Journal article
HLA-C level is regulated by a polymorphic Oct1 binding site in the HLA-C promoter region
- Abstract:
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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
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- Files:
-
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(Accepted manuscript, zip, 3.7MB)
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(Accepted manuscript, pdf, 107.3KB)
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- Publisher copy:
- 10.1016/j.ajhg.2016.09.023
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Authors
Funding
Bibliographic Details
- 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:
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1537-6605
- ISSN:
-
0002-9297
- Source identifiers:
-
658844
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:658844
- UUID:
-
uuid:5dd6902e-1d4c-4f12-80ad-132331d69f0d
- Local pid:
- pubs:658844
- Deposit date:
- 2016-12-06
Terms of use
- Copyright holder:
- © 2016 American Society of Human Genetics
- Copyright date:
- 2016
- Notes:
- This is the author accepted manuscript following peer review version of the article. The final version is available online from Elsevier at: 10.1016/j.ajhg.2016.09.023
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