Jeruzal-Świątecka Joanna, Borkowska Edyta Marta, Borkowska Martyna, Pietruszewska Wioletta
Department of Otolaryngology, Head and Neck Oncology, Medical University of Lodz, al. Tadeusza Kościuszki 4, 90-419 Lodz, Poland.
Department of Clinical Genetics, Medical University of Lodz, 90-419 Lodz, Poland.
Biomedicines. 2024 Jan 12;12(1):168. doi: 10.3390/biomedicines12010168.
Chronic rhinosinusitis (CRS) affects 5-12% of the general population, and the most challenging patients are those with nasal polyposis (CRSwNP). Its complexity, unpredictability, and difficulties in selecting a treatment plan individually for each patient prompted scientists to look for possible genetic causes of this disease. It was proven that single nucleotide polymorphisms (SNPs) in the gene may affect the mobility and the activity of the ciliated epithelium of the upper respiratory tract what can contribute to individual differences in susceptibility to CRS. There are two common haplotypes: a "protective" type (PAV), and a "non-protective" type (AVI). CRS patients who are homozygous PAV/PAV are considered as less susceptible to the severe course of the disease, whereas patients with AVI/AVI haplotype are more vulnerable. The aim of this study was to examine gene polymorphisms among CRSwNP patients and control group (N = 544) with the evaluation of the association between the distribution of studied polymorphic variants and the incidence as well as severity of CRSwNP in the study group. Whole blood samples from CRSwNP patients (N = 106) and the control group (N = 438) were analyzed for alleles of the gene using real-time PCR single nucleotide polymorphism genotyping assays for rs713598, rs1726866, and rs10246939. PAV (SG: 41%; CG: 49%) and AVI (SG: 59%; CG: 51%) haplotypes were the only ones detected in the study. The AVI haplotypes were 1.5 times more frequent in the study group than in the control group ( = 0.0204; OR = 1.43). AVI/AVI individuals tended to have more severe symptoms in the VAS scale, less QoL in the SNOT-22 test, and a bigger nasal obstruction upon endoscopic examination. Patients with PAV/PAV were twice more likely to have minor changes in preoperative CT scans ( = 0.0158; OR = 2.1; Fi = 0.24). Our study confirmed that the PAV/PAV diplotype might have some protective properties and carrying the AVI haplotype might predispose to the development of CRSwNP.
慢性鼻-鼻窦炎(CRS)影响着5%-12%的普通人群,而最具挑战性的患者是那些患有鼻息肉的(CRSwNP)患者。其复杂性、不可预测性以及为每个患者单独选择治疗方案的困难促使科学家们寻找这种疾病可能的遗传原因。已证实该基因中的单核苷酸多态性(SNP)可能影响上呼吸道纤毛上皮的运动性和活性,这可能导致个体对CRS易感性的差异。有两种常见的单倍型:一种“保护性”类型(PAV)和一种“非保护性”类型(AVI)。纯合PAV/PAV的CRS患者被认为对疾病的严重病程较不易感,而具有AVI/AVI单倍型的患者则更容易患病。本研究的目的是检测CRSwNP患者和对照组(N = 544)中的该基因多态性,评估所研究的多态性变体的分布与研究组中CRSwNP的发病率及严重程度之间的关联。使用针对rs713598、rs1726866和rs10246939的实时PCR单核苷酸多态性基因分型检测方法,对CRSwNP患者(N = 106)和对照组(N = 438)的全血样本进行该基因等位基因分析。PAV(研究组:41%;对照组:49%)和AVI(研究组:59%;对照组:51%)单倍型是研究中仅检测到的单倍型。研究组中AVI单倍型的频率比对照组高1.5倍(P = 0.0204;OR = 1.43)。AVI/AVI个体在视觉模拟量表(VAS)上往往有更严重的症状,在鼻窦结局测试-22(SNOT-22)中生活质量更低,在内镜检查时鼻塞更严重。PAV/PAV患者术前CT扫描出现轻微变化的可能性是前者的两倍(P = 0.0158;OR = 2.1;F i = 0.24)。我们的研究证实,PAV/PAV双倍型可能具有一些保护特性,而携带AVI单倍型可能易患CRSwNP。