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(2014)
Defining the role of common variation in the genomic and biological architecture of adult human height.
Nat Genet, 46 (11).
pp. 1173-1186.
ISSN 1546-1718
https://doi.org/10.1038/ng.3097
SGUL Authors: Strachan, David Peter
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Abstract
Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ∼2,000, ∼3,700 and ∼9,500 SNPs explained ∼21%, ∼24% and ∼29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/β-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.
Item Type: |
Article
|
Additional Information: |
© 2014 Nature America, Inc. All rights reserved. |
Keywords: |
Adult, Analysis of Variance, Body Height, European Continental Ancestry Group, Genetic Variation, Genetics, Population, Genome-Wide Association Study, Humans, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Electronic Medical Records and Genomics (eMEMERGEGE) Consortium, MIGen Consortium, PAGEGE Consortium, LifeLines Cohort Study, Humans, Body Height, Oligonucleotide Array Sequence Analysis, Analysis of Variance, Genetics, Population, Polymorphism, Single Nucleotide, Adult, European Continental Ancestry Group, Genetic Variation, Genome-Wide Association Study, Developmental Biology, 11 Medical And Health Sciences, 06 Biological Sciences |
SGUL Research Institute / Research Centre: |
Academic Structure > Population Health Research Institute (INPH) |
Journal or Publication Title: |
Nat Genet |
ISSN: |
1546-1718 |
Language: |
eng |
Dates: |
Date | Event |
---|
November 2014 | Published | 5 October 2014 | Published Online | 29 August 2014 | Accepted |
|
Publisher License: |
Publisher's own licence |
Projects: |
Project ID | Funder | Funder ID |
---|
R01 DK093757 | NIDDK NIH HHS | UNSPECIFIED | SP/08/002/24118 | British Heart Foundation | UNSPECIFIED | CZB/4/710 | Chief Scientist Office | UNSPECIFIED | CZB/4/672 | Chief Scientist Office | UNSPECIFIED | G0601463 | Medical Research Council | UNSPECIFIED | U01 HG007419 | NHGRI NIH HHS | UNSPECIFIED | G0500070 | Medical Research Council | UNSPECIFIED | R01 HL109946 | NHLBI NIH HHS | UNSPECIFIED | FS/11/35/28871 | British Heart Foundation | UNSPECIFIED | MC_UP_A100_1003 | Medical Research Council | UNSPECIFIED | T32 GM080178 | NIGMS NIH HHS | UNSPECIFIED | P30 CA015704 | NCI NIH HHS | UNSPECIFIED | P01 GM099568 | NIGMS NIH HHS | UNSPECIFIED | 085301 | Wellcome Trust | UNSPECIFIED | RG/08/014/24067 | British Heart Foundation | UNSPECIFIED | R01 DK072193 | NIDDK NIH HHS | UNSPECIFIED | FS/12/33/29561 | British Heart Foundation | UNSPECIFIED | MC_UU_12019/1 | Medical Research Council | UNSPECIFIED | R01 DK075787 | NIDDK NIH HHS | UNSPECIFIED | UL1 TR000124 | NCATS NIH HHS | UNSPECIFIED | MR/L003120/1 | Medical Research Council | UNSPECIFIED | MC_UU_12015/1 | Medical Research Council | UNSPECIFIED | PG/07/085/23349 | British Heart Foundation | UNSPECIFIED | MC_U106179471 | Medical Research Council | UNSPECIFIED | P30 DK063491 | NIDDK NIH HHS | UNSPECIFIED | P30 HD018655 | NICHD NIH HHS | UNSPECIFIED | FS/14/12/30540 | British Heart Foundation | UNSPECIFIED | MC_UU_12015/2 | Medical Research Council | UNSPECIFIED | FS/12/8/29377 | British Heart Foundation | UNSPECIFIED | P30 DK072488 | NIDDK NIH HHS | UNSPECIFIED | MC_U106179472 | Medical Research Council | UNSPECIFIED | G1002084 | Medical Research Council | UNSPECIFIED | 090532 | Wellcome Trust | UNSPECIFIED | 098395 | Wellcome Trust | UNSPECIFIED | U01 DK062370 | NIDDK NIH HHS | UNSPECIFIED | R01 GM075091 | NIGMS NIH HHS | UNSPECIFIED | P30 GM103341 | NIGMS NIH HHS | UNSPECIFIED | MR/K006584/1 | Medical Research Council | UNSPECIFIED | MR/K013351/1 | Medical Research Council | UNSPECIFIED | MC_UU_12015/5 | Medical Research Council | UNSPECIFIED | 323195 | European Research Council | UNSPECIFIED | R01 HL117626 | NHLBI NIH HHS | UNSPECIFIED | 098381 | Wellcome Trust | UNSPECIFIED | T32 HL007055 | NHLBI NIH HHS | UNSPECIFIED | P30 CA071789 | NCI NIH HHS | UNSPECIFIED | MR/L01629X/1 | Medical Research Council | UNSPECIFIED | RG/10/12/28456 | British Heart Foundation | UNSPECIFIED |
|
PubMed ID: |
25282103 |
Web of Science ID: |
WOS:000344131900008 |
![](http://static.pubmed.gov/portal/portal3rc.fcgi/2745237/img/27842) |
Go to PubMed abstract |
URI: |
https://openaccess.sgul.ac.uk/id/eprint/108577 |
Publisher's version: |
https://doi.org/10.1038/ng.3097 |
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