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Role of the Human Endogenous Retrovirus HERV-K18 in Autoimmune Disease Susceptibility: Study in the Spanish Population and Meta-Analysis

Author

Listed:
  • Belén de la Hera
  • Jezabel Varadé
  • Marta García-Montojo
  • José Ramón Lamas
  • Ana de la Encarnación
  • Rafael Arroyo
  • Benjamín Fernández-Gutiérrez
  • Roberto Álvarez-Lafuente
  • Elena Urcelay

Abstract

Background: Human endogenous retroviruses (HERVs) are genomic sequences that resulted from ancestral germ-line infections by exogenous retroviruses and therefore are transmitted in a Mendelian fashion. Increased HERV expression and antibodies to HERV antigens have been found in various autoimmune diseases. HERV-K18 in chromosome 1 was previously associated with type one diabetes and multiple sclerosis (MS). The etiology of these complex conditions has not been completely elucidated even after the powerful genome wide association studies (GWAS) performed. Nonetheless, this approach does not scrutinize the repetitive sequences within the genome, and part of the missing heritability could lie behind these sequences. We aimed at evaluating the role of HERV-K18 in chromosome 1 on autoimmune disease susceptibility. Methods: Two HERV-K18 SNPs (97Y/C and 154W/Stop substitutions) conforming three haplotypes were genotyped in Spanish cohorts of multiple sclerosis (n = 942), rheumatoid arthritis (n = 462) and ethnically matched controls (n = 601). Our findings were pooled in a meta-analysis including 5312 autoimmune patients and 4032 controls. Results: Significant associations of both HERV-K18 polymorphisms in chromosome 1 with MS patients stratified by HLA-DRB1*15∶01 were observed [97Y/C p = 0.02; OR (95% CI) = 1.5 (1.04–2.17) and 154W/Stop: p = 0.001; OR (95% CI) = 1.6 (1.19–2.16)]. Combined meta-analysis of the previously published association studies of HERV-K18 with different autoimmune diseases, together with data derived from Spanish cohorts, yielded a significant association of the HERV-K18.3 haplotype [97Y–154W: pM-H = 0.0008; ORM-H (95% CI) = 1.22 (1.09–1.38)]. Conclusion: Association of the HERV-K18.3 haplotype in chromosome 1 with autoimmune-disease susceptibility was confirmed through meta-analysis.

Suggested Citation

  • Belén de la Hera & Jezabel Varadé & Marta García-Montojo & José Ramón Lamas & Ana de la Encarnación & Rafael Arroyo & Benjamín Fernández-Gutiérrez & Roberto Álvarez-Lafuente & Elena Urcelay, 2013. "Role of the Human Endogenous Retrovirus HERV-K18 in Autoimmune Disease Susceptibility: Study in the Spanish Population and Meta-Analysis," PLOS ONE, Public Library of Science, vol. 8(4), pages 1-7, April.
    • Handle: RePEc:plo:pone00:0062090
    DOI: 10.1371/journal.pone.0062090
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    1. Todd S. Macfarlan & Wesley D. Gifford & Shawn Driscoll & Karen Lettieri & Helen M. Rowe & Dario Bonanomi & Amy Firth & Oded Singer & Didier Trono & Samuel L. Pfaff, 2012. "Embryonic stem cell potency fluctuates with endogenous retrovirus activity," Nature, Nature, vol. 487(7405), pages 57-63, July.
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    Cited by:

    1. Elena Morandi & Radu Tanasescu & Rachael E Tarlinton & Cris S Constantinescu & Weiya Zhang & Christopher Tench & Bruno Gran, 2017. "The association between human endogenous retroviruses and multiple sclerosis: A systematic review and meta-analysis," PLOS ONE, Public Library of Science, vol. 12(2), pages 1-18, February.
    2. Belén de la Hera & Jezabel Varadé & Marta García-Montojo & Antonio Alcina & María Fedetz & Iraide Alloza & Ianire Astobiza & Laura Leyva & Oscar Fernández & Guillermo Izquierdo & Alfredo Antigüedad & , 2014. "Human Endogenous Retrovirus HERV-Fc1 Association with Multiple Sclerosis Susceptibility: A Meta-Analysis," PLOS ONE, Public Library of Science, vol. 9(3), pages 1-6, March.

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