Influence of Single Nucleotide Polymorphisms on CRS Outcomes: A Preliminary Observational Study

医学 单核苷酸多态性 内科学 观察研究 基因型 计算生物学 遗传学 生物 基因
作者
Antonino Maniaci,Paolo Giuseppe Bonacci,Stefania Stefani,Salvatore Cocuzza,Federico Merlino,Alberto Maria Saibene,Giuseppe Sangiorgio,Juan M. Solano,Jérôme R. Lechien,Ignazio La Mantia,Nicolò Musso
出处
期刊:Laryngoscope [Wiley]
卷期号:135 (2): 570-578
标识
DOI:10.1002/lary.31719
摘要

Objective(s) To conduct a preliminary investigation into the relationship between specific SNP variants, type II inflammation, and the effectiveness of dupilumab therapy and surgery in patients with CRS. Methods In this prospective study, 48 subjects were enrolled, comprising 32 CRS patients and 16 healthy controls. The CRS patients were subjected to either dupilumab therapy or endoscopic surgery according to EPOS guidelines. SNP variants were identified using the TaqMan SNP genotyping technique. The identified SNP profiles were compared between the control group and CRS patients, and their potential influence on treatment outcomes was evaluated. Treatment responses were assessed based on symptom scores, such as SS‐I, SNOT‐22, disease progression using the NPS findings, and SNP profiles at a 6‐month follow‐up. The primary measures included the Nasal Polyp Score, Smell Identification Test (SIT) score, and SNOT‐22 outcomes. Results Dupilumab therapy and surgery significantly decreased NPS, with the last showing superior results. However, dupilumab therapy resulted in a significantly improved SIT score. Significant differences were observed in SNP profiles, particularly with rs1800629 (TNFA), rs2856838 (IL1a), rs17561 (IL1a), and rs1805011 (IL4R). In particular, the expression of rs2856838 and rs1805011 variants in the dupilumab group was associated with significantly better SIT and SNOT‐22 outcomes than non‐expressors. Also, the surgery group patients expressing the rs2856838 variant reported significant improvements in SNOT‐22 scores. Conclusion These preliminary findings suggest that SNP genotypes may guide personalized treatment strategies for CRS. Further larger prospective studies are required to confirm these initial observations. Level of Evidence 2 Laryngoscope , 135:570–578, 2025
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