Many sequence variants affecting diversity of adult human height

被引：531

作者：

Gudbjartsson, Daniel F. ^{[1
]}

Walters, G. Bragi ^{[1
]}

Thorleifsson, Gudmar ^{[1
]}

Stefansson, Hreinn ^{[1
]}

Halldorsson, Bjarni V. ^{[1
,2
]}

Zusmanovich, Pasha ^{[1
]}

Sulem, Patrick ^{[1
]}

Thorlacius, Steinunn ^{[1
]}

Gylfason, Arnaldur ^{[1
]}

Steinberg, Stacy ^{[1
]}

Helgadottir, Anna ^{[1
]}

Ingason, Andres ^{[1
]}

Steinthorsdottir, Valgerdur ^{[1
]}

Olafsdottir, Elinborg J. ^{[3
]}

Olafsdottir, Gudridur H. ^{[3
]}

Jonsson, Thorvaldur ^{[4
]}

Borch-Johnsen, Knut ^{[6
]}

Hansen, Torben ^{[5
]}

Andersen, Gitte ^{[5
]}

Jorgensen, Torben ^{[7
]}

Pedersen, Oluf ^{[5
,6
]}

Aben, Katja K. ^{[8
]}

Witjes, J. Alfred ^{[9
]}

Swinkels, Dorine W. ^{[10
]}

den Heijer, Martin ^{[11
]}

Franke, Barbara ^{[12
]}

Verbeek, Andre L. M. ^{[13
]}

Becker, Diane M. ^{[14
]}

Yanek, Lisa R. ^{[14
]}

Becker, Lewis C. ^{[14
]}

Tryggvadottir, Laufey ^{[3
]}

Rafnar, Thorunn ^{[1
]}

Gulcher, Jeffrey ^{[1
]}

Kiemeney, Lambertus A. ^{[8
,9
,13
]}

Kong, Augustine ^{[1
]}

Thorsteinsdottir, Unnur ^{[1
]}

Stefansson, Kari ^{[1
]}

机构：

[1] deCODE, IS-101 Reykjavik, Iceland

[2] Reykjavik Univ, IS-103 Reykjavik, Iceland

[3] Iceland Canc Registry, IS-105 Reykjavik, Iceland

[4] Univ Hosp, Dept Surg, IS-101 Reykjavik, Iceland

[5] Steno Diabet Ctr, DK-2820 Gentofte, Denmark

[6] Univ Aarhus, Fac Hlth Sci, DK-8000 Aarhus, Denmark

[7] Glostrup Univ Hosp, Res Ctr Prevent & Hlth, DK-2600 Glostrup, Denmark

[8] Comprehens Canc Ctr E, NL-6500 HB Nijmegen, Netherlands

[9] Radboud Univ Nijmegen, Dept Urol, NL-6500 HB Nijmegen, Netherlands

[10] Radboud Univ Nijmegen, Dept Clin Chem, NL-6500 HB Nijmegen, Netherlands

[11] Radboud Univ Nijmegen, Dept Endocrinol, NL-6500 HB Nijmegen, Netherlands

[12] Radboud Univ Nijmegen, Dept Genet, NL-6500 HB Nijmegen, Netherlands

[13] Radboud Univ Nijmegen, Dept Epidemiol & Biostat, Med Ctr, NL-6500 HB Nijmegen, Netherlands

[14] Johns Hopkins Sch Med, Johns Hopkins Sibling & Family Heart Study, Baltimore, MD 21205 USA

来源：

NATURE GENETICS | 2008年 / 40卷 / 05期

关键词：

D O I：

10.1038/ng.122

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Adult human height is one of the classical complex human traits(1). 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(2) 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(3-5), and the strongest association was with SNPs in the ZBTB38 gene.

引用

页码：609 / 615

页数：7

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