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HLA-C level is regulated by a polymorphic Oct1 binding site in the HLA-C promoter region

Abstract:

Differential HLA-C levels influence several human diseases, but the mechanisms responsible are incompletely characterized. Using a validated prediction algorithm, we imputed HLA-C cell surface levels in 228 individuals from the 1000 Genomes dataset. We tested 68,726 SNPs within the MHC for association with HLA-C level. The HLA-C promoter region variant, rs2395471, 800 bp upstream of the transcription start site, gave the most significant association with HLA-C levels (p = 4.2 × 10(-66)). This...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted manuscript

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Publisher copy:
10.1016/j.ajhg.2016.09.023

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Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
Role:
Author
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Funding agency for:
Naranbhai, V
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Funding agency for:
Naranbhai, V
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Funding agency for:
Fairfax, BP
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Funding agency for:
Knight, J
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Publisher:
Elsevier Publisher's website
Journal:
American Journal of Human Genetics Journal website
Volume:
99
Issue:
6
Pages:
1353-1358
Publication date:
2016-11-03
Acceptance date:
2016-09-29
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
Pubs id:
pubs:658844
URN:
uri:5dd6902e-1d4c-4f12-80ad-132331d69f0d
UUID:
uuid:5dd6902e-1d4c-4f12-80ad-132331d69f0d
Local pid:
pubs:658844
Language:
English
Keywords:

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