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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Pathogen-driven selection in the human genome.

Rachele Cagliani¹, Manuela Sironi

¹Bioinformatics, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini (LC), Italy.

International Journal of Evolutionary Biology

|March 28, 2013

Summary

This summary is machine-generated.

Infectious diseases have profoundly shaped human genetic diversity, acting as a major evolutionary selective pressure. Understanding these pathogen-host interactions can reveal genetic factors influencing disease susceptibility and inform new treatments.

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Area of Science:

Evolutionary biology
Human genetics
Pathogen-host interactions

Background:

Infectious diseases have historically been a primary cause of mortality, contributing to approximately 15% of global deaths even today.
The impact of infectious diseases as a selective pressure on human evolution has been increasingly recognized with advances in genetic data and molecular evolution studies.
Pathogen load is identified as a significant factor influencing human genetic diversity, surpassing other environmental selective pressures.

Purpose of the Study:

To assess the pervasive influence of infectious agents on human genetic diversity.
To identify genetic signatures of pathogen-exerted selective pressure across the human genome.
To explore the evolutionary relationships between human hosts and pathogens.

Main Methods:

Analysis of large-scale genetic data.
Application of novel methods in molecular evolution studies.
Identification of selection signatures at various human genetic loci.

Main Results:

Evidence indicates that pathogen load has been the strongest selective pressure shaping human evolution.
Selection signatures are observable not only in immune-related genes like the major histocompatibility complex but also in other human genes.
Pathogen-driven selection has pervasively influenced human genetic diversity.

Conclusions:

Infectious diseases have played a critical role in human evolution, leaving detectable genetic footprints.
Future research using high-throughput technologies and diverse population data will enhance understanding of host-pathogen co-evolution.
Identifying genetic determinants of infectious disease susceptibility holds promise for developing novel therapeutic strategies.