Germline immunoglobulin genes: Disease susceptibility genes hidden in plain sight?

Andrew M. Collins, Gur Yaari, Adrian J. Shepherd, William Lees, Corey T. Watson

Research output: Contribution to journalReview articlepeer-review

22 Scopus citations


Immunoglobulin genes are rarely considered as disease susceptibility genes despite their obvious and central contributions to immune function. This appears to be a consequence of historical views on antibody repertoire formation that no longer stand, and of difficulties that until recently surrounded the documentation of the suite of antibody genes in any individual. If these important genes are to be accessible to GWAS studies, allelic variation within the human population needs to be better documented, and a curated set of genomic variations associated with antibody genes needs to be formulated. Repertoire studies arising from the COVID-19 pandemic provide an opportunity to meet these needs, and may provide insights into the profound variability that is seen in outcomes to this infection.

Original languageEnglish
Pages (from-to)100-108
Number of pages9
JournalCurrent Opinion in Systems Biology
StatePublished - Dec 2020
Externally publishedYes


  • AIRR-Seq
  • Antibody receptor repertoires
  • IGHV
  • Iimmune receptor genes
  • Immunoglobulin
  • Rep-Seq


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