Evidence map›Paper›PMID 20466785›Full record

ArticleThe Journal of clinical endocrinology and metabolism2010

Runs of homozygosity identify a recessive locus 12q21.31 for human adult height.

Tie-Lin Yang, Yan Guo, Li-Shu Zhang, Qing Tian, Han Yan, Christopher J Papasian, Robert R Recker, Hong-Wen Deng

Abstract read
In one paragraph

Article in The Journal of clinical endocrinology and metabolism, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
–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

24 citing papers in PubMed.

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  16. Genome-wide Survey of Runs of Homozygosity Identifies Recessive Loci for Bone Mineral Density in Caucasian and Chinese Populations.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2015
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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

8 authors.

Tie-Lin YangKey Laboratory of Biomedical Information Engineering, Ministry of Education and Institute of Molecular Genetics, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an 710049, People's Republic of China.
Yan Guo
Li-Shu Zhang
Qing Tian
Han Yan
Christopher J Papasian
Robert R Recker
Hong-Wen Deng

Funding

Proteome-wide Expression Study of Osteogenic CellsP50AR055081 · NIAMS · UNIVERSITY OF MISSOURI KANSAS CITY · PI DENG, HONG-WEN · 2007 to 2012
$5.0M
ROBUST AND POWERFUL TEST OF CANDIDATE GENES TO BONE MASSR01AR050496 · NIAMS · UNIVERSITY OF MISSOURI KANSAS CITY · PI DENG, HONG-WEN · 2004 to 2013
$3.8M
Identification of Proteins Important for Male OsteoporosisR01AR057049 · NIAMS · UNIVERSITY OF MISSOURI KANSAS CITY · PI DENG, HONG-WEN · 2009 to 2013
$2.4M
Genomic search for bone mass QTLsR01AG026564 · NIA · UNIVERSITY OF MISSOURI KANSAS CITY · PI DENG, HONG-WEN · 2007 to 2010
$2.3M
Proteomics Study of Peripheral Blood Monocytes on OsteroporsisR21AG027110 · NIA · UNIVERSITY OF MISSOURI KANSAS CITY · PI DENG, HONG-WEN · 2006 to 2007
$367k
Alcohol Dependence Genetics in a Large Chinese PedigreeR21AA015973 · NIAAA · YALE UNIVERSITY · PI GELERNTER, JOEL · 2007 to 2008
$345k
NIAAA NIH HHS R21 AA015973NIAMS NIH HHS P50 AR055081NIAMS NIH HHS R01 AR050496NIAMS NIH HHS R01 AR057049NIA NIH HHS R01 AG026564NIA NIH HHS R21 AG027110
6 · The paper itself

Abstract

backgroundRuns of homozygosity (ROHs) have recently been proposed to have potential recessive significance for complex traits. Human adult height is a classic complex trait with heritability estimated up to 90%, and recessive loci that contribute to adult height variation have been identified.

methodsUsing the Affymetrix 500K array set, we performed a genome-wide ROHs analysis to identify genetic loci for adult height in a discovery sample including 998 unrelated Caucasian subjects from the midwest United States. For the significant ROHs identified, we replicated these findings in a family-based sample of 8385 Caucasian subjects from the Framingham Heart Study (FHS).

resultsOur results revealed one ROH, located in 12q21.31, that had a strong association with adult height variation both in the discovery (P=6.69x10(-6)) and replication samples (P=5.40x10(-5)). We further validated the presence of this ROH using the HapMap sample.

conclusionOur findings open a new avenue for identifying loci with recessive contributions to adult height variation. Further molecular and functional studies are needed to explore and clarify the potential mechanism.

Indexed as

AdultAgedAged, 80 and overBody HeightChromosomes, Human, Pair 12Genome, HumanGenome-Wide Association StudyHaplotypesHomozygoteHumansMaleMiddle AgedPolymorphism, Single NucleotideWhite People

Identifiers

PMID20466785
PMCPMC2913044

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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.