Comparative analysis of IL6 and IL6 receptor gene polymorphisms in mastocytosis.
Mastocytosis is a rare disease with reported high interleukin-6 (IL6) levels influencing disease severity. The present study investigated polymorphisms within the genes that encode IL6 and its receptor (IL6R) in relation to mastocytosis development in a case-control design. Analysis of the IL6R Asp358Ala polymorphism showed that carriers of the AA genotype had a 2·5-fold lower risk for mastocytosis than those with the AC or CC genotypes. No association with mastocytosis was found for the IL6-174G/C polymorphism, however, it may influence the effect of IL6R polymorphism. To the best of our knowledge this is the first study analysing IL6/IL6R polymorphisms in mastocytosis.
PhD School, Semmelweis University of Medicine, Budapest, Hungary.
Eszter
E
Rausz
Agnes
A
Szilágyi
Boguslaw
B
Nedoszytko
Magdalena
M
Lange
Marek
M
Niedoszytko
Orsolya
O
Lautner-Csorba
András
A
Falus
István
I
Aladzsity
Márta
M
Kokai
Peter
P
Valent
Márta
M
Marschalko
Bernadett
B
Hidvégi
József
J
Szakonyi
Judit
J
Csomor
Judit
J
Várkonyi
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001317:Austria / Q000453:epidemiology; D016022:Case-Control Studies; D004843:Epistasis, Genetic; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D015850:Interleukin-6 / Q000235:genetics*; D007946:Leukemia, Mast-Cell / Q000235:genetics; D008297:Male; D008415:Mastocytosis / Q000453:epidemiology / Q000235:genetics*; D008875:Middle Aged; D011044:Poland / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide; D019947:Receptors, Interleukin-6 / Q000235:genetics*; D055815:Young Adult
C508600:IL6 protein, human; C508603:IL6R protein, human; D015850:Interleukin-6; D019947:Receptors, Interleukin-6