Evidence map›Paper›PMID 20200953›Full record

ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2010

Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study.

David Karasik, Yi-Hsiang Hsu, Yanhua Zhou, L Adrienne Cupples, Douglas P Kiel, Serkalem Demissie

Open access · bronzeAbstract read
In one paragraph

Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed, 2 pooled it
4.0field-weighted citation impact, top 6% of its field
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

41 citing papers in PubMed, 2 syntheses or guidelines pooled it, 62 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Review
  6. Role of NEL‑like molecule‑1 in osteogenesis/chondrogenesis (Review).International journal of molecular medicine · 2025
    Review
  7. Article
  8. Review
  9. Article
  10. Article
  11. Isolation of NELL 1 Aptamers for Rhabdomyosarcoma Targeting.Bioengineering (Basel, Switzerland) · 2022
    Article
  12. Review
  13. Inactivation of Nell-1 in Chondrocytes Significantly Impedes Appendicular Skeletogenesis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019
    Article
  14. Review
  15. International journal of medical sciences · 2018
    Article
  16. Article
  17. Bone Strength Estimated by Micro-Finite Element Analysis (µFEA) Is Heritable and Shares Genetic Predisposition With Areal BMD: The Framingham Study.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2017
    Article
  18. Article
  19. Heritability and Genetic Correlations for Bone Microarchitecture: The Framingham Study Families.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2017
    Article
  20. Article
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

6 authors at 2 institutions in 1 country.

David KarasikHebrew SeniorLife Institute for Aging Research and Harvard Medical School, Boston, MA 02131, USA. karasik@mail.hrca.harvard.edu
Yi-Hsiang Hsu
Yanhua Zhou
L Adrienne Cupples
Douglas P Kiel
Serkalem Demissie
Boston University · USHarvard University · US

Funding

GENETICS OF BONE STRUCTURAL GEOMETRY: FRAMINGHAM COHORTSR01AR050066 · NIAMS · HEBREW REHABILITATION CENTER FOR AGED · PI KARASIK, DAVID · 2003 to 2006
$2.4M
NEW WAYS TO FIND HUMAN BMD GENES USING MOUSE QTL MAPPINGR21AR053992 · NIAMS · HEBREW REHABILITATION CENTER FOR AGED · PI KARASIK, DAVID · 2007 to 2008
$511k
THE FRAMINGHAM HEART STUDY-N01HC25195-268025195-268025195N01HC025195 · HC · TRUSTEES OF BOSTON UNIVERSITY · PI WOLF, PHILIP A · 2002 to 2006
–
NHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01-HC-25195NIAMS NIH HHS R01 AR050066NIAMS NIH HHS R01-AR050066NIAMS NIH HHS R21 AR053992NIAMS NIH HHS R21-AR053992NIA NIH HHS R01-AR/AG41398
6 · The paper itself

Abstract

Genome-wide association studies offer an unbiased approach to identify new candidate genes for osteoporosis. We examined the Affymetrix 500K + 50K SNP GeneChip marker sets for associations with multiple osteoporosis-related traits at various skeletal sites, including bone mineral density (BMD, hip and spine), heel ultrasound, and hip geometric indices in the Framingham Osteoporosis Study. We evaluated 433,510 single-nucleotide polymorphisms (SNPs) in 2073 women (mean age 65 years), members of two-generational families. Variance components analysis was performed to estimate phenotypic, genetic, and environmental correlations (rho(P), rho(G), and rho(E)) among bone traits. Linear mixed-effects models were used to test associations between SNPs and multivariable-adjusted trait values. We evaluated the proportion of SNPs associated with pairs of the traits at a nominal significance threshold alpha = 0.01. We found substantial correlation between the proportion of associated SNPs and the rho(P) and rho(G) (r = 0.91 and 0.84, respectively) but much lower with rho(E) (r = 0.38). Thus, for example, hip and spine BMD had 6.8% associated SNPs in common, corresponding to rho(P) = 0.55 and rho(G) = 0.66 between them. Fewer SNPs were associated with both BMD and any of the hip geometric traits (eg, femoral neck and shaft width, section moduli, neck shaft angle, and neck length); rho(G) between BMD and geometric traits ranged from -0.24 to +0.40. In conclusion, we examined relationships between osteoporosis-related traits based on genome-wide associations. Most of the similarity between the quantitative bone phenotypes may be attributed to pleiotropic effects of genes. This knowledge may prove helpful in defining the best phenotypes to be used in genetic studies of osteoporosis.

Indexed as

PhenotypeAdultBone DensityFemaleFemur NeckGenome, HumanGenome-Wide Association StudyHipHumansOsteoporosisPolymorphism, Single Nucleotide

Identifiers

PMID20200953
PMCPMC3153998
OpenAlexW2153261224

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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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.