Many sequence variants affecting diversity of adult human height

Daniel F Gudbjartsson; G Bragi Walters; Gudmar Thorleifsson; Hreinn Stefansson; Bjarni V Halldorsson; Pasha Zusmanovich; Patrick Sulem; Steinunn Thorlacius; Arnaldur Gylfason; Stacy Steinberg; Anna Helgadottir; Andres Ingason; Valgerdur Steinthorsdottir; Elinborg J Olafsdottir; Gudridur H Olafsdottir; Thorvaldur Jonsson; Knut Borch-Johnsen; Torben Hansen; Gitte Andersen; Torben Jørgensen; Oluf Pedersen; Katja K Aben; J Alfred Witjes; Dorine W Swinkels; Martin den Heijer; Barbara Franke; Andre L M Verbeek; Diane M Becker; Lisa R Yanek; Lewis C Becker; Laufey Tryggvadottir; Thorunn Rafnar; Jeffrey Gulcher; Lambertus A Kiemeney; Augustine Kong; Unnur Thorsteinsdottir; Kari Stefansson

doi:10.1038/ng.122

Many sequence variants affecting diversity of adult human height

Daniel F Gudbjartsson, G Bragi Walters, Gudmar Thorleifsson, Hreinn Stefansson, Bjarni V Halldorsson, Pasha Zusmanovich, Patrick Sulem, Steinunn Thorlacius, Arnaldur Gylfason, Stacy Steinberg, Anna Helgadottir, Andres Ingason, Valgerdur Steinthorsdottir, Elinborg J Olafsdottir, Gudridur H Olafsdottir, Thorvaldur Jonsson, Knut Borch-Johnsen, Torben Hansen, Gitte Andersen, Torben JørgensenOluf Pedersen, Katja K Aben, J Alfred Witjes, Dorine W Swinkels, Martin den Heijer, Barbara Franke, Andre L M Verbeek, Diane M Becker, Lisa R Yanek, Lewis C Becker, Laufey Tryggvadottir, Thorunn Rafnar, Jeffrey Gulcher, Lambertus A Kiemeney, Augustine Kong, Unnur Thorsteinsdottir, Kari Stefansson

458 Citations (Scopus)

Abstract

Adult human height is one of the classical complex human traits. We searched for sequence variants that affect height by scanning the genomes of 25,174 Icelanders, 2,876 Dutch, 1,770 European Americans and 1,148 African Americans. We then combined these results with previously published results from the Diabetes Genetics Initiative on 3,024 Scandinavians and tested a selected subset of SNPs in 5,517 Danes. We identified 27 regions of the genome with one or more sequence variants showing significant association with height. The estimated effects per allele of these variants ranged between 0.3 and 0.6 cm and, taken together, they explain around 3.7% of the population variation in height. The genes neighboring the identified loci cluster in biological processes related to skeletal development and mitosis. Association to three previously reported loci are replicated in our analyses, and the strongest association was with SNPs in the ZBTB38 gene.

Original language	English
Journal	Nature Genetics
Volume	40
Issue number	5
Pages (from-to)	609-15
Number of pages	6
ISSN	1061-4036
DOIs	https://doi.org/10.1038/ng.122
Publication status	Published - 2008

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Gudbjartsson, D. F., Walters, G. B., Thorleifsson, G., Stefansson, H., Halldorsson, B. V., Zusmanovich, P., Sulem, P., Thorlacius, S., Gylfason, A., Steinberg, S., Helgadottir, A., Ingason, A., Steinthorsdottir, V., Olafsdottir, E. J., Olafsdottir, G. H., Jonsson, T., Borch-Johnsen, K., Hansen, T., Andersen, G., ... Stefansson, K. (2008). Many sequence variants affecting diversity of adult human height. Nature Genetics, 40(5), 609-15. https://doi.org/10.1038/ng.122

Gudbjartsson, DF, Walters, GB, Thorleifsson, G, Stefansson, H, Halldorsson, BV, Zusmanovich, P, Sulem, P, Thorlacius, S, Gylfason, A, Steinberg, S, Helgadottir, A, Ingason, A, Steinthorsdottir, V, Olafsdottir, EJ, Olafsdottir, GH, Jonsson, T, Borch-Johnsen, K, Hansen, T, Andersen, G, Jørgensen, T, Pedersen, O, Aben, KK, Witjes, JA, Swinkels, DW, den Heijer, M, Franke, B, Verbeek, ALM, Becker, DM, Yanek, LR, Becker, LC, Tryggvadottir, L, Rafnar, T, Gulcher, J, Kiemeney, LA, Kong, A, Thorsteinsdottir, U & Stefansson, K 2008, 'Many sequence variants affecting diversity of adult human height', Nature Genetics, vol. 40, no. 5, pp. 609-15. https://doi.org/10.1038/ng.122

