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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Abstract:

Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41588-017-0011-x

Authors


Highland, HM More by this author
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ORCID:
0000-0003-4158-9192
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ORCID:
0000-0002-8903-8712
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Publisher:
Springer Nature Publisher's website
Journal:
Nature Genetics Journal website
Volume:
50
Issue:
1
Pages:
26-41
Publication date:
2017-12-22
Acceptance date:
2017-11-15
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Pubs id:
pubs:812802
URN:
uri:d0395073-4628-410e-9038-b9ec85eeb757
UUID:
uuid:d0395073-4628-410e-9038-b9ec85eeb757
Local pid:
pubs:812802
Paper number:
1
Language:
English

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