Evidence map›Paper›PMID 19801982›Full record

SynthesisNature genetics2009

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.

Fernando Rivadeneira, Unnur Styrkársdottir, Karol Estrada, Bjarni V Halldórsson, Yi-Hsiang Hsu, J Brent Richards, M Carola Zillikens, Fotini K Kavvoura, Najaf Amin, Yurii S Aulchenko and 26 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Nature genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 405 papers, 14 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
405citing papers in PubMed, 14 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

405 citing papers in PubMed, 14 syntheses or guidelines pooled it.

  1. Large-scale circulating proteome association study (CPAS) meta-analysis identifies circulating proteins and pathways predicting incident hip fractures.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024
    Pooled it
  2. Associations of osteoprotegerin (OPG) TNFRSF11B gene polymorphisms with risk of fractures in older adult populations: meta-analysis of genetic and genome-wide association studies.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2022
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  9. P4 medicine and osteoporosis: a systematic review.Wiener klinische Wochenschrift · 2016
    Pooled it
  10. Association of 3q13.32 variants with hip trochanter and intertrochanter bone mineral density identified by a genome-wide association study.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2016
    Pooled it
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  15. Multidimensional Bone Density Phenotyping Reveals New Insights Into Genetic Regulation of the Pediatric Skeleton.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2018
    Trial
  16. Trial
  17. Genetic Risk Scores Implicated in Adult Bone Fragility Associate With Pediatric Bone Density.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2016
    Trial
  18. Article
  19. Article
  20. Impact of Genetics on Endocrine Manifestations of Cystic Fibrosis.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2026
    Review

345 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

36 authors.

Fernando RivadeneiraDepartment of Internal Medicine, Rotterdam, The Netherlands.
Unnur Styrkársdottir
Karol Estrada
Bjarni V Halldórsson
Yi-Hsiang Hsu
J Brent Richards
M Carola Zillikens
Fotini K Kavvoura
Najaf Amin
Yurii S Aulchenko
L Adrienne Cupples
Panagiotis Deloukas
Serkalem Demissie
Elin Grundberg
Albert Hofman
Augustine Kong
David Karasik
Joyce B van Meurs
Ben Oostra
Tomi Pastinen
Huibert A P Pols
Gunnar Sigurdsson
Nicole Soranzo
Gudmar Thorleifsson
Unnur Thorsteinsdottir
Frances M K Williams
Scott G Wilson
Yanhua Zhou
Stuart H Ralston
Cornelia M van Duijn
Timothy Spector
Douglas P Kiel
Kari Stefansson
John P A Ioannidis
André G Uitterlinden
Genetic Factors for Osteoporosis (GEFOS) Consortium

Funding

RISK FACTORS FOR VERTEBRAL FRACTURE AND BONE LOSSR01AR041398 · NIAMS · RHODE ISLAND HOSPITAL (PROVIDENCE, RI) · PI KIEL, DOUGLAS P. · 1991 to 2025
$16.1M
GENETICS OF BONE STRUCTURAL GEOMETRY: FRAMINGHAM COHORTSR01AR050066 · NIAMS · HEBREW REHABILITATION CENTER FOR AGED · PI KARASIK, DAVID · 2003 to 2006
$2.4M
SLEEP AND ENTRAINMENT OF SCN FUNCTIONR01HL064278 · NHLBI · CASE WESTERN RESERVE UNIVERSITY · PI STROHL, KINGMAN PERKINS · 1999 to 2002
$871k
THE FRAMINGHAM HEART STUDY-N01HC25195-268025195-268025195N01HC025195 · HC · TRUSTEES OF BOSTON UNIVERSITY · PI WOLF, PHILIP A · 2002 to 2006
–
Arthritis Research UKCIHRNHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01-HC-25195NHLBI NIH HHS N02-HL-6-4278NIAMS NIH HHS R01 AR041398NIAMS NIH HHS R01 AR 050066NIAMS NIH HHS R01 AR050066NIA NIH HHS R01 AR/AG41398Wellcome Trust
6 · The paper itself

Abstract

Bone mineral density (BMD) is a heritable complex trait used in the clinical diagnosis of osteoporosis and the assessment of fracture risk. We performed meta-analysis of five genome-wide association studies of femoral neck and lumbar spine BMD in 19,195 subjects of Northern European descent. We identified 20 BMD loci that reached genome-wide significance (GWS; P < 5 x 10(-8)), of which 13 map to regions not previously associated with this trait: 1p31.3 (GPR177), 2p21 (SPTBN1), 3p22 (CTNNB1), 4q21.1 (MEPE), 5q14 (MEF2C), 7p14 (STARD3NL), 7q21.3 (FLJ42280), 11p11.2 (LRP4, ARHGAP1, F2), 11p14.1 (DCDC5), 11p15 (SOX6), 16q24 (FOXL1), 17q21 (HDAC5) and 17q12 (CRHR1). The meta-analysis also confirmed at GWS level seven known BMD loci on 1p36 (ZBTB40), 6q25 (ESR1), 8q24 (TNFRSF11B), 11q13.4 (LRP5), 12q13 (SP7), 13q14 (TNFSF11) and 18q21 (TNFRSF11A). The many SNPs associated with BMD map to genes in signaling pathways with relevance to bone metabolism and highlight the complex genetic architecture that underlies osteoporosis and variation in BMD.

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideBone DensityFemurFractures, BoneGene Expression RegulationGenotypeHumansLumbar VertebraeQuantitative Trait LociRisk FactorsWhite People

Identifiers

PMID19801982
PMCPMC2783489

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.