Department of Otolaryngology, Head and Neck Surgery, West Virginia University School of Medicine, Morgantown, West Virginia, USA.
Department of Biostatistics, West Virginia University School of Public Health, Morgantown, West Virginia, USA.
Int Arch Allergy Immunol. 2019;180(1):72-78. doi: 10.1159/000499875. Epub 2019 May 28.
Chronic rhinosinusitis (CRS) is a multifaceted disease with a significant genetic component. The importance of taste receptor signaling has recently been highlighted in CRS; single nucleotide polymorphisms (SNPs) of bitter tastant-responsive G-protein-coupled receptors have been linked with CRS and with altered innate immune responses to multiple bacterially derived signals.
To determine in CRS the frequency of six SNPs in genes with known bitter tastant signaling function.
Genomic DNA was isolated from 74 CRS volunteers in West Virginia, and allele frequency was determined and compared with demographically matched data from the 1,000 Genomes database.
For two SNPs in a gene recently associated with bitterant signaling regulation, RGS21, there were no associations with CRS (although the frequency of the minor allele of RGS21, rs7528947, was seen to increase with increasing Lund-Mackay CT staging score). Two TAS2R bitter taste receptor gene variants (TAS2R19 rs10772420 and TAS2R38 rs713598), identified in prior CRS genetics studies, were found to have similar associations in this study.
Unique to our study is the establishment of an association between CRS in this patient population and GNB3 SNP rs5443, a variation in an established G protein component downstream of bitterant receptor signal transduction.
慢性鼻-鼻窦炎(CRS)是一种具有显著遗传成分的多方面疾病。味觉受体信号在 CRS 中的重要性最近得到了强调;苦味味觉响应 G 蛋白偶联受体的单核苷酸多态性(SNPs)与 CRS 以及对多种细菌衍生信号的先天免疫反应改变有关。
确定 CRS 中具有已知苦味味觉信号功能的基因中的六个 SNPs 的频率。
从西弗吉尼亚州的 74 名 CRS 志愿者中分离基因组 DNA,并确定等位基因频率,并与 1000 基因组数据库中匹配的人口统计学数据进行比较。
对于与苦味刺激信号调节最近相关的基因 RGS21 中的两个 SNPs,与 CRS 没有关联(尽管 RGS21 的次要等位基因 rs7528947 的频率随着 Lund-Mackay CT 分期评分的增加而增加)。在先前的 CRS 遗传学研究中鉴定的两个 TAS2R 苦味受体基因变体(TAS2R19 rs10772420 和 TAS2R38 rs713598)在本研究中也发现具有相似的关联。
本研究的独特之处在于在该患者群体中建立了 CRS 与 GNB3 SNP rs5443 之间的关联,这是苦味受体信号转导下游已建立的 G 蛋白成分的一种变异。