I Abramenko, N Bilous, A Chumak, I Dyagil, Z Martina
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Mutational status of IGHV genes and TP53 genotyping (rs1042522, rs1642785, rs17883323, rs2909430, rs145153611, rs113530090, rs12947788, rs12951053, and rs17878362) were performed by polymerase chain reaction amplification followed by direct sequencing.</p><p><strong>Results: </strong>Observed CLL patients were divided on groups with low (11.17 ± 2.66) and high (275.48 ± 39.37) LPL expression. In CLL patients with UM IGHV genes and low LPL expression we found an increased frequency of rs1042522 G (p = 0.0036), rs1642785 C (p = 0.0001), and rs17878362A2 alleles (p = 0.0091). The possible functional significance of these changes is discussed.</p><p><strong>Conclusion: </strong>Some polymorphic variants of TP53 may be genetic modifiers for LPL expression level in CLL leukemic B-cells. 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引用次数: 0
摘要
背景:脂蛋白脂肪酶(LPL)的表达与免疫球蛋白重链(IGHV)基因可变区未突变(UM)状态相关,但LPL在慢性淋巴细胞白血病(CLL)中UM的表达水平差异显著。目的:研究LPL表达与TP53基因变异的关系,因为这两个基因都参与脂质代谢。材料与方法:采用实时定量逆转录聚合酶链反应法检测45例携带UM IGHV基因的CLL患者外周血单个核中LPL mRNA的表达。采用聚合酶链反应扩增法检测IGHV基因突变状态和TP53基因分型(rs1042522、rs1642785、rs17883323、rs2909430、rs145153611、rs113530090、rs12947788、rs12951053、rs17878362),并进行直接测序。结果:CLL患者分为LPL低表达组(11.17±2.66)和高表达组(275.48±39.37)。在umighv基因和低LPL表达的CLL患者中,我们发现rs1042522 G (p = 0.0036)、rs1642785 C (p = 0.0001)和rs17878362A2等位基因的频率增加(p = 0.0091)。讨论了这些变化可能的功能意义。结论:TP53的一些多态性变异可能是CLL白血病b细胞LPL表达水平的遗传修饰因子。需要在更大的队列中进行进一步的研究来证实这些发现。
Association of lipoprotein lipase expression with TP53 gene polymorphisms in chronic lymphocytic leukemia cells.
Background: Expression of lipoprotein lipase (LPL) correlates with unmutated (UM) status of the variable region of the heavy chain of immunoglobulin (IGHV) genes, but the expression level of LPL in UM chronic lymphocytic leukemia (CLL) cases varies significantly.
Aim: To study the association of LPL expression with the genetic variants of the TP53 gene since both genes are involved in lipid metabolism.
Materials and methods: Expression of LPL mRNA was measured in peripheral blood mononuclears of 45 CLL patients with UM IGHV genes by real-time quantitative reverse transcription polymerase chain reaction. Mutational status of IGHV genes and TP53 genotyping (rs1042522, rs1642785, rs17883323, rs2909430, rs145153611, rs113530090, rs12947788, rs12951053, and rs17878362) were performed by polymerase chain reaction amplification followed by direct sequencing.
Results: Observed CLL patients were divided on groups with low (11.17 ± 2.66) and high (275.48 ± 39.37) LPL expression. In CLL patients with UM IGHV genes and low LPL expression we found an increased frequency of rs1042522 G (p = 0.0036), rs1642785 C (p = 0.0001), and rs17878362A2 alleles (p = 0.0091). The possible functional significance of these changes is discussed.
Conclusion: Some polymorphic variants of TP53 may be genetic modifiers for LPL expression level in CLL leukemic B-cells. Further research is required in a larger cohort to confirm these findings.
期刊介绍:
The Experimental Oncology is an English-language journal that publishes review articles, original contributions, short communications, case reports and technical advances presenting new data in the field of experimental and fundamental oncology. Manuscripts should be written in English, contain original work, which has not been published or submitted for publication elsewhere. It also implies the transfer of the Copyright from the author to “Experimental Oncology”. No part of journal publications may be reproduced, stored in a retrieval system or transmitted in any form or by any means without the prior permission of the publisher.