Comparative analysis of IL6 and IL6 receptor gene polymorphisms in mastocytosis

• Published in: British journal of haematology 2013-01, Vol.160 (2), p.216-219
• Main Authors: Rausz, Eszter, Szilágyi, Agnes, Nedoszytko, Boguslaw, Lange, Magdalena, Niedoszytko, Marek, Lautner‐Csorba, Orsolya, Falus, András, Aladzsity, István, Kokai, Márta, Valent, Peter, Marschalko, Márta, Hidvégi, Bernadett, Szakonyi, József, Csomor, Judit, Várkonyi, Judit
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Alleles; Austria - epidemiology; Biological and medical sciences; Case-Control Studies; Epistasis, Genetic; Female; Gene Frequency; genetic polymorphism; Genetic Predisposition to Disease; Genotype; Hematologic and hematopoietic diseases; Humans; Hungary - epidemiology; IL6; IL6R; Interleukin-6 - genetics; Leukemia, Mast-Cell - genetics; Male; mastocytosis; Mastocytosis - epidemiology; Mastocytosis - genetics; Medical sciences; Middle Aged; Poland - epidemiology; Polymorphism, Single Nucleotide; Receptors, Interleukin-6 - genetics; Tumors; Young Adult
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1111/bjh.12086

Summary 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.