Regulatory Genome Variants in Human Susceptibility to Infection

Overview

Journal Hum Genet

Specialty Genetics

Date 2019 Dec 7

PMID 31807864

Citations 10

Authors

Amalio Telenti

Julia di Iulio

Affiliations

Soon will be listed here.

Abstract

Genome studies have accelerated the discovery of common and rare genetic variants associated with susceptibility to infection and with disease severity. Genome-wide association studies identified many common genetic variants associated with modest risk for infection. Over 80% of these common variants map to the non-coding genome and are thought to modulate the regulatory networks. Exome sequencing has rapidly expanded the number of recognized primary immunodeficiencies through the identification of rare coding variants. In contrast, less than 29 primary immunodeficiencies have causative rare variation mapped outside protein-coding regions. In the future, whole genome sequencing will accelerate the identification of rare variants of substantial phenotypic impact that disrupt essential regulatory elements and the three-dimensional structure of chromatin.

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