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Genetic interplay between HLA-C and MIR148A in HIV control and Crohn disease

Smita Kulkarni1, Ying Qi, Colm O'hUigin

  • 1Cancer and Inflammation Program, Laboratory of Experimental Immunology and Basic Research Program, Center for Cancer Research Genetics Core, Science Applications International Corporation-Frederick, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21702.

Proceedings of the National Academy of Sciences of the United States of America
|November 20, 2013
PubMed

Insights

Genetic variations in HLA-C influence HIV control by affecting microRNA binding and expression levels. This study demonstrates a direct link between HLA-C expression and disease outcomes, including HIV and Crohn's disease.

Area of Science:

  • Immunogenetics
  • Molecular Biology
  • Human Genetics

Background:

  • The 3' untranslated region (3'UTR) of HLA-C locus variations affect microRNA (miR-148a) binding and cell surface expression.
  • Previous studies suggested an association between HLA-C 3'UTR variants and HIV control, but a direct causal link was unproven.

Purpose of the Study:

  • To investigate the direct effect of HLA-C expression levels on HIV control.
  • To explore the role of MIR148A insertion/deletion polymorphism in regulating HLA-C expression and its association with disease risk.

Main Methods:

  • Analysis of MIR148A insertion/deletion polymorphism and its effect on HLA-C expression.
  • Correlation of genetic variations with HIV control levels.
  • Assessment of disease risk, including Crohn's disease, in relation to HLA-C and miR-148a interactions.

Main Results:

  • A MIR148A polymorphism directly impacts its own expression levels, consequently altering HLA-C down-regulation.
  • The extent of HLA-C down-regulation correlates with the level of HIV control.
  • An intact miR-148a binding site in the HLA-C 3'UTR is necessary for the observed association with HIV control and Crohn's disease risk.

Conclusions:

  • Demonstrates a direct causal effect of HLA-C expression level on HIV control, independent of other HLA loci.
  • Highlights the intricate genetic interactions between microRNAs, HLA loci, and human diseases.
  • Establishes a mechanism linking miR-148a, HLA-C expression, and susceptibility to infectious and autoimmune diseases.

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