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Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. / Albrechtsen, Anders; Grarup, Niels; Li, Y.; Sparsø, Thomas Hempel; Tian, G.; Cao, H.; Jiang, T.; Kim, S.Y.; Korneliussen, Thorfinn Sand; Li, Q.; Nie, C.; Wu, R.; Skotte, Line; Morris, A.P.; Ladenvall, C.; Cauchi, S.; Stancáková, A.; Andersen, G.; Astrup, Arne; Banasik, Karina; Bennett, A.J.; Bolund, Lars; Charpentier, G.; Chen, Y.; Dekker, J.M.; Doney, A.S.F.; Dorkhan, M.; Forsen, T.; Frayling, T.M.; Groves, C.J.; Gui, Y.; Hallmans, G.; Hattersley, A.T.; He, K.; Hitman, G.A.; Holmkvist, J.; Huang, S.; Jiang, H.; Jin, X.; Justesen, Johanne Marie; Kristiansen, Karsten; Kuusisto, J.; Lajer, M.; Lantieri, O.; Li, W.; Liang, H.; Liao, Q.; Liu, X.; Ma, T.; Ma, X.; Manijak, M.P.; Marre, M.; Mokrosinski, Jacek; Morris, A.D.; Mu, B.; Nielsen, A.A.; Nijpels, G.; Nilsson, P.; Palmer, C.N.A.; Rayner, N.W.; Renström, F.; Ribel-Madsen, Rasmus; Robertson, N.; Rolandsson, O.; Rossing, P.; Schwartz, Thue W.; Slagboom, P.E.; Sterner, M.; Tang, M.; Tarnow, L.; Tuomi, T.; Van't Riet, E.; van Leeuwen, N.; Varga, T.V.; Vestmar, Marie Aare; Walker, M.; Wang, B.; Wang, Y.; Wu, H.; Xi, F.; Yengo, L.; Yu, C.; Zhang, X.; Zhang, J.; Zhang, Q.; Zhang, W.; Zheng, H.; Zhou, Y.; Altshuler, D.; 't Hart, L.M.; Franks, P.W.; Balkau, B.; Froguel, P.; McCarthy, M.I.; Laakso, M.; Groop, L.; Christensen, C.; Brandslund, I.; Lauritzen, T.; Witte, D.R.; Linneberg, A.; Jørgensen, Torben; Hansen, Torben; Wang, Jun; Nielsen, Rasmus; Pedersen, Oluf.
I:
Diabetologia, Bind 56, Nr. 2, 2013, s. 298-310.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
Albrechtsen, A, Grarup, N, Li, Y, Sparsø, TH, Tian, G, Cao, H, Jiang, T, Kim, SY
, Korneliussen, TS, Li, Q, Nie, C, Wu, R, Skotte, L, Morris, AP, Ladenvall, C, Cauchi, S, Stancáková, A, Andersen, G, Astrup, A
, Banasik, K, Bennett, AJ, Bolund, L, Charpentier, G, Chen, Y, Dekker, JM, Doney, ASF, Dorkhan, M, Forsen, T, Frayling, TM, Groves, CJ, Gui, Y, Hallmans, G, Hattersley, AT, He, K, Hitman, GA, Holmkvist, J, Huang, S, Jiang, H, Jin, X
, Justesen, JM, Kristiansen, K, Kuusisto, J, Lajer, M, Lantieri, O, Li, W, Liang, H, Liao, Q, Liu, X, Ma, T, Ma, X, Manijak, MP, Marre, M, Mokrosinski, J, Morris, AD, Mu, B, Nielsen, AA, Nijpels, G, Nilsson, P, Palmer, CNA, Rayner, NW, Renström, F, Ribel-Madsen, R, Robertson, N, Rolandsson, O, Rossing, P
, Schwartz, TW, Slagboom, PE, Sterner, M, Tang, M, Tarnow, L, Tuomi, T, Van't Riet, E, van Leeuwen, N
, Varga, TV, Vestmar, MA, Walker, M, Wang, B, Wang, Y, Wu, H, Xi, F, Yengo, L, Yu, C, Zhang, X, Zhang, J, Zhang, Q, Zhang, W, Zheng, H, Zhou, Y, Altshuler, D, 't Hart, LM, Franks, PW, Balkau, B, Froguel, P, McCarthy, MI, Laakso, M, Groop, L, Christensen, C, Brandslund, I, Lauritzen, T, Witte, DR, Linneberg, A, Jørgensen, T
, Hansen, T, Wang, J
, Nielsen, R & Pedersen, O 2013, '
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes',
Diabetologia, bind 56, nr. 2, s. 298-310.
https://doi.org/10.1007/s00125-012-2756-1
APA
Albrechtsen, A., Grarup, N., Li, Y., Sparsø, T. H., Tian, G., Cao, H., Jiang, T., Kim, S. Y.
