2020 年第 5 期 第 15 卷

循环可溶性生长刺激表达基因2蛋白水平与白细胞介素1受体样分子1基因多态性的相关性分析

Correlation of polymorphisms in interleukin 1 receptor-like molecule 1 gene with soluble growth stimulation expressed gene 2 protein concentrations

作者：姜文溪;王媛;王雪;李凤娟;鲁可;裴旺;胡荣;杜杰

英文作者：Jiang Wenxi Wang Yuan Wang Xue Li Fengjuan Lu Ke Pei Wang Hu Rong Du Jie

单位：首都医科大学附属北京安贞医院北京市心肺血管疾病研究所心血管生物研究室100029

英文单位：Cardiovascular Biology Laboratory Beijing Institute of Heart Lung Blood and Vessel Diseases Beijing Anzhen Hospital Capital Medical University Beijing 100029 China

关键词：可溶性生长刺激表达基因2蛋白；白细胞介素1受体样分子1基因；单核苷酸多态性

英文关键词：Solublegrowthstimulationexpressedgene2；Interleukin1receptor-likemolecule1gene；Singlenucleotidepolymorphism

• 摘要：

• 目的 探讨循环可溶性生长刺激表达基因2蛋白(sST2)与白细胞介素1受体样分子1（IL1RL1）基因多态性的关系。方法 利用国际千人基因组项目筛选出完整的IL1RL1基因和标签单核苷酸多态性（SNP），然后提取2016年10月至2017年4月于首都医科大学附属北京安贞医院进行体检的350例受试者的全基因组DNA，聚合酶链反应扩增后，采用MALDI-TOF质谱仪分析，检测结果 使用TYPER 4.0软件获取原始数据及基因分型图。分析sST2水平与IL1RL1基因标签SNP的相关性。结果 所有受试者sST2水平为6.45（4.58，9.38）μg/L。IL1RL1基因共筛选出5个标签SNP，分别为rs12712135、rs1921622、rs11123923、rs3821204、rs4988958，均与sST2水平相关（均P＜0.05）,其中rs12712135位点与sST2水平相关性最显著。调整年龄、性别、体重指数、吸烟、基础疾病后，5个SNP仍与高sST2水平（≥6.45 μg/L）风险独立相关（均P＜0.05）。结论循环sST2水平受IL1RL1基因遗传变异的影响。

• Objective To investigate the correlation between circulating soluble growth stimulation expressed gene 2 protein（sST2）concentration and interleukin 1 receptor-like molecule 1（IL1RL1） gene. Methods Tag single nucleotide polymorphisms (SNPs) in IL1RL1 gene were screened out from the Chinese population of the 1000 Genomes Database. Whole genome DNA was extracted from 350 subjects who underwent physical examination at Beijing Anzhen Hospital, Capital Medical University from October 2016 to April 2017.The polymerase chain reaction（PCR）was amplified by MALDI-TOF mass spectrometry. The results were obtained from the original data and genotyping map by using TYPER 4.0 software. The correlation between sST2 level and SNP of IL1RL1 gene tag was analyzed. Results The level of sST2 in all subjects was 6.45(4.58,9.38)μg/L. Five tag SNPs were included. SNPs(rs12712135，rs1921622，rs11123923，rs3821204 and rs4988958) in the IL1RL1 gene showed significant differences with sST2 concentrations（all P＜0.05）. After adjusting for age, gender, body mass index, smoking, and underlying diseases, SNP was independently associated with the risk of high sST2 levels (≥6.45 μg/L)（all P＜0.05）.  ConclusionGenetic variation in the IL1RL1 gene may influence the sST2 concentrations.