相关实验视频

Updated: Jan 11, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

IBD 风险位 rs1077773 是一种对基碳化合物受体活性的药物基因学eQTL,并调节免疫细胞功能

Ashley C King¹, Kristen Seiler², Kerry Swanson¹

¹Department of Surgery, Division of Pediatric Surgery, Washington University in St. Louis School of Medicine, Saint Louis, MO 63110, USA.

bioRxiv : the preprint server for biology

|November 19, 2025

概括

单个核酸多态 rs1077773 影响亚利碳化合物受体 (AHR) 活性,影响炎症性肠病 (IBD) 的免疫反应. 这一发现可能会为IBD患者提供新的个性化疗法.

科学领域:

遗传学遗传学是一个
免疫学免疫学免疫学
胃肠病学胃肠病学

背景情况:

炎症性肠道疾病 (IBD),包括克罗恩氏病和性结肠炎,涉及慢性胃肠道炎症.
超过200个基因位置与IBD有关,但它们的生理作用通常是未知的.
单核酸多态 rs1077773,位于酸受体 (AHR) 基因附近,是需要功能性研究的基因之一.

研究的目的:

为了研究rs1077773多态化对AHR活动的功能影响.
为了确定rs1077773是否调节与IBD病变发生相关的免疫反应.
探索rs1077773作为个性化IBD治疗的目标的潜力.

主要方法:

患者活检和外围血液样本的基因定型为rs1077773.
培养患者衍生的有机体 (PDO) 和外围血液单细胞衍生的巨细胞 (MDMφs).
用AHR配体对PDO和MDMφ进行治疗,并评估基因表达和细胞因子分泌.

主要成果:

rs1077773作为AHR活动的表达量特征位置 (eQTL).
对于rs1077773具有同胞性的PDOs在AHR激活时显示出增强的CYP1A1表达.
具有另一个rs1077773等位基因的MDMφs表现出17种细胞因子和化学因子的分泌量减少.

结论:

通过AHR,rs1077773多态在体外调节上皮和免疫细胞功能.
了解这个位点在IBD易感性中的作用,可以为个性化治疗策略提供信息.
这项研究强调了AHR信号传递中遗传变异对于肠道平衡和IBD的重要性.

关键词:

克罗恩氏病是什么克罗恩氏病是什么表面上皮质 (epithelium) 是一个层次的表皮.印度 (Indole) 是一种制剂.微生物组是一个微生物组.性结肠炎是一种

更多相关视频

Investigating Target Gene Function in a CD40 Agonistic Antibody-induced Colitis Model using CRISPR/Cas9-based Technologies

Investigating Target Gene Function in a CD40 Agonistic Antibody-induced Colitis Model using CRISPR/Cas9-based Technologies

Published on: June 2, 2021

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

相关概念视频

Drugs for Treatment of Crohn's Disease in IBD Using Biologic Agents: Anti-TNF

Drugs for Treatment of Crohn's Disease in IBD Using Biologic Agents: Anti-TNF

Tumor Necrosis Factor (TNF), a proinflammatory cytokine, contributes significantly to the inflammation seen in Crohn's disease. It exists as soluble TNF and membrane-bound TNF, with actions mediated through TNF receptors (TNFR). TNFR activation leads to the release of proinflammatory cytokines, T-cell activation, collagen production, and leukocyte migration, all contributing to inflammation in Crohn's disease. Anti-TNF monoclonal antibodies, namely infliximab (Remicade), adalimumab...

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...