Hu Jinjun, Xu Jing, Tian Tingting, Xie Juan, Fan Lifang, Zhu Guiyang, Xia Ting, Chen Xi, Tan Yanhong, Chen Xiuhua, Ren Fanggang, Zhang Yaofang, Wang Hongwei, Xu Zhifang
Department of Hematology, The Second Hospital of Shanxi Medical University,382 Wuyi St, Taiyuan, Shanxi, China.
Department of Hematology, The Second Hospital of Shanxi Medical University,382 Wuyi St, Taiyuan, Shanxi, China.
Blood Cells Mol Dis. 2019 Feb;74:44-50. doi: 10.1016/j.bcmd.2018.11.002. Epub 2018 Nov 7.
To study the association between TET2rs2454206, TET2rs12498609 and ASXL1rs3746609 and Myelodysplastic syndromes (MDS), a total of 90 MDS patients and 143 healthy volunteers were included. The clinical data, bone marrow samples of patients and peripheral blood samples of volunteers were obtained. We found TET2rs2454206 G/A genotype, TET2rs12498609 G/C genotype and ASXL1rs3746609 A/G genotype in 13.3%, 11.1%, 10.1% MDS patients and in 42.7%, 22.4%, 23.8% healthy volunteers (P < 0.001; P = 0.029; P = 0.009, respectively). TET2 rs2454206 G/A genotype was associated with higher serum LDH level in MDS (P = 0.025). Patients with TET2rs12498609 G/C genotype were characterized with higher frequency of mutated SRSF2 gene (P = 0.042) and lower occurrence rate of anemia (P = 0.026) than those with C/C genotype. ASXL1rs3746609 A/G genotype linked with higher thrombocyte counts (P = 0.02) and percent of total T lymphocyte (P = 0.029), whereas with lower percent of NK cell (P = 0.032) and B lymphocyte (P = 0.007). None of these three SNPs had impact on the overall survival and disease progression to AML. We concluded that People with TET rs2454206 G/A genotype, TET2rs12498609 G/C genotype or ASXL1rs3746609 A/G genotype were related to lower prevalence of MDS. All of the three SNPs were associated with certain laboratory features in MDS patients.
为研究TET2基因rs2454206、TET2基因rs12498609和ASXL1基因rs3746609与骨髓增生异常综合征（MDS）之间的关联，共纳入90例MDS患者和143名健康志愿者。获取了患者的临床资料、骨髓样本以及志愿者的外周血样本。我们在13.3%的MDS患者中发现了TET2基因rs2454206的G/A基因型，在11.1%的患者中发现了TET2基因rs12498609的G/C基因型，在10.1%的患者中发现了ASXL1基因rs3746609的A/G基因型；在健康志愿者中，上述基因型的比例分别为42.7%、22.4%和23.8%（P<0.001；P = 0.029；P = 0.009）。TET2基因rs2454206的G/A基因型与MDS患者较高的血清乳酸脱氢酶水平相关（P = 0.025）。与C/C基因型患者相比，TET2基因rs12498609的G/C基因型患者的SRSF2基因突变频率较高（P = 0.042），贫血发生率较低（P = 0.026）。ASXL1基因rs3746609的A/G基因型与较高的血小板计数（P = 0.02）和总T淋巴细胞百分比（P = 0.029）相关，而与较低的NK细胞百分比（P = 0.032）和B淋巴细胞百分比（P = 0.007）相关。这三个单核苷酸多态性（SNP）均未对总生存期和向急性髓系白血病（AML）的疾病进展产生影响。我们得出结论，携带TET基因rs2454206的G/A基因型、TET2基因rs12498609的G/C基因型或ASXL1基因rs3746609的A/G基因型的人群与MDS的较低患病率相关。这三个SNP均与MDS患者的某些实验室特征相关。
