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[锰超氧化物歧化酶、谷胱甘肽过氧化物酶1和谷胱甘肽S-转移酶P1基因中的点突变对俄罗斯联邦阿尔泰地区居民家族性和散发性乳腺癌风险的影响]

[Effect of point substitutions in the MnSOD, GPX1, and GSTP1 genes on the risk of familial and sporadic breast cancers in residents of the Altaĭ region of the Russian Federation].

作者信息

Ermolenko N A, Boiarskikh U A, Sushko A G, Voronina E N, Selezneva I A, Sinkina T V, Lazarev A F, Petrova V D, Filipenko M L

出版信息

Genetika. 2010 Dec;46(12):1685-91.

Abstract

The frequencies of the polymorphic gene variants MnSOD Ala9Val, GPX1 Pro198Leu, and GSTP1 Ile105 Val were estimated in female residents of Altai krai with breast cancer. The frequency distributions of the genotypes for all genes studied in both patients and control subjects fit the Hardy-Weinberg equilibrium. The estimated frequencies of the genotypes for the studied genes in the control group did not differ from those earlier reported for Caucasoid women living in Europe. The T(rs1050450) allele of the GPX1 gene was demonstrated to protect against sporadic breast cancer (OR = 0.74 (95% CI = 0.58-0.94), p = 0.012). Carriers of the genotype combination MnSOD CC + GPX1 CC were found to have a 1.6 times higher risk of sporadic breast cancer compared to the control group (OR = 1.59 (1.05-2.41), p = 0.0258). The polymorphic loci GSTP1 (rs1695) and MnSOD (rs4880) were not found to be significantly associated with the risk of familial or sporadic breast cancer.

摘要

在阿尔泰边疆区患有乳腺癌的女性居民中,对多态性基因变体MnSOD Ala9Val、GPX1 Pro198Leu和GSTP1 Ile105 Val的频率进行了估计。在患者和对照受试者中研究的所有基因的基因型频率分布均符合哈迪-温伯格平衡。对照组中所研究基因的基因型估计频率与先前报道的生活在欧洲的白种女性的频率没有差异。GPX1基因的T(rs1050450)等位基因被证明可预防散发性乳腺癌(比值比=0.74(95%置信区间=0.58 - 0.94),p = 0.012)。发现基因型组合MnSOD CC + GPX1 CC的携带者患散发性乳腺癌的风险比对照组高1.6倍(比值比=1.59(1.05 - 2.41),p = 0.0258)。未发现多态性位点GSTP1(rs1695)和MnSOD(rs4880)与家族性或散发性乳腺癌风险有显著关联。

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