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GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.

Styrkarsdottir U, Stefansson OA, Gunnarsdottir K et al.

31053729 PubMed ID
GWAS Study Type
44688 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

SU
Styrkarsdottir U
SO
Stefansson OA
GK
Gunnarsdottir K
TG
Thorleifsson G
LS
Lund SH
SL
Stefansdottir L
JK
Juliusson K
AA
Agustsdottir AB
ZF
Zink F
HG
Halldorsson GH
IE
Ivarsdottir EV
BS
Benonisdottir S
JH
Jonsson H
GA
Gylfason A
NK
Norland K
TK
Trajanoska K
BC
Boer CG
SL
Southam L
LJ
Leung JCS
TN
Tang NLS
KT
Kwok TCY
LJ
Lee JSW
HS
Ho SC
BI
Byrjalsen I
CJ
Center JR
LS
Lee SH
KJ
Koh JM
LL
Lohmander LS
HL
Ho-Pham LT
NT
Nguyen TV
EJ
Eisman JA
WJ
Woo J
LP
Leung PC
LJ
Loughlin J
ZE
Zeggini E
CC
Christiansen C
RF
Rivadeneira F
VM
van Meurs J
UA
Uitterlinden AG
MB
Mogensen B
JH
Jonsson H
IT
Ingvarsson T
SG
Sigurdsson G
BR
Benediktsson R
SP
Sulem P
JI
Jonsdottir I
MG
Masson G
HH
Holm H
NG
Norddahl GL
TU
Thorsteinsdottir U
GD
Gudbjartsson DF
SK
Stefansson K
Chapter II

Abstract

Summary of the research findings

Bone area is one measure of bone size that is easily derived from dual-energy X-ray absorptiometry (DXA) scans. In a GWA study of DXA bone area of the hip and lumbar spine (N ≥ 28,954), we find thirteen independent association signals at twelve loci that replicate in samples of European and East Asian descent (N = 13,608 - 21,277). Eight DXA area loci associate with osteoarthritis, including rs143384 in GDF5 and a missense variant in COL11A1 (rs3753841). The strongest DXA area association is with rs11614913[T] in the microRNA MIR196A2 gene that associates with lumbar spine area (P = 2.3 × 10-42, β = -0.090) and confers risk of hip fracture (P = 1.0 × 10-8, OR = 1.11). We demonstrate that the risk allele is less efficient in repressing miR-196a-5p target genes. We also show that the DXA area measure contributes to the risk of hip fracture independent of bone density.

28,954 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

44688
Total Participants
GWAS
Study Type
Yes
Replicated
9,383 European ancestry individuals, 6,351 East Asian ancestry individuals
Replication Participants
European, East Asian
Ancestry
Australia, Netherlands, Denmark, Iceland, China, Hong Kong SAR, Republic of Korea, Viet Nam, U.K.
Recruitment Country
Chapter IV

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