Lameijer, Eric Wubbo; Moed, Matthijs H.; Hehir-Kwa, Jayne Y.; Handsaker, Robert E.; Sunyaev, Shamil R.; Sohail, Mashaal; Hormozdiari, Fereydoun; Marschall, Tobias; Schönhuth, Alexander; Guryev, Victor; Suchiman, H. Eka D; Wolffenbuttel, Bruce H.; Platteel, Mathieu; Pitts, Steven J.; Potluri, Shobha; Cox, David R.; Li, Qibin; Li, Yingrui; Du, Yuanping; Chen, Ruoyan; Cao, Hongzhi; Li, Ning; Cao, Sujie; Wang, Jun; Bovenberg, Jasper A.
In:
Nature Communications, Vol. 6, 6065, 2015.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
Van Leeuwen, EM, Karssen, LC, Deelen, J, Isaacs, A, Medina-Gomez, C, Mbarek, H, Kanterakis, A, Trompet, S, Postmus, I, Verweij, N, Van Enckevort, DJ, Huffman, JE, White, CC, Feitosa, MF, Bartz, TM, Manichaikul, A, Joshi, PK, Peloso, GM, Deelen, P, Van Dijk, F, Willemsen, G, De Geus, EJ, Milaneschi, Y, Penninx, BWJH, Francioli, LC, Menelaou, A, Pulit, SL, Rivadeneira, F, Hofman, A, Oostra, BA, Franco, OH, Leach, IM, Beekman, M, De Craen, AJM, Uh, HW, Trochet, H, Hocking, LJ, Porteous, DJ, Sattar, N, Packard, CJ, Buckley, BM, Brody, JA, Bis, JC, Rotter, JI, Mychaleckyj, JC, Campbell, H, Duan, Q, Lange, LA, Wilson, JF, Hayward, C, Polasek, O, Vitart, V, Rudan, I, Wright, AF, Rich, SS, Psaty, BM, Borecki, IB, Kearney, PM, Stott, DJ, Cupples, LA, Jukema, JW, Van Der Harst, P, Sijbrands, EJ, Hottenga, JJ, Uitterlinden, AG, Swertz, MA, Van Ommen, GJB, De Bakker, PIW, Eline Slagboom, P, Boomsma, DI, Wijmenga, C, Van Duijn, CM, Neerincx, PBT, Elbers, CC, Palamara, PF, Peer, I, Abdellaoui, A, Kloosterman, WP, Van Oven, M, Vermaat, M, Li, M, Laros, JFJ, Stoneking, M, De Knijff, P, Kayser, M, Veldink, JH, Van Den Berg, LH, Byelas, H, Den Dunnen, JT, Dijkstra, M, Amin, N, Van Der Velde, KJ, Van Setten, J, Kattenberg, M, Van Schaik, BDC, Bot, J, Nijman, IJ, Mei, H, Koval, V, Ye, K, Lameijer, EW, Moed, MH, Hehir-Kwa, JY, Handsaker, RE, Sunyaev, SR, Sohail, M, Hormozdiari, F, Marschall, T, Schönhuth, A, Guryev, V, Suchiman, HED, Wolffenbuttel, BH, Platteel, M, Pitts, SJ, Potluri, S, Cox, DR, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J & Bovenberg, JA 2015, '
Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels',
Nature Communications, vol. 6, 6065.
https://doi.org/10.1038/ncomms7065APA
Van Leeuwen, E. M., Karssen, L. C., Deelen, J., Isaacs, A., Medina-Gomez, C., Mbarek, H., Kanterakis, A., Trompet, S., Postmus, I., Verweij, N., Van Enckevort, D. J., Huffman, J. E., White, C. C., Feitosa, M. F., Bartz, T. M., Manichaikul, A., Joshi, P. K., Peloso, G. M., Deelen, P., ... Bovenberg, J. A. (2015).
Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.
