Human genome variability, natural selection and infectious diseases

Matteo Fumagalli, Manuela Sironi

Research output: Contribution to journalArticlepeer-review


The recent availability of large-scale sequencing DNA data allowed researchers to investigate how genomic variation is distributed among populations. While demographic factors explain genome-wide population genetic diversity levels, scans for signatures of natural selection pinpointed several regions under non-neutral evolution. Recent studies found an enrichment of immune-related genes subjected to natural selection, suggesting that pathogens and infectious diseases have imposed a strong selective pressure throughout human history. Pathogen-mediated selection often targeted regulatory sites of genes belonging to the same biological pathway. Results from these studies have the potential to identify mutations that modulate infection susceptibility by integrating a population genomic approach with molecular immunology data and large-scale functional annotations.

Original languageEnglish
Pages (from-to)9-16
Number of pages8
JournalCurrent Opinion in Immunology
Issue number1
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Medicine(all)


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