@Article{ecn.2008.0136,
AUTHOR = {Laurianne Giovannoni},
TITLE = {TNFA <i>locus</i> is associated with β°39 thalassemia in Corsica and Sardinia},
JOURNAL = {European Cytokine Network},
VOLUME = {19},
YEAR = {2008},
NUMBER = {4},
PAGES = {196--203},
URL = {http://www.techscience.com/ECN/v19n4/65927},
ISSN = {1952-4005},
ABSTRACT = {Malaria causes more than one million deaths annually, worldwide. Understanding the genetic
defenses against this disease is an important challenge for science. We know that the long-term presence of
endemic malaria has led to a prevalence of the β°39 heterozygous thalassemia mutation in the two islands of
Corsica and Sardinia. The populations of both islands are isolated, which could make it easier to find other
genetic traits selected by disease pressure. We chose to investigate genes implicated in the primary defenses
against <i>Plasmodium falciparum</i>: oxidative metabolism and the immune response. We indeed selected genes coding
for nitric oxide synthase 2 (NOS2 promoter, polymorphisms NOS2(AAAT) I/D and NOS2(CCTTT)n) and
genes coding for tumor necrosis factor-α (TNFA 3’UTR, polymorphisms TNFd(GA)n and TNFe(GA)n). Some
associations of TNFA alleles or haplotypes were found either with or without the β°39 mutation, suggesting a
complex link originally between TNF-α and resistance or susceptibility to infection.},
DOI = {10.1684/ecn.2008.0136}
}