Nature Communications,
6, [6065].
https://doi.org/10.1038/ncomms7065Vancouver
Van Leeuwen EM, Karssen LC, Deelen J, Isaacs A, Medina-Gomez C, Mbarek H et al.
Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.
Nature Communications. 2015;6. 6065.
https://doi.org/10.1038/ncomms7065Author
Van Leeuwen, Elisabeth M. ; Karssen, Lennart C. ; Deelen, Joris ; Isaacs, Aaron ; Medina-Gomez, Carolina ; Mbarek, Hamdi ; Kanterakis, Alexandros ; Trompet, Stella ; Postmus, Iris ; Verweij, Niek ; Van Enckevort, David J. ; Huffman, Jennifer E. ; White, Charles C. ; Feitosa, Mary F. ; Bartz, Traci M. ; Manichaikul, Ani ; Joshi, Peter K. ; Peloso, Gina M. ; Deelen, Patrick ; Van Dijk, Freerk ; Willemsen, Gonneke ; De Geus, Eco J. ; Milaneschi, Yuri ; Penninx, Brenda W J H ; Francioli, Laurent C. ; Menelaou, Androniki ; Pulit, Sara L. ; Rivadeneira, Fernando ; Hofman, Albert ; Oostra, Ben A. ; Franco, Oscar H. ; Leach, Irene Mateo ; Beekman, Marian ; De Craen, Anton J M ; Uh, Hae Won ; Trochet, Holly ; Hocking, Lynne J. ; Porteous, David J. ; Sattar, Naveed ; Packard, Chris J. ; Buckley, Brendan M. ; Brody, Jennifer A. ; Bis, Joshua C. ; Rotter, Jerome I. ; Mychaleckyj, Josyf C. ; Campbell, Harry ; Duan, Qing ; Lange, Leslie A. ; Wilson, James F. ; Hayward, Caroline ; Polasek, Ozren ; Vitart, Veronique ; Rudan, Igor ; Wright, Alan F. ; Rich, Stephen S. ; Psaty, Bruce M. ; Borecki, Ingrid B. ; Kearney, Patricia M. ; Stott, David J. ; Cupples, L. Adrienne ; Jukema, J. Wouter ; Van Der Harst, Pim ; Sijbrands, Eric J. ; Hottenga, Jouke Jan ; Uitterlinden, Andre G. ; Swertz, Morris A. ; Van Ommen, Gert Jan B ; De Bakker, Paul I W ; Eline Slagboom, P. ; Boomsma, Dorret I. ; Wijmenga, Cisca ; Van Duijn, Cornelia M. ; Neerincx, Pieter B T ; Elbers, Clara C. ; Palamara, Pier Francesco ; Peer, Itsik ; Abdellaoui, Abdel ; Kloosterman, Wigard P. ; Van Oven, Mannis ; Vermaat, Martijn ; Li, Mingkun ; Laros, Jeroen F J ; Stoneking, Mark ; De Knijff, Peter ; Kayser, Manfred ; Veldink, Jan H. ; Van Den Berg, Leonard H. ; Byelas, Heorhiy ; Den Dunnen, Johan T. ; Dijkstra, Martijn ; Amin, Najaf ; Van Der Velde, K. Joeri ; Van Setten, Jessica ; Kattenberg, Mathijs ; Van Schaik, Barbera D C ; Bot, Jan ; Nijman, Isaäc J. ; Mei, Hailiang ; Koval, Vyacheslav ; Ye, Kai ; Lameijer, Eric Wubbo ; Moed, Matthijs H. ; Hehir-Kwa, Jayne Y. ; Handsaker, Robert E. ; Sunyaev, Shamil R. ; Sohail, Mashaal ; Hormozdiari, Fereydoun ; Marschall, Tobias ; Schönhuth, Alexander ; Guryev, Victor ; Suchiman, H. Eka D ; Wolffenbuttel, Bruce H. ; Platteel, Mathieu ; Pitts, Steven J. ; Potluri, Shobha ; Cox, David R. ; Li, Qibin ; Li, Yingrui ; Du, Yuanping ; Chen, Ruoyan ; Cao, Hongzhi ; Li, Ning ; Cao, Sujie ; Wang, Jun ; Bovenberg, Jasper A. / Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels. In: Nature Communications. 2015 ; Vol. 6.