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title = "Many sequence variants affecting diversity of adult human height",

abstract = "Adult human height is one of the classical complex human traits. We searched for sequence variants that affect height by scanning the genomes of 25,174 Icelanders, 2,876 Dutch, 1,770 European Americans and 1,148 African Americans. We then combined these results with previously published results from the Diabetes Genetics Initiative on 3,024 Scandinavians and tested a selected subset of SNPs in 5,517 Danes. We identified 27 regions of the genome with one or more sequence variants showing significant association with height. The estimated effects per allele of these variants ranged between 0.3 and 0.6 cm and, taken together, they explain around 3.7% of the population variation in height. The genes neighboring the identified loci cluster in biological processes related to skeletal development and mitosis. Association to three previously reported loci are replicated in our analyses, and the strongest association was with SNPs in the ZBTB38 gene.",

author = "Gudbjartsson, {Daniel F} and Walters, {G Bragi} and Gudmar Thorleifsson and Hreinn Stefansson and Halldorsson, {Bjarni V} and Pasha Zusmanovich and Patrick Sulem and Steinunn Thorlacius and Arnaldur Gylfason and Stacy Steinberg and Anna Helgadottir and Andres Ingason and Valgerdur Steinthorsdottir and Olafsdottir, {Elinborg J} and Olafsdottir, {Gudridur H} and Thorvaldur Jonsson and Knut Borch-Johnsen and Torben Hansen and Gitte Andersen and Torben J{\o}rgensen and Oluf Pedersen and Aben, {Katja K} and Witjes, {J Alfred} and Swinkels, {Dorine W} and {den Heijer}, Martin and Barbara Franke and Verbeek, {Andre L M} and Becker, {Diane M} and Yanek, {Lisa R} and Becker, {Lewis C} and Laufey Tryggvadottir and Thorunn Rafnar and Jeffrey Gulcher and Kiemeney, {Lambertus A} and Augustine Kong and Unnur Thorsteinsdottir and Kari Stefansson",

note = "Keywords: Adult; Body Height; Bone Development; DNA-Binding Proteins; Female; Gene Frequency; Genome, Human; Humans; Linkage (Genetics); Male; Mitosis; Polymorphism, Single Nucleotide; Repressor Proteins",

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AU - Walters, G Bragi

AU - Thorleifsson, Gudmar

AU - Stefansson, Hreinn

AU - Halldorsson, Bjarni V

AU - Zusmanovich, Pasha

AU - Sulem, Patrick

AU - Thorlacius, Steinunn

AU - Gylfason, Arnaldur

AU - Steinberg, Stacy

AU - Helgadottir, Anna

AU - Ingason, Andres

AU - Steinthorsdottir, Valgerdur

AU - Olafsdottir, Elinborg J

AU - Olafsdottir, Gudridur H

AU - Jonsson, Thorvaldur

AU - Borch-Johnsen, Knut

AU - Hansen, Torben

AU - Andersen, Gitte

AU - Jørgensen, Torben

AU - Pedersen, Oluf

AU - Aben, Katja K

AU - Witjes, J Alfred

AU - Swinkels, Dorine W

AU - den Heijer, Martin

AU - Franke, Barbara

AU - Verbeek, Andre L M

AU - Becker, Diane M

AU - Yanek, Lisa R

AU - Becker, Lewis C

AU - Tryggvadottir, Laufey

AU - Rafnar, Thorunn

AU - Gulcher, Jeffrey

AU - Kiemeney, Lambertus A

AU - Kong, Augustine

AU - Thorsteinsdottir, Unnur

AU - Stefansson, Kari

N1 - Keywords: Adult; Body Height; Bone Development; DNA-Binding Proteins; Female; Gene Frequency; Genome, Human; Humans; Linkage (Genetics); Male; Mitosis; Polymorphism, Single Nucleotide; Repressor Proteins

PY - 2008

Y1 - 2008

N2 - Adult human height is one of the classical complex human traits. We searched for sequence variants that affect height by scanning the genomes of 25,174 Icelanders, 2,876 Dutch, 1,770 European Americans and 1,148 African Americans. We then combined these results with previously published results from the Diabetes Genetics Initiative on 3,024 Scandinavians and tested a selected subset of SNPs in 5,517 Danes. We identified 27 regions of the genome with one or more sequence variants showing significant association with height. The estimated effects per allele of these variants ranged between 0.3 and 0.6 cm and, taken together, they explain around 3.7% of the population variation in height. The genes neighboring the identified loci cluster in biological processes related to skeletal development and mitosis. Association to three previously reported loci are replicated in our analyses, and the strongest association was with SNPs in the ZBTB38 gene.

AB - Adult human height is one of the classical complex human traits. We searched for sequence variants that affect height by scanning the genomes of 25,174 Icelanders, 2,876 Dutch, 1,770 European Americans and 1,148 African Americans. We then combined these results with previously published results from the Diabetes Genetics Initiative on 3,024 Scandinavians and tested a selected subset of SNPs in 5,517 Danes. We identified 27 regions of the genome with one or more sequence variants showing significant association with height. The estimated effects per allele of these variants ranged between 0.3 and 0.6 cm and, taken together, they explain around 3.7% of the population variation in height. The genes neighboring the identified loci cluster in biological processes related to skeletal development and mitosis. Association to three previously reported loci are replicated in our analyses, and the strongest association was with SNPs in the ZBTB38 gene.

U2 - 10.1038/ng.122

DO - 10.1038/ng.122

M3 - Journal article

C2 - 18391951

SN - 1061-4036

VL - 40

SP - 609

EP - 615

JO - Nature: New biology

JF - Nature: New biology

IS - 5

ER -

Many sequence variants affecting diversity of adult human height

Abstract

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