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Comparative analysis of IL 6 and IL 6 receptor gene polymorphisms in mastocytosis
Author(s) -
Rausz Eszter,
Szilágyi Agnes,
Nedoszytko Boguslaw,
Lange Magdalena,
Niedoszytko Marek,
LautnerCsorba Orsolya,
Falus András,
Aladzsity István,
Kokai Márta,
Valent Peter,
Marschalko Márta,
Hidvégi Bernadett,
Szakonyi József,
Csomor Judit,
Várkonyi Judit
Publication year - 2013
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.12086
Subject(s) - genotype , systemic mastocytosis , gene , immunology , polymorphism (computer science) , biology , genetics , haplotype , interleukin , receptor , medicine , mast cell , cytokine
Summary Mastocytosis is a rare disease with reported high interleukin‐6 ( IL 6) levels influencing disease severity. The present study investigated polymorphisms within the genes that encode IL 6 and its receptor ( IL 6 R ) in relation to mastocytosis development in a case‐control design. Analysis of the IL 6 R 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 IL 6 −174 G / C polymorphism, however, it may influence the effect of IL 6 R polymorphism. To the best of our knowledge this is the first study analysing IL 6/ IL 6 R polymorphisms in mastocytosis.