Bibtex
@article{5761109d46a445e1829f04a64bae5ede,
title = "Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels",
abstract = "Variants associated with blood lipid levels may be population-specific. To identify low-frequency variants associated with this phenotype, population-specific reference panels may be used. Here we impute nine large Dutch biobanks (∼35,000 samples) with the population-specific reference panel created by the Genome of the Netherlands Project and perform association testing with blood lipid levels. We report the discovery of five novel associations at four loci (P value -4), including a rare missense variant in ABCA6 (rs77542162, p.Cys1359Arg, frequency 0.034), which is predicted to be deleterious. The frequency of this ABCA6 variant is 3.65-fold increased in the Dutch and its effect (βLDL-C =0.135, βTC =0.140) is estimated to be very similar to those observed for single variants in well-known lipid genes, such as LDLR.",
author = "{Van Leeuwen}, {Elisabeth M.} and Karssen, {Lennart C.} and Joris Deelen and Aaron Isaacs and Carolina Medina-Gomez and Hamdi Mbarek and Alexandros Kanterakis and Stella Trompet and Iris Postmus and Niek Verweij and {Van Enckevort}, {David J.} and Huffman, {Jennifer E.} and White, {Charles C.} and Feitosa, {Mary F.} and Bartz, {Traci M.} and Ani Manichaikul and Joshi, {Peter K.} and Peloso, {Gina M.} and Patrick Deelen and {Van Dijk}, Freerk and Gonneke Willemsen and {De Geus}, {Eco J.} and Yuri Milaneschi and Penninx, {Brenda W J H} and Francioli, {Laurent C.} and Androniki Menelaou and Pulit, {Sara L.} and Fernando Rivadeneira and Albert Hofman and Oostra, {Ben A.} and Franco, {Oscar H.} and Leach, {Irene Mateo} and Marian Beekman and {De Craen}, {Anton J M} and Uh, {Hae Won} and Holly Trochet and Hocking, {Lynne J.} and Porteous, {David J.} and Naveed Sattar and Packard, {Chris J.} and Buckley, {Brendan M.} and Brody, {Jennifer A.} and Bis, {Joshua C.} and Rotter, {Jerome I.} and Mychaleckyj, {Josyf C.} and Harry Campbell and Qing Duan and Lange, {Leslie A.} and Wilson, {James F.} and Caroline Hayward and Ozren Polasek and Veronique Vitart and Igor Rudan and Wright, {Alan F.} and Rich, {Stephen S.} and Psaty, {Bruce M.} and Borecki, {Ingrid B.} and Kearney, {Patricia M.} and Stott, {David J.} and Cupples, {L. Adrienne} and Jukema, {J. Wouter} and {Van Der Harst}, Pim and Sijbrands, {Eric J.} and Hottenga, {Jouke Jan} and Uitterlinden, {Andre G.} and Swertz, {Morris A.} and {Van Ommen}, {Gert Jan B} and {De Bakker}, {Paul I W} and {Eline Slagboom}, P. and Boomsma, {Dorret I.} and Cisca Wijmenga and {Van Duijn}, {Cornelia M.} and Neerincx, {Pieter B T} and Elbers, {Clara C.} and Palamara, {Pier Francesco} and Itsik Peer and Abdel Abdellaoui and Kloosterman, {Wigard P.