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Journal of Transmitted Diseases and Immunity
ISSN: 2573-0320
Volume 4
May 10-11, 2018
Frankfurt, Germany
Immunology Research 2018
Tissue Science 2018
Page 25
JOINT EVENT
2 2 n d E d i t i o n o f I n t e r n a t i o n a l C o n f e r e n c e o n
Immunology and
Evolution of Infectious Diseases
&
1 2 t h E d i t i o n o f I n t e r n a t i o n a l C o n f e r e n c e o n
Tissue Engineering and
Regenerative Medicine
T he contribution of host genetic factors to resistance or
susceptibility to Plasmodium falciparum malaria has been
widely studied. Nevertheless, a few genome scans have
been performed, and few of them led to the discovery of loci
significant at the genome level and to the identification of
functional variants potentially causal. Here we describe loci
genetically linked to malaria phenotype at the genome level and
genetic variants located within those loci and associated with
malaria phenotype in two independent populations. Furthermore,
we provide evidence of a cis-regulatory effect of the genetic
variants, suggesting that those variants are causal. We mainly
focus on genes and genetic variants located within chromosome
6p21, which has been linked to mild malaria. These include TNF
and NCR3, which encode a major actor of inflammation and a
receptor of natural killer cells involved the cytotoxicity function,
respectively. Also, the results are in line with those supporting
the role of TNF in malaria on the one hand and allow us to
propose a new biological model to explain the association of a
cis-regulatory variant of NCR3 with mild malaria, on the other
hand. Also, the genetic variation that alters the activation of
natural killer cells may influence human malaria resistance.
Biography
Pascal Rihet has a long lasting experience of research in the field of ge-
netics and genomics of infectious diseases. He has mapped malaria and
sepsis predisposing genes by using genetic linkage or association ap-
proaches. Furthermore, he has identified many variants associated with
the disease; most of those genetic variants are located within noncoding
regions. He has provided evidence that several variants have a cis-regula-
tory effect, suggesting that the regulation of gene expression is critical for
the pathogenesis. In this way, he has investigated gene expression profiles
in patients or in mouse models, and identified a number of genes whose
expression is up- or down-regulated before or at the onset of the disease.
He was the Deputy Director of the TAGC laboratory. Currently he is the Di-
rector of TAGC laboratory. The research scope of the laboratory is Genetics,
Genomics and Bioinformatics. He is a Professor of Genomics and Immu-
nology at AMU.
From genome scans to the identification of
functional genetic variants associated with
malaria resistance
Pascal Rihet
TAGC - Inserm and Aix-Marseille University, France
Pascal Rihet, J Transm Dis Immun 2018, Volume 2
DOI: 10.21767/2573-0320-C2-004