Comparative analysis of IL6 and IL6 receptor gene polymorphisms in mastocytosis

被引：13

作者：

Rausz, Eszter ^{[1
]}

Szilagyi, Agnes ^{[2
]}

Nedoszytko, Boguslaw ^{[3
]}

Lange, Magdalena ^{[4
]}

Niedoszytko, Marek ^{[4
]}

Lautner-Csorba, Orsolya ^{[5
]}

Falus, Andras ^{[5
]}

Aladzsity, Istvan ^{[2
]}

Kokai, Marta ^{[2
]}

Valent, Peter ^{[6
]}

Marschalko, Marta ^{[7
]}

Hidvegi, Bernadett ^{[7
]}

Szakonyi, Jozsef ^{[7
]}

Csomor, Judit ^{[8
]}

Varkonyi, Judit ^{[2
]}

机构：

[1] Semmelweis Univ, PhD Sch, H-1125 Budapest, Hungary

[2] Semmelweis Univ, Dept Internal Med 3, H-1125 Budapest, Hungary

[3] Med Univ Gdansk, Dept Dermatol, Gdansk, Poland

[4] Med Univ Gdansk, Dept Allergol, Gdansk, Poland

[5] Semmelweis Univ, Dept Genet Cell & Immunobiol, H-1125 Budapest, Hungary

[6] Med Univ Vienna, Div Haematol & Haemostaseol, Dept Internal Med 1, Vienna, Austria

[7] Semmelweis Univ, Dept Dermatol, H-1125 Budapest, Hungary

[8] Semmelweis Univ, Dept Pathol 1, H-1125 Budapest, Hungary

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2013年 / 160卷 / 02期

关键词：

mastocytosis; IL6; IL6R; genetic polymorphism; IL-6; LEVELS; INTERLEUKIN-6;

D O I：

10.1111/bjh.12086

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：216 / 219

页数：4

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