, Korneliussen, T. S., Li, Q., Nie, C., Wu, R., Skotte, L., Morris, A. P., Ladenvall, C., Cauchi, S., Stancáková, A., Andersen, G., Astrup, A.
, ... Pedersen, O. (2013).
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.
Diabetologia,
56(2), 298-310.
https://doi.org/10.1007/s00125-012-2756-1
Vancouver
Albrechtsen A, Grarup N, Li Y, Sparsø TH, Tian G, Cao H o.a.
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.
Diabetologia. 2013;56(2):298-310.
https://doi.org/10.1007/s00125-012-2756-1
Author
Albrechtsen, Anders ; Grarup, Niels ; Li, Y. ; Sparsø, Thomas Hempel ; Tian, G. ; Cao, H. ; Jiang, T. ; Kim, S.Y. ; Korneliussen, Thorfinn Sand ; Li, Q. ; Nie, C. ; Wu, R. ; Skotte, Line ; Morris, A.P. ; Ladenvall, C. ; Cauchi, S. ; Stancáková, A. ; Andersen, G. ; Astrup, Arne ; Banasik, Karina ; Bennett, A.J. ; Bolund, Lars ; Charpentier, G. ; Chen, Y. ; Dekker, J.M. ; Doney, A.S.F. ; Dorkhan, M. ; Forsen, T. ; Frayling, T.M. ; Groves, C.J. ; Gui, Y. ; Hallmans, G. ; Hattersley, A.T. ; He, K. ; Hitman, G.A. ; Holmkvist, J. ; Huang, S. ; Jiang, H. ; Jin, X. ; Justesen, Johanne Marie ; Kristiansen, Karsten ; Kuusisto, J. ; Lajer, M. ; Lantieri, O. ; Li, W. ; Liang, H. ; Liao, Q. ; Liu, X. ; Ma, T. ; Ma, X. ; Manijak, M.P. ; Marre, M. ; Mokrosinski, Jacek ; Morris, A.D. ; Mu, B. ; Nielsen, A.A. ; Nijpels, G. ; Nilsson, P. ; Palmer, C.N.A. ; Rayner, N.W. ; Renström, F. ; Ribel-Madsen, Rasmus ; Robertson, N. ; Rolandsson, O. ; Rossing, P. ; Schwartz, Thue W. ; Slagboom, P.E. ; Sterner, M. ; Tang, M. ; Tarnow, L. ; Tuomi, T. ; Van't Riet, E. ; van Leeuwen, N. ; Varga, T.V. ; Vestmar, Marie Aare ; Walker, M. ; Wang, B. ; Wang, Y. ; Wu, H. ; Xi, F. ; Yengo, L. ; Yu, C. ; Zhang, X. ; Zhang, J. ; Zhang, Q. ; Zhang, W. ; Zheng, H. ; Zhou, Y. ; Altshuler, D. ; 't Hart, L.M. ; Franks, P.W. ; Balkau, B. ; Froguel, P. ; McCarthy, M.I. ; Laakso, M. ; Groop, L. ; Christensen, C. ; Brandslund, I. ; Lauritzen, T. ; Witte, D.R. ; Linneberg, A. ; Jørgensen, Torben ; Hansen, Torben ; Wang, Jun ; Nielsen, Rasmus ; Pedersen, Oluf. / Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. I: Diabetologia. 2013 ; Bind 56, Nr. 2. s. 298-310.
