PDF(Pubmed)
Abstract：
UNASSIGNED: Genetic variations in TP53 gene are known to be important in chronic lymphocytic leukemia (CLL) and may cause its inactivation which is associated with an aggressive form of the disease. Single nucleotide polymorphism (rs1042522:G>C) in TP53 gene at codon 72 encodes for arginine (Arg) or proline (Pro) variant which results in amino acid substitution affecting the apoptotic potential of TP53 protein. The aim of this study was to assess the correlation between TP53 codon 72 polymorphism and risk susceptibility as well as severity of CLL among Tunisian patients.
UNASSIGNED: A case-control study was conducted in Tunisia from February 2019 to November 2021, 160 de novo CLL patients and 160 healthy volunteers matched in age and gender were involved. DNA was extracted from peripheral blood mononuclear cells and the rs1042522 was analyzed using PCR-RFLP.
UNASSIGNED: Pro variant was associated with higher susceptibility to CLL than Arg variant (p= 0.023). A significant association was found between Pro variant and prognostic classification of Binet stage C (p= 0.001), low hemoglobin level (p= 0.003) and low platelet count (p= 0.016).
UNASSIGNED: We suggest that Pro variant may increase the risk of developing CLL in our population and could be associated with the severity of the disease.
UNASSIGNED: A case-control study was conducted in Tunisia from February 2019 to November 2021, 160 de novo CLL patients and 160 healthy volunteers matched in age and gender were involved. DNA was extracted from peripheral blood mononuclear cells and the rs1042522 was analyzed using PCR-RFLP.
UNASSIGNED: Pro variant was associated with higher susceptibility to CLL than Arg variant (p= 0.023). A significant association was found between Pro variant and prognostic classification of Binet stage C (p= 0.001), low hemoglobin level (p= 0.003) and low platelet count (p= 0.016).
UNASSIGNED: We suggest that Pro variant may increase the risk of developing CLL in our population and could be associated with the severity of the disease.
摘要：
已知TP53基因的遗传变异在慢性淋巴细胞白血病（CLL）中很重要，并可能导致其失活，这与该疾病的侵袭性形式有关。TP53基因中密码子72处的单核苷酸多态性(rs1042522:G>C)编码精氨酸(Arg)或脯氨酸(Pro)变体,其导致影响TP53蛋白的凋亡潜能的氨基酸取代。这项研究的目的是评估突尼斯患者TP53密码子72多态性与CLL的风险易感性和严重程度之间的相关性。
于2019年2月至2021年11月在突尼斯进行了一项病例对照研究，涉及160名新生CLL患者和160名年龄和性别匹配的健康志愿者。从外周血单核细胞中提取DNA，并使用PCR-RFLP分析rs1042522。
■Pro变异体对CLL的易感性高于Arg变异体（p=0.023）。发现Pro变异与BinetC期的预后分类之间存在显着关联（p=0.001），低血红蛋白水平（p=0.003）和低血小板计数（p=0.016）。
■我们建议Pro变异可能会增加我们人群中发生CLL的风险，并且可能与疾病的严重程度有关。
于2019年2月至2021年11月在突尼斯进行了一项病例对照研究，涉及160名新生CLL患者和160名年龄和性别匹配的健康志愿者。从外周血单核细胞中提取DNA，并使用PCR-RFLP分析rs1042522。
■Pro变异体对CLL的易感性高于Arg变异体（p=0.023）。发现Pro变异与BinetC期的预后分类之间存在显着关联（p=0.001），低血红蛋白水平（p=0.003）和低血小板计数（p=0.016）。
■我们建议Pro变异可能会增加我们人群中发生CLL的风险，并且可能与疾病的严重程度有关。
