Immunoregulatory cytokine polymorphisms in Italian patients affected by paroxysmal nocturnal haemoglobinuria and aplastic anaemia.
We investigated regulatory variants of five cytokine genes [tumour necrosis factor (TNF)-alpha, interferon (IFN)-gamma, transforming growth factor (TGF)-beta, interleukin (IL)-6 and IL-10] in 40 Italian patients affected by paroxysmal nocturnal haemoglobinuria (PNH) and aplastic anaemia (AA). Genotypes associated with high production of TGF-beta and IFN-gamma were more frequent in patients than in controls. Genetic regulation of the immunological pathways involved in the pathogenesis of bone marrow failure is suggested.
Fermo
E
E
Division of Haematology, IRCCS Ospedale Maggiore of Milan, Milan, Italy.
Bianchi
P
P
Barcellini
W
W
Pedotti
P
P
Boschetti
C
C
Alfinito
F
F
Cortelezzi
A
A
Zanella
A
A
D000741:Anemia, Aplastic / Q000235:genetics / Q000378:metabolism*; D016207:Cytokines / Q000235:genetics* / Q000378:metabolism; D005787:Gene Frequency; D005838:Genotype; D006457:Hemoglobinuria, Paroxysmal / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D011110:Polymorphism, Genetic
D016207:Cytokines