Genetic variability in DNA repair proteins in age-related macular degeneration.
Genetic variability in DNA repair proteins in age-related macular degeneration.
复制标题
与年龄相关的黄斑变性中DNA修复蛋白的遗传变异性。
DOI：
10.3390/ijms131013378
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发表时间：
2012-10-18
影响因子：
5.6
通讯作者：
Kaarniranta K
中科院分区：
文献类型：
--
作者：
Blasiak J;Synowiec E;Salminen A;Kaarniranta K
老年性黄斑变性(AMD)的发病机制复杂，涉及环境因素和遗传因素的相互作用，氧化应激对包括DNA在内的生物分子的损伤起着重要作用。因此，DNA修复系统各组成部分的遗传变异可能会影响细胞应对氧化应激的能力，从而参与AMD的发病机制。然而，到目前为止，关于这一主题的报道很少。我们证明hOGG1基因的c.977C和GT；G多态(Rs1052133)和MUTYH基因的c.972G和gt；C多态(Rs3219489)可能与AMD的风险有关，它们的产物在DNA氧化损伤的修复中起重要作用。氧化应激可能会促进尿嘧啶错误结合到DNA中，在DNA中，它是几种DNA糖基酶的靶标。我们观察到编码糖基酶的两个基因UNG和SMUG1的g.4235T和gt；C(Rs2337395)和c.-32A>；G(Rs3087404)多态性可能与AMD的发生有关。其他一些DNA修复基因，包括XPD(ERCC2)、XRCC1和ERCC6(CSB)的多态性也被报道与AMD有关。这些数据证实了细胞对DNA损伤反应的重要性，这可能受到DNA修复基因变异的影响，在AMD的发病机制中。
The pathogenesis of age-related macular degeneration (AMD) is complex and involves interactions between environmental and genetic factors, with oxidative stress playing an important role inducing damage in biomolecules, including DNA. Therefore, genetic variability in the components of DNA repair systems may influence the ability of the cell to cope with oxidative stress and in this way contribute to the pathogenesis of AMD. However, few reports have been published on this subject so far. We demonstrated that the c.977C>G polymorphism (rs1052133) in the hOGG1 gene and the c.972G>C polymorphism (rs3219489) in the MUTYH gene, the products of which play important roles in the repair of oxidatively damaged DNA, might be associated with the risk of AMD. Oxidative stress may promote misincorporation of uracil into DNA, where it is targeted by several DNA glycosylases. We observed that the g.4235T>C (rs2337395) and c.–32A>G (rs3087404) polymorphisms in two genes encoding such glycosylases, UNG and SMUG1, respectively, could be associated with the occurrence of AMD. Polymorphisms in some other DNA repair genes, including XPD (ERCC2), XRCC1 and ERCC6 (CSB) have also been reported to be associated with AMD. These data confirm the importance of the cellular reaction to DNA damage, and this may be influenced by variability in DNA repair genes, in AMD pathogenesis.
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影响因子：
4.8
作者：
Boorstein, RJ;Cummings, A;Teebor, GW
通讯作者：
Teebor, GW
DOI：
10.1073/pnas.94.7.3290
发表时间：
1997-04-01
影响因子：
11.1
作者：
Blount, BC;Mack, MM;Ames, BN
通讯作者：
Ames, BN
影响因子：
64.8
作者：
通讯作者：
--
影响因子：
15.9
作者：
Endres, M;Biniszkiewicz, D;Jaenisch, R
通讯作者：
Jaenisch, R
影响因子：
11.4
作者：
An, Q;Robins, P;Barnes, DE
通讯作者：
Barnes, DE