Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes

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Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes

Albrechtsen, A. (author)

Grarup, N. (author)

Li, Y. (author)

Sparso, T. (author)

Tian, G. (author)

Cao, H. (author)

Jiang, T. (author)

Kim, S. Y. (author)

Korneliussen, T. (author)

Li, Q. (author)

Nie, C. (author)

Wu, R. (author)

Skotte, L. (author)

Morris, A. P. (author)

Ladenvall, Claes (author): Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups

Cauchi, S. (author)

Stancakova, A. (author)

Andersen, G. (author)

Astrup, A. (author)

Banasik, K. (author)

Bennett, A. J. (author)

Bolund, L. (author)

Charpentier, G. (author)

Chen, Y. (author)

Dekker, J. M. (author)

Doney, A. S. F. (author)

Dorkhan, Mozhgan (author): Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups

Forsen, T. (author)

Frayling, T. M. (author)

Groves, C. J. (author)

Gui, Y. (author)

Hallmans, Göran (author): Umeå universitet,Näringsforskning,Enheten för biobanksforskning

Hattersley, A. T. (author)

He, K. (author)

Hitman, G. A. (author)

Holmkvist, J. (author)

Huang, S. (author)

Jiang, H. (author)

Jin, X. (author)

Justesen, J. M. (author)

Kristiansen, K. (author)

Kuusisto, J. (author)

Lajer, M. (author)

Lantieri, O. (author)

Li, W. (author)

Liang, H. (author)

Liao, Q. (author)

Liu, X. (author)

Ma, T. (author)

Ma, X. (author)

Manijak, M. P. (author)

Sterner, Maria (author): Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups

Mokrosinski, J. (author)

Morris, A. D. (author)

Mu, B. (author)

Nielsen, A. A. (author)

Nijpels, G. (author)

Nilsson, Peter (author): Lund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups

Palmer, C. N. A. (author)

Rayner, N. W. (author)

Renstrom, F. (author)

Ribel-Madsen, R. (author)

Robertson, N. (author)

Rolandsson, Olov (author): Umeå universitet,Allmänmedicin

Rossing, P. (author)

Schwartz, T. W. (author)

Slagboom, P. E. (author)

Sterner, M. (author)

Tang, M. (author)

Tarnow, L. (author)

Tuomi, T. (author)

van't Riet, E. (author)

van Leeuwen, N. (author)

Varga, T. V. (author)

Vestmar, M. A. (author)

Walker, M. (author)

Wang, B. (author)

Wang, Y. (author)

Wu, H. (author)

Xi, F. (author)

Yengo, L. (author)

Yu, C. (author)

Zhang, X. (author)

Zhang, J. (author)

Zhang, Q. (author)

Zhang, W. (author)

Zheng, H. (author)

Zhou, Y. (author)

Altshuler, D. (author)

't Hart, L. M. (author)

Franks, Paul W. (author): Umeå universitet,Medicin

Balkau, B. (author)

Froguel, P. (author)

McCarthy, M. I. (author)

Laakso, M. (author)

Groop, Leif (author): Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups

Christensen, C. (author)

Brandslund, I. (author)

Lauritzen, T. (author)

Witte, D. R. (author)

Linneberg, A. (author)

Jorgensen, T. (author)

Hansen, T. (author)

Wang, J. (author)

Nielsen, R. (author)

Pedersen, O. (author)

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(creator_code:org_t)

2012-11-19
2013
English.
In: Diabetologia. - : Springer Science and Business Media LLC. - 0012-186X .- 1432-0428. ; 56:2, s. 298-310

Related links:: https://europepmc.or...; show more...; http://dx.doi.org/10...; https://urn.kb.se/re...; https://doi.org/10.1...; https://lup.lub.lu.s...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

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. The study comprised three stages. We performed medium-depth (8x) 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 < 0.05) with case-control status, from four selected annotation categories or from loci reported to associate with metabolic traits. These variants were genotyped in 15,989 Danes to search for association with 12 metabolic phenotypes (stage 2). In stage 3, polymorphisms showing potential associations were genotyped in a further 63,896 Europeans. Exome sequencing identified 70,182 polymorphisms with MAF > 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 x 10(-14)), COBLL1 (type 2 diabetes: MAF 12.5%, OR 0.88, p = 1.2 x 10(-11)) and MACF1 (type 2 diabetes: MAF 23.4%, OR 1.10, p = 8.2 x 10(-10)). 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)

Keyword

Exome sequencing
Genetic epidemiology
Genetics
Lipids
Next-generation sequencing
Obesity
Type 2 diabetes
Exome sequencing
Genetic epidemiology
Genetics
Lipids
Next-generation sequencing
Obesity
Type 2 diabetes

Publication and Content Type

ref (subject category)
art (subject category)

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By the author/editor: Albrechtsen, A.; Grarup, N.; Li, Y.; Sparso, T.; Tian, G.; Cao, H.; show more...; Jiang, T.; Kim, S. Y.; Korneliussen, T.; Li, Q.; Nie, C.; Wu, R.; Skotte, L.; Morris, A. P.; Ladenvall, Claes; Cauchi, S.; Stancakova, A.; Andersen, G.; Astrup, A.; Banasik, K.; Bennett, A. J.; Bolund, L.; Charpentier, G.; Chen, Y.; Dekker, J. M.; Doney, A. S. F.; Dorkhan, Mozhgan; Forsen, T.; Frayling, T. M.; Groves, C. J.; Gui, Y.; Hallmans, Göran; Hattersley, A. T ...; He, K.; Hitman, G. A.; Holmkvist, J.; Huang, S.; Jiang, H.; Jin, X.; Justesen, J. M.; Kristiansen, K.; Kuusisto, J.; Lajer, M.; Lantieri, O.; Li, W.; Liang, H.; Liao, Q.; Liu, X.; Ma, T.; Ma, X.; Manijak, M. P.; Sterner, Maria; Mokrosinski, J.; Morris, A. D.; Mu, B.; Nielsen, A. A.; Nijpels, G.; Nilsson, Peter; Palmer, C. N. A.; Rayner, N. W.; Renstrom, F.; Ribel-Madsen, R.; Robertson, N.; Rolandsson, Olov; Rossing, P.; Schwartz, T. W.; Slagboom, P. E.; Sterner, M.; Tang, M.; Tarnow, L.; Tuomi, T.; van't Riet, E.; van Leeuwen, N.; Varga, T. V.; Vestmar, M. A.; 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, Paul W.; Balkau, B.; Froguel, P.; McCarthy, M. I.; Laakso, M.; Groop, Leif; Christensen, C.; Brandslund, I.; Lauritzen, T.; Witte, D. R.; Linneberg, A.; Jorgensen, T.; Hansen, T.; Wang, J.; Nielsen, R.; Pedersen, O.; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Endocrinology an ...

Articles in the publication: Diabetologia

By the university: Umeå University; Lund University

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