In this study, we examined 130 patients with pituitary adenomas (PAs) and 320 healthy subjects, using DNA samples from peripheral blood leukocytes purified through the DNA salting-out method. Real-time polymerase chain reaction (RT-PCR) was used to assess single nucleotide polymorphisms (SNPs) and relative leukocyte telomere lengths (RLTLs), while enzyme-linked immunosorbent assay (ELISA) was used to determine the levels of TERF1, TERF2, TNKS2, CTC1, and ZNF676 in blood serum. Our findings reveal several significant associations. Genetic associations with pituitary adenoma occurrence: theTERF1rs1545827 CT + TT genotypes were linked to 2.9-fold decreased odds of PA occurrence. Conversely, theTNKS2rs10509637 GG genotype showed 6.5-fold increased odds of PA occurrence. Gender-specific genetic associations with PA occurrence: in females, theTERF1rs1545827 CC + TT genotypes indicated 3.1-fold decreased odds of PA occurrence, while theTNKS2rs10509637 AA genotype was associated with 4.6-fold increased odds. In males, the presence of theTERF1rs1545827 T allele was associated with 2.2-fold decreased odds of PA occurrence, while theTNKS2rs10509637 AA genotype was linked to a substantial 10.6-fold increase in odds. Associations with pituitary adenoma recurrence: theTNKS2rs10509637 AA genotype was associated with 4.2-fold increased odds of PA recurrence. On the other hand, theTERF1rs1545827 CT + TT genotypes were linked to 3.5-fold decreased odds of PA without recurrence, while theTNKS2rs10509637 AA genotype was associated with 6.4-fold increased odds of PA without recurrence. Serum TERF2 and TERF1 levels: patients with PA exhibited elevated serum TERF2 levels compared to the reference group. Conversely, patients with PA had decreased TERF1 serum levels compared to the reference group. Relative leukocyte telomere length (RLTL): a significant difference in RLTL between the PA group and the reference group was observed, with PA patients having longer telomeres. Genetic associations with telomere shortening: theTERF1rs1545827 T allele was associated with 1.4-fold decreased odds of telomere shortening. In contrast, theCTC1rs3027234 TT genotype was linked to 4.8-fold increased odds of telomere shortening. These findings suggest a complex interplay between genetic factors, telomere length, and pituitary adenoma occurrence and recurrence, with potential gender-specific effects. Furthermore, variations inTERF1andTNKS2genes may play crucial roles in telomere length regulation and disease susceptibility.
本研究对130例垂体腺瘤（PA）患者及320名健康受试者进行了分析，采用盐析法从外周血白细胞中提取DNA样本。通过实时聚合酶链反应（RT-PCR）检测单核苷酸多态性（SNPs）及相对白细胞端粒长度（RLTL），并采用酶联免疫吸附测定（ELISA）检测血清中TERF1、TERF2、TNKS2、CTC1和ZNF676的水平。研究结果揭示了若干显著关联：垂体腺瘤发生的遗传关联方面，TERF1 rs1545827 CT+TT基因型与PA发生风险降低2.9倍相关；而TNKS2 rs10509637 GG基因型则使PA发生风险增加6.5倍。性别特异性遗传关联显示：女性中TERF1 rs1545827 CC+TT基因型与PA风险降低3.1倍相关，TNKS2 rs10509637 AA基因型则使风险增加4.6倍；男性中TERF1 rs1545827 T等位基因与风险降低2.2倍相关，而TNKS2 rs10509637 AA基因型使风险显著增加10.6倍。垂体腺瘤复发的关联分析表明：TNKS2 rs10509637 AA基因型与复发风险增加4.2倍相关；TERF1 rs1545827 CT+TT基因型与无复发PA风险降低3.5倍相关，而TNKS2 rs10509637 AA基因型则使无复发PA风险增加6.4倍。血清蛋白水平检测显示：PA患者血清TERF2水平较参照组升高，而TERF1水平降低。端粒长度分析发现：PA组RLTL显著长于参照组。端粒缩短的遗传关联方面：TERF1 rs1545827 T等位基因与端粒缩短风险降低1.4倍相关，而CTC1 rs3027234 TT基因型则使风险增加4.8倍。这些发现提示遗传因素、端粒长度与垂体腺瘤发生及复发之间存在复杂的相互作用，且可能存在性别特异性效应。此外，TERF1和TNKS2基因变异可能在端粒长度调控及疾病易感性中发挥关键作用。
肿瘤(癌症)患者之家