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Genetische Anfälligkeit für Infektionen

Genetic susceptibility to infections

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Zusammenfassung

Infektionserkrankungen zählen zu den führenden Ursachen für Morbidität und Mortalität weltweit. Die klinische Manifestation von Infektionserkrankungen ist sehr variabel; das Spektrum an Krankheitsverläufen reicht von asymptomatischen Infektionen und leichten Erkrankungen bis hin zu rasch progressiven und tödlichen Verläufen. Eine erbliche Komponente wurde zunächst in Zwillingsstudien gezeigt. Epidemiologische und genetische Studien konnten im Verlauf konkrete Gene und Polymorphismen für die meisten relevanten Infektionserkrankungen identifizieren. Verlässliche genetische Marker, die eine Empfänglichkeit oder Resistenz gegenüber Infektionen, die Krankheitsprogression und das Therapieansprechen prognostizieren, sind notwendig für die Definition von Risikopopulationen und die Therapieplanung. Genetische Untersuchungen können dazu beitragen, Zielstrukturen für neue Therapiestrategien und antimikrobielle Wirkstoffe zu finden. Die vorliegende Arbeit beschreibt den Einfluss genetischer Faktoren für einige wichtige Infektionserkrankungen und gibt Beispiele für eine erfolgreiche Umsetzung genetischer Forschung in die praktische Medizin.

Abstract

Infectious diseases are among the leading causes of morbidity and mortality worldwide. The spectrum of clinical manifestations of infections is highly variable, ranging from asymptomatic infection or mild illness to rapid progression of disease and death. Twin studies first showed an inheritable component of many infections and epidemiological and genetic studies revealed definite gene loci and polymorphisms for most of the clinically relevant infectious diseases. Reliable genetic markers which represent susceptibility or resistance to infections, prognosis of disease and response to treatment are necessary to define risk populations and to plan therapy regimens. Genetic research can also help in identifying target structures for novel therapy strategies and anitimicrobial agents. In this article the genetic background of important infections is reviewed and examples of successful exploitation of genetic findings and translation into practical medicine are given.

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Abb. 1

Abbreviations

ACE:

„angiotensin converting enzyme“

Aids:

„acquired immunodeficiency syndrome“

ATP:

Adenosintriphosphat

CCDC:

„coiled-coil domain containing“

CCL:

„C-C motif ligand chemokine“

CCR:

„C-C chemokine receptor“

CD:

„cluster of differentiation“

CDAC:

„Clostridium difficile associated colitis“

CFH:

„complement factor H“

CTFR:

„cystic fibrosis membrane receptor“

DARC:

„Duffy antigen/receptor for chemokines“

DEFB:

„defensin beta“

EAEC:

enteroaggregative Escherichia coli

ESN:

„exposed sero-negative“

ETEC:

enterotoxische Escherichia coli

FUT:

“α-1,2-Fucosyltransferase“

G6PDH:

Glucose-6-Phosphat-Dehydrogenase

GWAS:

genomweite Assoziationsstudie

HBGA:

„histo-blood group antigens“

HBV:

Hepatitis-B-Virus

HIV:

humanes Immundefizienzvirus

HLA:

„human leukocyte antigen“

IL:

Interleukin

INF:

Interferon

KIR:

„killer cell immunoglobulin-like receptor“

LTNP:

„long term non-progressor“

MBL:

„mannose-binding lectin“

MCP:

„monocyte chemoattractant protein“

MHC:

„major histocompatibility complex“

MIP:

„macrophage inflammatory protein“

Mtb:

Mycobacterium tuberculosis

NF:

„nuclear factor“

NOD:

„nucleotide-binding oligomerization domain“

PARK:

Parkinson-Protein

PTPN:

„protein tyrosine phosphatase, non-receptor“

RANTES:

„regulated upon activation, normal T-cell expressed, and secreted“

RIPK:

„receptor-interacting serine-threonine kinase“

SLC:

„solute carrier“

SVR:

„sustained virological response“

TB:

Tuberkulose

TLR:

„Toll-like“-Rezeptor

TNF:

Tumor-Nekrose-Faktor

TNFSF:

„tumor necrosis factor superfamily“

VDR:

Vitamin-D-Rezeptor

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  1. Klinik für Innere Medizin I, Universitätsklinikum Schleswig-Holstein (UK S-H), Campus Kiel, Arnold-Heller-Str. 3, 24105, Kiel, Deutschland

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Ott, S., Schreiber, S. Genetische Anfälligkeit für Infektionen. Internist 52, 1053–1060 (2011). https://doi.org/10.1007/s00108-011-2858-8

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