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PMID: 18391951 Published · ppublish English Journal Article

Many sequence variants affecting diversity of adult human height.

Nature genetics ·Vol. 40 ·No. 5 ·2008-05-00 ·Pages 609-15

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, Jorgensen T, Pedersen O, Aben KK, Witjes JA, Swinkels DW, den Heijer M, Franke B, Verbeek AL, Becker DM, Yanek LR, Becker LC, Tryggvadottir L, Rafnar T, Gulcher J, Kiemeney LA, Kong A, Thorsteinsdottir U, Stefansson K

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.

MeSH Terms
Adult Body Height/genetics Bone Development/genetics DNA-Binding Proteins/genetics Female Gene Frequency Genetic Linkage Genome, Human Humans Male Mitosis/genetics Polymorphism, Single Nucleotide Repressor Proteins/genetics
Chemicals
DNA-Binding Proteins Repressor Proteins ZBTB38 protein, human
Authors & Affiliations
37 authors, click to expand affiliations / ORCID
Gudbjartsson Daniel F
deCODE Genetics, 101 Reykjavik, Iceland. [email protected]
Walters G Bragi
Thorleifsson Gudmar
Stefansson Hreinn
Halldorsson Bjarni V
Zusmanovich Pasha
Sulem Patrick
Thorlacius Steinunn
Gylfason Arnaldur
Steinberg Stacy
Helgadottir Anna
Ingason Andres
Steinthorsdottir Valgerdur
Olafsdottir Elinborg J
Olafsdottir Gudridur H
Jonsson Thorvaldur
Borch-Johnsen Knut
Hansen Torben
Andersen Gitte
Jorgensen Torben
Pedersen Oluf
Aben Katja K
Witjes J Alfred
Swinkels Dorine W
den Heijer Martin
Franke Barbara
Verbeek Andre L M
Becker Diane M
Yanek Lisa R
Becker Lewis C
Tryggvadottir Laufey
Rafnar Thorunn
Gulcher Jeffrey
Kiemeney Lambertus A
Kong Augustine
Thorsteinsdottir Unnur
Stefansson Kari
Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1546-1718
Published
2008-05-00
Epub
2008-00-06
Pages
609-15
Language
English
Region
United States
NLM ID
9216904
Subset
IM
Corrections
CommentIn
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