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IL1B 基因启动子区域的功能性多态性与多发性骨髓瘤的风险相关。

A functional polymorphism in the promoter region of the IL1B gene is associated with risk of multiple myeloma.

机构信息

Department of Haematology, Roskilde Hospital, Copenhagen University, Roskilde, Denmark.

出版信息

Br J Haematol. 2012 Aug;158(4):515-8. doi: 10.1111/j.1365-2141.2012.09141.x. Epub 2012 Apr 28.

DOI:10.1111/j.1365-2141.2012.09141.x
PMID:22540426
Abstract

The cytokine interleukin-1β (IL1B) is important for anti-tumour immune response. Genetic variation may modify the expression of IL1B and thereby influence the risk of disease. We investigated genetic variations with functional importance in the IL1B and NFKB1 genes in 348 population-based samples of multiple myeloma (MM) and a random sample of 1700 individuals. Carriers of the variant T-allele IL1B C-3737T and carriers of the TGT haplotype were at lower risk of MM [relative risk (RR) 0·58 (95% confidence interval (CI) = 0·41-0·84) and RR 0·59 (95%CI 0·40-0·85), respectively]. No association with risk of MM was found for the NFKB1- 94 ins/del polymorphism.

摘要

细胞因子白细胞介素-1β(IL1B)对于抗肿瘤免疫反应很重要。遗传变异可能会改变 IL1B 的表达,从而影响疾病的风险。我们在 348 个基于人群的多发性骨髓瘤(MM)样本和 1700 名随机个体中研究了 IL1B 和 NFKB1 基因中具有功能重要性的遗传变异。IL1B C-3737T 变体 T 等位基因的携带者和 TGT 单倍型的携带者患 MM 的风险较低[相对风险(RR)分别为 0.58(95%置信区间(CI)为 0.41-0.84)和 0.59(95%CI 为 0.40-0.85)]。NFKB1-94ins/del 多态性与 MM 的发病风险无关。

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