van Minkelen Rick, de Visser Marieke C H, Houwing-Duistermaat Jeanine J, Vos Hans L, Bertina Rogier M, Rosendaal Frits R
Hemostasis and Thrombosis Research Center, Department of Hematology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
Arterioscler Thromb Vasc Biol. 2007 Jun;27(6):1486-91. doi: 10.1161/ATVBAHA.107.140384. Epub 2007 Apr 5.
It has been suggested that the overall effect of the major proinflammatory cytokine interleukin-1 (IL-1) on coagulation and fibrinolysis is prothrombotic. The aim of this study was to investigate whether common variations in IL1B, IL1RN, IL1R1, and IL1R2 influence the risk of venous thrombosis.
In a case-control study on the causes of deep venous thrombosis, the Leiden Thrombophilia Study (LETS), we genotyped 18 single nucleotide polymorphisms (SNPs) in IL1B, IL1RN, IL1R1, and IL1R2, enabling us to tag a total of 25 haplotype groups. Overall testing of the haplotype frequency distribution in patients and controls indicated that a recessive effect was present in IL1RN (P=0.031). Subsequently the risk of venous thrombosis was calculated for each haplotype of IL1RN. Increased thrombotic risk was found for homozygous carriers of haplotype 5 (H5, tagged by SNP 13888T/G, rs2232354) of IL1RN (Odds ratio=3.9; 95% confidence interval: 1.6 to 9.7; P=0.002). No risk was associated with haplotype 3 of IL1RN, which contains the frequently examined allele 2 variant of the intron 2 VNTR.
We found that IL1RN-H5H5 carriership increases the risk of venous thrombosis.
有研究表明，主要促炎细胞因子白细胞介素-1（IL-1）对凝血和纤溶的总体作用是促血栓形成的。本研究旨在调查IL1B、IL1RN、IL1R1和IL1R2的常见变异是否会影响静脉血栓形成的风险。
在一项关于深静脉血栓形成原因的病例对照研究——莱顿血栓形成倾向研究（LETS）中，我们对IL1B、IL1RN、IL1R1和IL1R2中的18个单核苷酸多态性（SNP）进行了基因分型，从而能够标记总共25个单倍型组。对患者和对照组单倍型频率分布的总体检测表明，IL1RN存在隐性效应（P=0.031）。随后计算了IL1RN每个单倍型的静脉血栓形成风险。发现IL1RN单倍型5（H5，由SNP 13888T/G，rs2232354标记）的纯合携带者血栓形成风险增加（优势比=3.9；95%置信区间：1.6至9.7；P=0.002）。IL1RN的单倍型3与风险无关，该单倍型包含内含子2 VNTR中经常检测的等位基因2变体。
我们发现携带IL1RN-H5H5会增加静脉血栓形成的风险。
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