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[弥漫性大B细胞淋巴瘤患者中TP53基因rs1042522、rs1625895和rs17878362标记的连锁不平衡与单倍型]

[Linkage disequilibrium and haplotypes of rs1042522, rs1625895 and rs17878362 gene TP53 markers in patients with diffuse large B-cell lymphoma].

作者信息

Voropaeva E N, Voevoda M I, Pospelova T I, Maksimov V N

出版信息

Mol Biol (Mosk). 2014 Sep-Oct;48(5):763-70.

Abstract

Association of rs1042522, rs17878362 and rs1625895 markers with non-Hodgkin's lymphoma risk is not well studied. Large number of non-Hodgkin's lymphoma entities, as well as a small effect of each of the polymorphisms on the lymphomas risk, leads to the analyses of these markers in each of histological subtypes of lymphoma and to study the polymorphisms in the haplotype groups. The goal of this work was to analyze the frequency, haplotypes and linkage disequilibrium of rs1042522, rs1625895 and rs17878362 in the patients with diffuse large B-cell lymphoma and in control group. The differences in the structure of LD between rs17878362, rs1042522 and rs1625895 TP53 gene in the population of the Siberian region were shown. Haplotype approach wasmore informative in the analyses of association of the gene TP53 polymorphisms and the diffuse large B-cell lymphomas risk in case-control study than the study of each polymorphism. The association of haplotype wArgG with diffuse large B-cell lymphoma risk, and the protective effect of haplotypes wProG or dupProG were identified. The difference in the effects of the haplotype TP53 was noted depending on the homozygous or heterozygous diplotype.

摘要

rs1042522、rs17878362和rs1625895标记与非霍奇金淋巴瘤风险的关联尚未得到充分研究。大量的非霍奇金淋巴瘤实体,以及每个多态性对淋巴瘤风险的微小影响,导致对淋巴瘤各组织学亚型中的这些标记进行分析,并研究单倍型组中的多态性。这项工作的目的是分析弥漫性大B细胞淋巴瘤患者和对照组中rs1042522、rs1625895和rs17878362的频率、单倍型和连锁不平衡。结果显示,西伯利亚地区人群中rs17878362、rs1042522和rs1625895 TP53基因之间的连锁不平衡结构存在差异。在病例对照研究中,单倍型方法在分析TP53基因多态性与弥漫性大B细胞淋巴瘤风险的关联时比研究每个多态性更具信息性。确定了单倍型wArgG与弥漫性大B细胞淋巴瘤风险的关联,以及单倍型wProG或dupProG的保护作用。根据纯合或杂合双倍型,观察到TP53单倍型效应的差异。

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