} and {Van Oven}, Mannis and Martijn Vermaat and Mingkun Li and Laros, {Jeroen F J} and Mark Stoneking and {De Knijff}, Peter and Manfred Kayser and Veldink, {Jan H.} and {Van Den Berg}, {Leonard H.} and Heorhiy Byelas and {Den Dunnen}, {Johan T.} and Martijn Dijkstra and Najaf Amin and {Van Der Velde}, {K. Joeri} and {Van Setten}, Jessica and Mathijs Kattenberg and {Van Schaik}, {Barbera D C} and Jan Bot and Nijman, {Isa{\"a}c J.} and Hailiang Mei and Vyacheslav Koval and Kai Ye and Lameijer, {Eric Wubbo} and Moed, {Matthijs H.} and Hehir-Kwa, {Jayne Y.} and Handsaker, {Robert E.} and Sunyaev, {Shamil R.} and Mashaal Sohail and Fereydoun Hormozdiari and Tobias Marschall and Alexander Sch{\"o}nhuth and Victor Guryev and Suchiman, {H. Eka D} and Wolffenbuttel, {Bruce H.} and Mathieu Platteel and Pitts, {Steven J.} and Shobha Potluri and Cox, {David R.} and Qibin Li and Yingrui Li and Yuanping Du and Ruoyan Chen and Hongzhi Cao and Ning Li and Sujie Cao and Jun Wang and Bovenberg, {Jasper A.}",
year = "2015",
doi = "10.1038/ncomms7065",
language = "English",
volume = "6",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "nature publishing group",
}
RIS
TY - JOUR
T1 - Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels
AU - Van Leeuwen, Elisabeth M.
AU - Karssen, Lennart C.
AU - Deelen, Joris
AU - Isaacs, Aaron
AU - Medina-Gomez, Carolina
AU - Mbarek, Hamdi
AU - Kanterakis, Alexandros
AU - Trompet, Stella
AU - Postmus, Iris
AU - Verweij, Niek
AU - Van Enckevort, David J.
AU - Huffman, Jennifer E.
AU - White, Charles C.
AU - Feitosa, Mary F.
AU - Bartz, Traci M.
AU - Manichaikul, Ani
AU - Joshi, Peter K.
AU - Peloso, Gina M.
AU - Deelen, Patrick
AU - Van Dijk, Freerk
AU - Willemsen, Gonneke
AU - De Geus, Eco J.
AU - Milaneschi, Yuri
AU - Penninx, Brenda W J H
AU - Francioli, Laurent C.
AU - Menelaou, Androniki
AU - Pulit, Sara L.
AU - Rivadeneira, Fernando
AU - Hofman, Albert
AU - Oostra, Ben A.
AU - Franco, Oscar H.
AU - Leach, Irene Mateo
AU - Beekman, Marian
AU - De Craen, Anton J M
AU - Uh, Hae Won
AU - Trochet, Holly
AU - Hocking, Lynne J.
AU - Porteous, David J.
AU - Sattar, Naveed
AU - Packard, Chris J.
AU - Buckley, Brendan M.
AU - Brody, Jennifer A.
AU - Bis, Joshua C.
AU - Rotter, Jerome I.
AU - Mychaleckyj, Josyf C.
AU - Campbell, Harry
AU - Duan, Qing
AU - Lange, Leslie A.
AU - Wilson, James F.
AU - Hayward, Caroline
AU - Polasek, Ozren
AU - Vitart, Veronique
AU - Rudan, Igor
AU - Wright, Alan F.
AU - Rich, Stephen S.
AU - Psaty, Bruce M.
AU - Borecki, Ingrid B.
AU - Kearney, Patricia M.
AU - Stott, David J.
AU - Cupples, L. Adrienne
AU - Jukema, J. Wouter
AU - Van Der Harst, Pim
AU - Sijbrands, Eric J.
AU - Hottenga, Jouke Jan
AU - Uitterlinden, Andre G.
AU - Swertz, Morris A.
AU - Van Ommen, Gert Jan B
AU - De Bakker, Paul I W
AU - Eline Slagboom, P.
