A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload

BMC Medical Genetics
Eugénia CruzGraça Porto

Abstract

It has been recently demonstrated that CD8+ T-lymphocyte numbers are genetically transmitted in association with the MHC class I region. The present study was designed with the objective of narrowing the region associated with the setting of CD8+ T-lymphocyte numbers in a population of C282Y homozygous hemochromatosis subjects, in whom a high prevalence of abnormally low CD8+ T-lymphocyte counts has been described. The study includes 43 C282Y homozygous subjects fully characterized both phenotypically and genotypically. Clinical characterization includes measurements of iron parameters at diagnosis (transferrin saturation and serum ferritin), total body iron stores and T-cell immunophenotyping determined by flow cytometry. Genetic characterization includes HLA class I alleles (A, B and C) and four additional microsatellite markers (D6S265, D6S2222, D6S105 and D6S2239) spanning 5 Megabases in the 6p21.3 region. Eighty-two extended C282Y carrying haplotypes were defined. Single-locus analysis revealed that the HLA-A region was associated with CD8+ T-cell numbers. Multivariate analysis showed that the combinations of the most common HLA-A alleles (HLA-A*03, -A*02 and -A*01) were associated with significantly lower numbers of CD8+ ...Continue Reading

References

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Citations

Mar 28, 2008·European Journal of Haematology·K Sigvard OlssonRuma R Chowdhury
Jul 6, 2017·Scandinavian Journal of Clinical and Laboratory Investigation·Ketil ThorstensenKristian Hveem
Oct 11, 2007·European Journal of Haematology·K Sigvard OlssonNorbeth Hansson
Jun 18, 2010·European Journal of Gastroenterology & Hepatology·Marcos V CarneiroAna L Candolo Martinelli
Nov 19, 2010·Immunogenetics·Alice AarninkAntoine Blancher
Dec 7, 2014·Journal of Clinical Immunology·M L MaiaM F Macedo
Aug 30, 2013·Expert Review of Gastroenterology & Hepatology·Pushpjeet Kanwar, Kris V Kowdley

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Methods Mentioned

BETA
genotyping
electrophoresis

Software Mentioned

Statgraphics
Statgraphics Graphics System

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