Bibtex
@article{900595375135465dbc264eb904554ca2,
title = "Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes",
abstract = "AIMS/HYPOTHESIS: Human complex metabolic traits are in part regulated by genetic determinants. Here we applied exome sequencing to identify novel associations of coding polymorphisms at minor allele frequencies (MAFs) >1% with common metabolic phenotypes. METHODS: The study comprised three stages. We performed medium-depth (8×) whole exome sequencing in 1,000 cases with type 2 diabetes, BMI >27.5 kg/m(2) and hypertension and in 1,000 controls (stage 1). We selected 16,192 polymorphisms nominally associated (p¿1%. In stage 2 we identified 51 potential associations with one or more of eight metabolic phenotypes covered by 45 unique polymorphisms. In meta-analyses of stage 2 and stage 3 results, we demonstrated robust associations for coding polymorphisms in CD300LG (fasting HDL-cholesterol: MAF 3.5%, p¿=¿8.5¿×¿10(-14)), COBLL1 (type 2 diabetes: MAF 12.5%, OR 0.88, p¿=¿1.2¿×¿10(-11)) and MACF1 (type 2 diabetes: MAF 23.4%, OR 1.10, p¿=¿8.2¿×¿10(-10)). CONCLUSIONS/INTERPRETATION: We applied exome sequencing as a basis for finding genetic determinants of metabolic traits and show the existence of low-frequency and common coding polymorphisms with impact on common metabolic traits. Based on our study, coding polymorphisms with MAF above 1% do not seem to have particularly high effect sizes on the measured metabolic traits.",
author = "Anders Albrechtsen and Niels Grarup and Y. Li and Spars{\o}, {Thomas Hempel} and G. Tian and H. Cao and T. Jiang and S.Y. Kim and Korneliussen, {Thorfinn Sand} and Q. Li and C. Nie and R. Wu and Line Skotte and A.P. Morris and C. Ladenvall and S. Cauchi and A. Stanc{\'a}kov{\'a} and G. Andersen and Arne Astrup and Karina Banasik and A.J. Bennett and Lars Bolund and G. Charpentier and Y. Chen and J.M. Dekker and A.S.F. Doney and M. Dorkhan and T. Forsen and T.M. Frayling and C.J. Groves and Y. Gui and G. Hallmans and A.T. Hattersley and K. He and G.A. Hitman and J. Holmkvist and S. Huang and H. Jiang and X. Jin and Justesen, {Johanne Marie} and Karsten Kristiansen and J. Kuusisto and M. Lajer and O. Lantieri and W. Li and H. Liang and Q. Liao and X. Liu and T. Ma and X. Ma and M.P. Manijak and M. Marre and Jacek Mokrosinski and A.D. Morris and B. Mu and A.A. Nielsen and G. Nijpels and P. Nilsson and C.N.A. Palmer and N.W. Rayner and F. Renstr{\"o}m and Rasmus Ribel-Madsen and N. Robertson and O. Rolandsson and P. Rossing and Schwartz, {Thue W.} and P.E. Slagboom and M. Sterner and M. Tang and L. Tarnow and T. Tuomi and {Van't Riet}, E. and {van Leeuwen}, N. and T.V. Varga and Vestmar, {Marie Aare} and M. Walker and B. Wang and Y. Wang and H. Wu and F. Xi and L. Yengo and C. Yu and X. Zhang and J. Zhang and Q. Zhang and W. Zhang and H. Zheng and Y. Zhou and D. Altshuler and {'t Hart}, L.M. and P.W. Franks and B. Balkau and P. Froguel and M.I. McCarthy and M. Laakso and L. Groop and C. Christensen and I. Brandslund and T. Lauritzen and D.R. Witte and A. Linneberg and Torben J{\o}rgensen and Torben Hansen and Jun Wang and Rasmus Nielsen and Oluf Pedersen",
note = "CURIS 2013 NEXS 069",
year = "2013",
doi = "10.1007/s00125-012-2756-1",
language = "English",
volume = "56",
pages = "298--310",
journal = "Diabetologia",
issn = "0012-186X",
publisher = "Springer",
number = "2",
}
RIS
TY - JOUR
T1 - Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes
AU - Albrechtsen, Anders
AU - Grarup, Niels
AU - Li, Y.
AU - Sparsø, Thomas Hempel
AU - Tian, G.
AU - Cao, H.
AU - Jiang, T.
AU - Kim, S.Y.
AU - Korneliussen, Thorfinn Sand
AU - Li, Q.
AU - Nie, C.
AU - Wu, R.
AU - Skotte, Line
AU - Morris, A.P.
AU - Ladenvall, C.
AU - Cauchi, S.
AU - Stancáková, A.
AU - Andersen, G.
AU - Astrup, Arne
AU - Banasik, Karina
AU - Bennett, A.J.
AU - Bolund, Lars
AU - Charpentier, G.
AU - Chen, Y.
AU - Dekker, J.M.
AU - Doney, A.S.F.
AU - Dorkhan, M.
AU - Forsen, T.
AU - Frayling, T.M.
AU - Groves, C.J.
AU - Gui, Y.
AU - Hallmans, G.
AU - Hattersley, A.T.
AU - He, K.
AU - Hitman, G.A.
AU - Holmkvist, J.
AU - Huang, S.
AU - Jiang, H.
AU - Jin, X.
AU - Justesen, Johanne Marie
AU - Kristiansen, Karsten
AU - Kuusisto, J.
AU - Lajer, M.
AU - Lantieri, O.
AU - Li, W.
AU - Liang, H.
AU - Liao, Q.
AU - Liu, X.
AU - Ma, T.
AU - Ma, X.
AU - Manijak, M.P.
AU - Marre, M.
AU - Mokrosinski, Jacek
AU - Morris, A.D.
AU - Mu, B.
AU - Nielsen, A.A.
AU - Nijpels, G.
AU - Nilsson, P.
AU - Palmer, C.N.A.
