title: Factor H and CFHR1 polymorphisms associated with atypical Haemolytic Uraemic Syndrome (aHUS) are differently expressed in Tunisian and in Caucasian populations.
abstract: 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.
authors.affiliation: Biochemistry and Molecular Biology Laboratory, Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.
authors.forename: N
authors.initials: N
authors.lastname: Leban
authors.forename: C
authors.initials: C
authors.lastname: Abarrategui-Garrido
authors.forename: E
authors.initials: E
authors.lastname: Fariza-Requejo
authors.forename: C
authors.initials: C
authors.lastname: Amiñoso-Carbonero
authors.forename: S
authors.initials: S
authors.lastname: Pinto
authors.forename: J B
authors.initials: JB
authors.lastname: Chibani
authors.forename: A H
authors.initials: AH
authors.lastname: Khelil
authors.forename: P
authors.initials: P
authors.lastname: Sánchez-Corral
mesh_terms: D000328:Adult; D000483:Alleles; D065766:Atypical Hemolytic Uremic Syndrome; D001798:Blood Proteins / Q000235:genetics; D016022:Case-Control Studies; D003180:Complement C3b Inactivator Proteins / Q000235:genetics*; D017242:Complement Factor H / Q000235:genetics*; D005006:Ethnicity; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D015894:Genome, Human; D006463:Hemolytic-Uremic Syndrome / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D010641:Phenotype; D011110:Polymorphism, Genetic; D015995:Prevalence; D012307:Risk Factors; D014416:Tunisia / Q000208:ethnology; D044465:White People / Q000235:genetics*
chemical_list: D001798:Blood Proteins; C517621:CFHR1 protein, human; C105970:CFHR3 protein, human; D003180:Complement C3b Inactivator Proteins; D017242:Complement Factor H