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Factor H and CFHR1 polymorphisms associated with atypical Haemolytic Uraemic Syndrome (aHUS) are differently expressed in Tunisian and in Caucasian populations
Author(s) -
Leban N.,
AbarrateguiGarrido C.,
FarizaRequejo E.,
AmiñosoCarbonero C.,
Pinto S.,
Chibani J. B.,
Khelil A. H.,
SánchezCorral P.
Publication year - 2012
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.2011.01071.x
Subject(s) - allele , biology , haemolytic uraemic syndrome , allele frequency , atypical hemolytic uremic syndrome , immunology , complement factor b , genetics , complement system , gene , antibody , escherichia coli
Summary Several polymorphisms in the complement components factor H and CFHR1 are associated with higher risk to develop atypical Haemolytic Uraemic Syndrome (aHUS) in Caucasians. We have determined the prevalence of these polymorphisms in Tunisian controls by using genetic and immunological techniques. No differences in the frequency of the factor H risk alleles c.−331C>T, c.2089A>G or c.2881G>T between Tunisian and Caucasians were found. On the contrary, the analysis of CFHR1 polymorphism revealed a higher frequency of Tunisian individuals homozygous for the CFHR1 * Del (deleted) allele, and of individuals presenting the CFHR1*A phenotype. These results suggest distinct contributions of factor H and CFHR1 polymorphisms to aHUS in Tunisian and Caucasian populations.