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Journal article

Rare and low-frequency coding variants alter human adult height

Abstract:

Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1–4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/nature21039

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More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
Publisher:
Nature Publishing Group
Journal:
Nature More from this journal
Volume:
542
Issue:
7640
Pages:
186–190
Publication date:
2017-01-01
Acceptance date:
2016-12-04
DOI:
EISSN:
1476-4687
ISSN:
0028-0836
Pubs id:
pubs:664146
UUID:
uuid:2ea53a97-aa7a-42c8-9993-3cf12f7a2183
Local pid:
pubs:664146
Source identifiers:
664146
Deposit date:
2016-12-05

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