Evidence map›Paper›PMID 18555766›Full record

ArticleBone2008

Autosome-wide linkage analysis of hip structural phenotypes in the Old Order Amish.

E A Streeten, T J Beck, J R O'Connell, Evadnie Rampersand, D J McBride, S L Takala, T I Pollin, K Uusi-Rasi, B D Mitchell, A R Shuldiner

Abstract read
In one paragraph

Article in Bone, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 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

7 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Meta-analysis of genome-wide studies identifies WNT16 and ESR1 SNPs associated with bone mineral density in premenopausal women.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2013
    Pooled it
  2. Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2012
    Article
  3. Review
  4. Article
  5. Article
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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

10 authors.

E A StreetenUniversity of Maryland School of Medicine, Department of Medicine, Division of Endocrinology, Diabetes and Nutrition, Baltimore, MD, USA. estreete@medicine.umaryland.edu
T J Beck
J R O'Connell
Evadnie Rampersand
D J McBride
S L Takala
T I Pollin
K Uusi-Rasi
B D Mitchell
A R Shuldiner

Funding

Zonulin Antibodies in Intestinal Permeabilitiy in IDDMM01RR016500 · NCRR · UNIVERSITY OF MARYLAND BALTIMORE · PI OSWALD, LYNN M · 2002 to 2009
$20.2M
ZINC THERAPY FOR SCLERODERMA--PHASE I STUDYM01RR002719 · NCRR · JOHNS HOPKINS UNIVERSITY · PI EARLEY, CHRISTOPHER J · 1986 to 2007
$20.2M
Longevity Genes in Founder PopulationsR01AG018728 · NIA · UNIVERSITY OF MARYLAND BALTIMORE · PI SHULDINER, ALAN R. · 2001 to 2005
$3.8M
GENETICS OF OSTEOPOROSIS IN THE AMISHR01AR046838 · NIAMS · UNIVERSITY OF MARYLAND BALTIMORE · PI SHULDINER, ALAN R. · 2000 to 2004
$2.7M
Joint Determinants of Bone Density and CVD CalcificationR01HL069313 · NHLBI · UNIVERSITY OF MARYLAND BALTIMORE · PI MITCHELL, BRAXTON D · 2001 to 2004
$1.4M
NCRR NIH HHS M01 RR002719NCRR NIH HHS M01 RR016500NCRR NIH HHS M01 RR 02719NCRR NIH HHS M01 RR 16500NHLBI NIH HHS R01 HL069313NHLBI NIH HHS R01-HL69313NIAMS NIH HHS R01 AR046838NIAMS NIH HHS R01-AR46838NIA NIH HHS R01 AG018728NIA NIH HHS R01-AG18728
6 · The paper itself

Abstract

introductionFracture risk is associated with bone mineral density (BMD) and with other indices of bone strength, including hip geometry. While the heritability and associated fracture risk of BMD are well described, less is known about genetic influences of bone geometry. We derived hip structural phenotypes using the Hip Structural Analysis program (HSA) and performed autosome-wide linkage analysis of hip geometric structural phenotypes. MATERIALS AND

methodsThe Amish Family Osteoporosis Study was designed to identify genes affecting bone health. BMD was measured at the hip using dual X-ray absorptiometry (DXA) in 879 participants (mean age+/-SD=49.8+/-16.1 years, range 18-91 years) from large multigenerational families. From DXA scans, we computed structural measures of hip geometry at the femoral neck (NN) and shaft (S) by HSA, including cross-sectional area (CSA), endocortical or inner diameter (ID), outer diameter (OD) buckling ratio (BR) and section modulus (Z). Genotyping of 731 highly polymorphic microsatellite markers (average spacing of 5.4 cM) and autosome-wide multipoint linkage analysis was performed.

resultsThe heritability of HSA-derived hip phenotypes ranged from 40 to 84%. In the group as a whole, autosome-wide linkage analysis suggested evidence of linkage for QTLs related to NN_Z on chromosome 1p36 (LOD=2.36). In subgroup analysis, ten additional suggestive regions of linkage were found on chromosomes 1, 2, 5, 6, 11, 12, 14, 15 and 17, all with LOD>2.3 except for our linkage at 17q11.2-13 for men and women age 50 and under for NN_CSA, which had a lower LOD of 2.16, but confirmed a previous linkage report.

conclusionsWe found HSA-derived measures of hip structure to be highly heritable independent of BMD. No strong evidence of linkage was found for any phenotype. Confirmatory evidence of linkage was found on chromosome 17q11.2-12 for NN_CSA. Modest evidence was found for genes affecting hip structural phenotypes at ten other chromosomal locations.

Indexed as

Fracture HealingGenetic LinkageAdolescentAdultAgedAged, 80 and overBone DensityChromosome MappingFemaleHipHumansMaleMiddle AgedOsteoporosisPhenotype

Identifiers

PMID18555766
PMCPMC2591020

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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.