Results for “rs2228226”

PubMed2025

The association between rs2228226 and postoperative clinical outcomes in gastric adenocarcinoma: a retrospective study.

BACKGROUND: This study aims to investigate the differences in postoperative prognosis associated with the single nucleotide polymorphism (SNP) rs2228226 (G > C) in gastric adenocarcinoma (GAC) patients. METHODS: This study enrolled 661 patients with locally advanced (pT4a) GAC after surgery. DNA was extracted from their tissues and genotyped for rs2228226 using a MassARRAY Analyzer. Based on the patients' clinical and pathological information, a multifactorial Cox regression analysis was performed to assess the correlation between rs2228226 and the clinical prognosis of pT4a GAC patients. Survival differences among patients who received postoperative chemotherapy were also examined according to rs2228226. RESULTS: After excluding patients with distant metastasis, loss to follow-up, and those not meeting the inclusion criteria, a total of 463 patients with complete data were included. The rs2228226 genotype distribution was as follows: C/C = 57 (12.3%), G/C = 200 (43.2%), and G/G = 206 (44.5%). Patients with the C/C genotype had significantly shorter disease-free survival (DFS = 12 months) and overall survival (OS = 27 months) compared to those with the G/C or G/G genotype (DFS = 19 months, log-rank P = 0.003; OS = 35 months, log-rank P = 0.002). Further analysis of patients receiving chemotherapy identified the C/C genotype, advanced age, lymph node metastasis, degree of differentiation, and failure to achieve R0 resection as independent risk factors for tumor recurrence and metastasis (P < 0.05). The C/C genotype, lymph node metastasis, and tumor recurrence and metastasis were independent risk factors for mortality (P < 0.05). CONCLUSIONS: In pT4a GAC patients undergoing postoperative chemotherapy, the C/C genotype at rs2228226 is an independent risk factor for tumor recurrence, metastasis, and death. The rs2228226 (G > C) polymorphism may serve as a potential biomarker for predicting prognosis after chemotherapy in GAC.

Humans↗

PubMed2026

Clinical implication of transcriptional dysregulation in the SHH-GLI pathway involving the GLI1 rs61739569 (T>C) variant toward chronic obstructive pulmonary disease (COPD) in North Indians.

BACKGROUND: Chronic obstructive pulmonary disease (COPD) ranks among the leading causes of morbidity and mortality globally. Genomic susceptibility factors are acknowledged as critical modulators of disease variability and progression. The Sonic Hedgehog (SHH) pathway regulates epithelial tissue healing, mucin synthesis, and airway remodeling. GLI1 polymorphic variants may influence the manifestations of COPD. METHODOLOGY: A case-control study was conducted, involving 500 patients with COPD and 500 controls from the North Indian population. We genotyped two GLI1 polymorphisms (rs61739569 (T>C) and rs2228226 (G>C). Logistic regression models were applied to examine the associations between COPD susceptibility and clinical features. RESULTS: rs61739569 and rs2228226 show no association with an increased risk of COPD overall. Nonetheless, rs61739569 exhibited significant phenotype-specific correlations: individuals possessing the CC genotype demonstrated a markedly elevated risk of chronic cough, sputum production, and exacerbations, while displaying a diminished risk of dyspnea and activity limitation. CONCLUSION: Variations in GLI1 may influence the symptoms of COPD, rather than the overall likelihood of developing COPD. The rs61739569 is particularly applicable to mucus-dominant phenotypes, such as those resembling chronic bronchitis. This study suggests that GLI1 signaling exhibits context-dependent functional significance in COPD.

Humans↗