Comparative analysis of IL6 and IL6 receptor gene polymorphisms in mastocytosis. (18th October 2012)

• Record Type: Journal Article
• 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
• Is Part Of: British journal of haematology. Volume 160:Number 2(2013:Jan.)
• Page Start: 216
• Page End: 219
• Publication Date: 2012-10-18
• Subjects: Hematology -- Periodicals; Blood -- Diseases -- Periodicals; 616.15
• DOI: 10.1111/bjh.12086
• Languages: English
• ISSNs: 0007-1048

Abstract

<abstract abstract-type="main" id="bjh12086-abs-0001"> <title>Summary</title> <p>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 <italic>IL6R</italic> 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 <italic>IL6</italic>−174G/C polymorphism, however, it may influence the effect of <italic>IL6R</italic> polymorphism. To the best of our knowledge this is the first study analysing <italic>IL6/IL6R</italic> polymorphisms in mastocytosis.</p> </abstract>