<scp>HLA</scp> Class <scp>II</scp> Protein Expression Regulation Is Strongly Linked to Cis‐Acting <scp>SNPs</scp>

), respectively. Two SNPs, rs3128927 and rs9277534, were previously reported to associate with HLA-DP protein expression and hepatitis B virus (HBV) recovery/persistence. We show that rs3128928, which resides in the COL11A2P1 pseudogene, associates most significantly with HLA-DP protein expression, whereas the neighbouring rs3128927 associates most significantly with HBV recovery/persistence. Thus, protein expression levels of HLA-DR, DQ and DP appear to be controlled by cis-elements that do not mark specific alleles. This finding may help to distinguish disease associations caused by specific HLA allelic effects vs. protein expression levels.

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Journal
HLA
Published
2026-04-01
DOI
https://doi.org/10.1111/tan.70669
Primary Topic
Diabetes and associated disorders
Type
article
Field-Weighted Citation Impact
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article

HLA Class II Protein Expression Regulation Is Strongly Linked to Cis‐Acting SNPs

Niamh Spence, Jeremy Martinson, Chloe L. Thio, Veron Ramsuran et al.
HLA
Diabetes and associated disorders
article

HLA Class II Protein Expression Regulation Is Strongly Linked to Cis‐Acting SNPs

Niamh Spence, Jeremy Martinson, Chloe L. Thio, Veron Ramsuran, Mathias Viard, Steven M. Wolinsky, James J. Goedert, N. Vince, Mary Carrington, Shehnaz Hussain, Todd T. Brown, W. Keith Hoots, Gregory D. Kirk
article en

Abstract

), respectively. Two SNPs, rs3128927 and rs9277534, were previously reported to associate with HLA-DP protein expression and hepatitis B virus (HBV) recovery/persistence. We show that rs3128928, which resides in the COL11A2P1 pseudogene, associates most significantly with HLA-DP protein expression, whereas the neighbouring rs3128927 associates most significantly with HBV recovery/persistence. Thus, protein expression levels of HLA-DR, DQ and DP appear to be controlled by cis-elements that do not mark specific alleles. This finding may help to distinguish disease associations caused by specific HLA allelic effects vs. protein expression levels.

HLAVol. 107(4)
Northwestern University (US), Johns Hopkins University (US), Inserm (FR), University of Pittsburgh (US), Johns Hopkins Medicine (US), Centre for the AIDS Programme of Research in South Africa (ZA), Ragon Institute of MGH, MIT and Harvard (US), National Heart, Lung, and Blood Institute (US), Frederick National Laboratory for Cancer Research (US), National Cancer Institute (MY), National Cancer Institute (US), Center for Research in Transplantation and Translational Immunology, University of California, Davis (US), University of KwaZulu-Natal (ZA), Nantes Université (FR)
Good health and well-being
Openalex Percentile: Top 28%
Diabetes and associated disorders
DOIOpen Access PDFOpenAlex
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