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

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


Title: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures
Author: Styrkarsdottir, Unnur   orcid.org/0000-0001-8146-8278
Stefánsson, Ólafur A.
Gunnarsdóttir, Kristbjörg
Thorleifsson, Gudmar   orcid.org/0000-0003-4623-9087
Lund, Sigrún Helga   orcid.org/0000-0002-3806-2296
Stefánsdóttir, Lilja
Júlíusson, Kristinn
Ágústsdóttir, Arna B.
Zink, Florian
Halldórsson, Gísli H.
... 42 more authors Show all authors
Date: 2019-05-03
Language: English
Scope: 2054
University/Institute: Háskóli Íslands
University of Iceland
Háskólinn á Akureyri
University of Akureyri
School: Heilbrigðisvísindasvið (HÍ)
School of Health Sciences (UI)
Heilbrigðisvísindasvið (HA)
School of Health Sciences (UA)
School of Engineering and Natural Sciences (UI)
Verkfræði- og náttúruvísindasvið (HÍ)
Department: Læknadeild (HÍ)
Faculty of Medicine (UI)
Series: Nature Communications;10(1)
ISSN: 2041-1723
DOI: 10.1038/s41467-019-09860-0
Subject: Bone; Gene expression analysis; Genome-wide association studies; Osteoarthritis; Beinin; Erfðarannsóknir; Slitgigt
URI: https://hdl.handle.net/20.500.11815/1572

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Citation:

Styrkarsdottir, U., Stefansson, O.A., Gunnarsdottir, K. et al. GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures. Nature Communications 10, 2054 (2019). https://doi.org/10.1038/s41467-019-09860-0

Abstract:

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.

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