Neuroscience Institute, Lithuanian University of Health Sciences, Medical Academy, Eivenių 2, LT-50161, Kaunas, Lithuania.
Department of Ophthalmology, Lithuanian University of Health Sciences, Medical Academy, LT-50161, Kaunas, Lithuania.
BMC Med Genet. 2019 Nov 20;20(1):185. doi: 10.1186/s12881-019-0892-x.
Our purpose was to determine if SIRT1 (rs4746720, rs3740051) genotypes have an influence on the development of pituitary adenoma (PA).
The study group included 142 patients with pituitary adenoma (PA) and the control group consisted of 826 healthy people. The genotyping of SIRT1 (rs4746720, rs3740051) was carried out using the real-time polymerase chain reaction method.
Statistically significant results were obtained in the analysis of SIRT1 rs3740051. Significant differences in genotype (G/G, G/A, A/A) distribution were obtained comparing patients with PA without recurrence and PA with recurrence (0, 17.9, 82.1% vs. 6.7, 6.7, 86.7%, respectively, p = 0.022). Also, statistically significant differences were observed when comparing the genotype (G/G, G/A, A/A) distribution in the non-invasive PA group and the invasive PA group (3.4, 25.9, 70.7% vs. 0, 8.3, 91.7%, respectively, p = 0.003), and allele G was less frequently observed in invasive PA, than in non-invasive PA (4.2% vs. 16.4%, p < 0,001). Further analysis revealed that G/A (OR = 0.261; 95% CI:0.099-0.689; p = 0.007) and each allele A (OR = 0.229; 95% CI:0.091-0.575; p = 0.002) were associated with lower odds of occurring an invasive PA.
Our study revealed that SIRT1 rs3740051 is associated with PA recurrence and invasiveness. The haplotype containing alleles C-A in rs12778366-rs3740051 was found to be associated with increased odds of PA development as well.
本研究旨在探讨 SIRT1（rs4746720、rs3740051）基因型是否会影响垂体腺瘤（PA）的发生。
研究组纳入 142 例垂体腺瘤患者，对照组为 826 名健康人。采用实时聚合酶链反应法对 SIRT1（rs4746720、rs3740051）进行基因分型。
rs3740051 的分析结果具有统计学意义。无复发和复发的 PA 患者的基因型（G/G、G/A、A/A）分布存在显著差异（0、17.9、82.1%比 6.7、6.7、86.7%，p=0.022）。非侵袭性 PA 组和侵袭性 PA 组的基因型（G/G、G/A、A/A）分布也存在显著差异（3.4、25.9、70.7%比 0、8.3、91.7%，p=0.003），侵袭性 PA 中 G 等位基因的频率低于非侵袭性 PA（4.2%比 16.4%，p<0.001）。进一步分析显示，G/A（OR=0.261；95%CI：0.099-0.689；p=0.007）和 A 等位基因（OR=0.229；95%CI：0.091-0.575；p=0.002）与侵袭性 PA 的发生风险降低有关。
本研究表明，SIRT1 rs3740051 与 PA 的复发和侵袭性有关。rs12778366-rs3740051 中包含 C-A 等位基因的单倍型与 PA 的发生风险增加有关。
