Many sequence variants affecting diversity of adult human height.
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.
Gudbjartsson
Daniel F
DF
deCODE Genetics, 101 Reykjavik, Iceland. daniel.gudbjartsson@decode.is
Walters
G Bragi
GB
Thorleifsson
Gudmar
G
Stefansson
Hreinn
H
Halldorsson
Bjarni V
BV
Zusmanovich
Pasha
P
Sulem
Patrick
P
Thorlacius
Steinunn
S
Gylfason
Arnaldur
A
Steinberg
Stacy
S
Helgadottir
Anna
A
Ingason
Andres
A
Steinthorsdottir
Valgerdur
V
Olafsdottir
Elinborg J
EJ
Olafsdottir
Gudridur H
GH
Jonsson
Thorvaldur
T
Borch-Johnsen
Knut
K
Hansen
Torben
T
Andersen
Gitte
G
Jorgensen
Torben
T
Pedersen
Oluf
O
Aben
Katja K
KK
Witjes
J Alfred
JA
Swinkels
Dorine W
DW
den Heijer
Martin
M
Franke
Barbara
B
Verbeek
Andre L M
AL
Becker
Diane M
DM
Yanek
Lisa R
LR
Becker
Lewis C
LC
Tryggvadottir
Laufey
L
Rafnar
Thorunn
T
Gulcher
Jeffrey
J
Kiemeney
Lambertus A
LA
Kong
Augustine
A
Thorsteinsdottir
Unnur
U
Stefansson
Kari
K
D000328:Adult; D001827:Body Height / Q000235:genetics*; D001846:Bone Development / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D015894:Genome, Human; D006801:Humans; D008297:Male; D008938:Mitosis / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D012097:Repressor Proteins / Q000235:genetics
D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C508975:ZBTB38 protein, human