Factor H and CFHR1 polymorphisms associated with atypical Haemolytic Uraemic Syndrome (aHUS) are differently expressed in Tunisian and in Caucasian populations
| Autor: | N, Leban, C, Abarrategui-Garrido, E, Fariza-Requejo, C, Amiñoso-Carbonero, S, Pinto, J B, Chibani, A H, Khelil, P, Sánchez-Corral |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Polymorphism Genetic Tunisia Genome Human Homozygote Blood Proteins White People Phenotype Risk Factors Case-Control Studies Complement Factor H Hemolytic-Uremic Syndrome Complement C3b Inactivator Proteins Ethnicity Prevalence Humans Genetic Predisposition to Disease Alleles Atypical Hemolytic Uremic Syndrome |
| Zdroj: | International journal of immunogenetics. 39(2) |
| ISSN: | 1744-313X |
| Popis: | 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.-331CT, c.2089AG or c.2881GT 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. |
| Databáze: | OpenAIRE |
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