AU - Boomsma, Dorret I.
AU - Wijmenga, Cisca
AU - Van Duijn, Cornelia M.
AU - Neerincx, Pieter B T
AU - Elbers, Clara C.
AU - Palamara, Pier Francesco
AU - Peer, Itsik
AU - Abdellaoui, Abdel
AU - Kloosterman, Wigard P.
AU - Van Oven, Mannis
AU - Vermaat, Martijn
AU - Li, Mingkun
AU - Laros, Jeroen F J
AU - Stoneking, Mark
AU - De Knijff, Peter
AU - Kayser, Manfred
AU - Veldink, Jan H.
AU - Van Den Berg, Leonard H.
AU - Byelas, Heorhiy
AU - Den Dunnen, Johan T.
AU - Dijkstra, Martijn
AU - Amin, Najaf
AU - Van Der Velde, K. Joeri
AU - Van Setten, Jessica
AU - Kattenberg, Mathijs
AU - Van Schaik, Barbera D C
AU - Bot, Jan
AU - Nijman, Isaäc J.
AU - Mei, Hailiang
AU - Koval, Vyacheslav
AU - Ye, Kai
AU - Lameijer, Eric Wubbo
AU - Moed, Matthijs H.
AU - Hehir-Kwa, Jayne Y.
AU - Handsaker, Robert E.
AU - Sunyaev, Shamil R.
AU - Sohail, Mashaal
AU - Hormozdiari, Fereydoun
AU - Marschall, Tobias
AU - Schönhuth, Alexander
AU - Guryev, Victor
AU - Suchiman, H. Eka D
AU - Wolffenbuttel, Bruce H.
AU - Platteel, Mathieu
AU - Pitts, Steven J.
AU - Potluri, Shobha
AU - Cox, David R.
AU - Li, Qibin
AU - Li, Yingrui
AU - Du, Yuanping
AU - Chen, Ruoyan
AU - Cao, Hongzhi
AU - Li, Ning
AU - Cao, Sujie
AU - Wang, Jun
AU - Bovenberg, Jasper A.
PY - 2015
Y1 - 2015
N2 - Variants associated with blood lipid levels may be population-specific. To identify low-frequency variants associated with this phenotype, population-specific reference panels may be used. Here we impute nine large Dutch biobanks (∼35,000 samples) with the population-specific reference panel created by the Genome of the Netherlands Project and perform association testing with blood lipid levels. We report the discovery of five novel associations at four loci (P value -4), including a rare missense variant in ABCA6 (rs77542162, p.Cys1359Arg, frequency 0.034), which is predicted to be deleterious. The frequency of this ABCA6 variant is 3.65-fold increased in the Dutch and its effect (βLDL-C =0.135, βTC =0.140) is estimated to be very similar to those observed for single variants in well-known lipid genes, such as LDLR.
AB - Variants associated with blood lipid levels may be population-specific. To identify low-frequency variants associated with this phenotype, population-specific reference panels may be used. Here we impute nine large Dutch biobanks (∼35,000 samples) with the population-specific reference panel created by the Genome of the Netherlands Project and perform association testing with blood lipid levels. We report the discovery of five novel associations at four loci (P value -4), including a rare missense variant in ABCA6 (rs77542162, p.Cys1359Arg, frequency 0.034), which is predicted to be deleterious. The frequency of this ABCA6 variant is 3.65-fold increased in the Dutch and its effect (βLDL-C =0.135, βTC =0.140) is estimated to be very similar to those observed for single variants in well-known lipid genes, such as LDLR.
U2 - 10.1038/ncomms7065
DO - 10.1038/ncomms7065
M3 - Journal article
C2 - 25751400
AN - SCOPUS:84924363528
VL - 6
JO - Nature Communications
JF - Nature Communications
SN - 2041-1723
M1 - 6065
ER -