AU - Rayner, N.W.
AU - Renström, F.
AU - Ribel-Madsen, Rasmus
AU - Robertson, N.
AU - Rolandsson, O.
AU - Rossing, P.
AU - Schwartz, Thue W.
AU - Slagboom, P.E.
AU - Sterner, M.
AU - Tang, M.
AU - Tarnow, L.
AU - Tuomi, T.
AU - Van't Riet, E.
AU - van Leeuwen, N.
AU - Varga, T.V.
AU - Vestmar, Marie Aare
AU - Walker, M.
AU - Wang, B.
AU - Wang, Y.
AU - Wu, H.
AU - Xi, F.
AU - Yengo, L.
AU - Yu, C.
AU - Zhang, X.
AU - Zhang, J.
AU - Zhang, Q.
AU - Zhang, W.
AU - Zheng, H.
AU - Zhou, Y.
AU - Altshuler, D.
AU - 't Hart, L.M.
AU - Franks, P.W.
AU - Balkau, B.
AU - Froguel, P.
AU - McCarthy, M.I.
AU - Laakso, M.
AU - Groop, L.
AU - Christensen, C.
AU - Brandslund, I.
AU - Lauritzen, T.
AU - Witte, D.R.
AU - Linneberg, A.
AU - Jørgensen, Torben
AU - Hansen, Torben
AU - Wang, Jun
AU - Nielsen, Rasmus
AU - Pedersen, Oluf
N1 - CURIS 2013 NEXS 069
PY - 2013
Y1 - 2013
N2 - AIMS/HYPOTHESIS: Human complex metabolic traits are in part regulated by genetic determinants. Here we applied exome sequencing to identify novel associations of coding polymorphisms at minor allele frequencies (MAFs) >1% with common metabolic phenotypes. METHODS: The study comprised three stages. We performed medium-depth (8×) whole exome sequencing in 1,000 cases with type 2 diabetes, BMI >27.5 kg/m(2) and hypertension and in 1,000 controls (stage 1). We selected 16,192 polymorphisms nominally associated (p¿1%. In stage 2 we identified 51 potential associations with one or more of eight metabolic phenotypes covered by 45 unique polymorphisms. In meta-analyses of stage 2 and stage 3 results, we demonstrated robust associations for coding polymorphisms in CD300LG (fasting HDL-cholesterol: MAF 3.5%, p¿=¿8.5¿×¿10(-14)), COBLL1 (type 2 diabetes: MAF 12.5%, OR 0.88, p¿=¿1.2¿×¿10(-11)) and MACF1 (type 2 diabetes: MAF 23.4%, OR 1.10, p¿=¿8.2¿×¿10(-10)). CONCLUSIONS/INTERPRETATION: We applied exome sequencing as a basis for finding genetic determinants of metabolic traits and show the existence of low-frequency and common coding polymorphisms with impact on common metabolic traits. Based on our study, coding polymorphisms with MAF above 1% do not seem to have particularly high effect sizes on the measured metabolic traits.
AB - AIMS/HYPOTHESIS: Human complex metabolic traits are in part regulated by genetic determinants. Here we applied exome sequencing to identify novel associations of coding polymorphisms at minor allele frequencies (MAFs) >1% with common metabolic phenotypes. METHODS: The study comprised three stages. We performed medium-depth (8×) whole exome sequencing in 1,000 cases with type 2 diabetes, BMI >27.5 kg/m(2) and hypertension and in 1,000 controls (stage 1). We selected 16,192 polymorphisms nominally associated (p¿1%. In stage 2 we identified 51 potential associations with one or more of eight metabolic phenotypes covered by 45 unique polymorphisms. In meta-analyses of stage 2 and stage 3 results, we demonstrated robust associations for coding polymorphisms in CD300LG (fasting HDL-cholesterol: MAF 3.5%, p¿=¿8.5¿×¿10(-14)), COBLL1 (type 2 diabetes: MAF 12.5%, OR 0.88, p¿=¿1.2¿×¿10(-11)) and MACF1 (type 2 diabetes: MAF 23.4%, OR 1.10, p¿=¿8.2¿×¿10(-10)). CONCLUSIONS/INTERPRETATION: We applied exome sequencing as a basis for finding genetic determinants of metabolic traits and show the existence of low-frequency and common coding polymorphisms with impact on common metabolic traits. Based on our study, coding polymorphisms with MAF above 1% do not seem to have particularly high effect sizes on the measured metabolic traits.
U2 - 10.1007/s00125-012-2756-1
DO - 10.1007/s00125-012-2756-1
M3 - Journal article
C2 - 23160641
VL - 56
SP - 298
EP - 310
JO - Diabetologia
JF - Diabetologia
SN - 0012-186X
IS - 2
ER -
