相关实验视频

Updated: Jan 7, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

一种ETS2增强剂变异可能调节基因表达,并有助于定义SLE易感性的遗传风险概况

Andrea Latini¹, Giada De Benedittis², Chiara Morgante²

¹UniCamillus, Saint Camillus International University of Health Sciences, 00131 Rome, Italy.

|December 30, 2025

概括

靠近ETS2基因的遗传变异通过增强基因表达增加了全身性红斑狼 (SLE) 风险. 这一发现将非编码DNA变异与自身免疫性疾病的发展和风险预测联系起来.

科学领域:

遗传学遗传学是一个
免疫学免疫学免疫学
自免疫性疾病自免疫性疾病

背景情况:

系统性红斑狼 (SLE) 是一种复杂的自身免疫性疾病,具有重要的遗传基础.
全基因组关联研究 (GWAS) 已经确定了许多与SLE相关的非编码遗传变异,但它们的功能意义往往不清楚.
单核酸变体 (SNV) rs2836882,位于ETS2原基因附近,已被提出影响免疫调节,但其在SLE易感性中的作用需要阐明.

研究的目的:

调查SNV rs2836882与意大利队列中SLE易感性的关联.
为了确定rs2836882对ETS2基因表达的功能影响.
评估rs2836882对SLE总体遗传负担的贡献.

主要方法:

在246名意大利SLE患者和216名健康对照人群中使用TaqMan测定进行rs2836882的基因型定型.
计算加权遗传风险得分 (wGRS),包括rs2836882和其他已知的SLE变异.
在外围血液单核细胞 (PBMCs) 中通过RT-qPCR和功能分析量化ETS2mRNA表达.

主要成果:

rs2836882风险等位基因与增加的SLE易感性显著相关 (OR = 1.54,p = 0.02).
与对照组相比,SLE患者的wGRS显著更高 (p < 0.00001),表明增加了遗传风险.
在分析显示rs2836882位于一个活跃的增强器区域,并作为ETS2.的表达定量特征位置 (eQTL). 风险等位基因携带者表现出显著更高的ETS2表达 (p = 0.002).

结论:

rs2836882是一种功能调节变体,增加了ETS2转录,并导致SLE易感性.
这项研究确定了非编码GWAS位点与自身免疫性疾病风险之间的机制联系.
这些发现支持功能性非编码变异在自身免疫病原发生的重要性,以及它们在SLE遗传风险模型中的潜在整合.

关键词:

这是ETS2的第二个版本.遗传风险评分遗传风险评分单核酸变异是一种单核酸变异系统性红血性狼 (Systemic Lupus Erythematosus) 是一种全身性狼.

更多相关视频

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

相关概念视频

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Human Genetics

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...