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年龄相关性白内障中 HSP70 的遗传多态性。

Genetic polymorphisms of HSP70 in age-related cataract.

机构信息

Eye Hospital, The First Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, 150001, China.

出版信息

Cell Stress Chaperones. 2013 Nov;18(6):703-9. doi: 10.1007/s12192-013-0420-4. Epub 2013 May 11.

Abstract

Polymorphisms have been identified in several HSP70 genes, which may affect HSP70 repair efficiency. We investigated the association of the polymorphisms in HSPA1A, HSPA1B, and HSPA1L genes in the HSPs repair pathway with the risk of cataract in a Chinese population. The study included 415 cataract patients and 386 controls. Genotyping was done by the polymerase chain reaction-restriction fragment length polymorphism method. HSPA1B 1267 A/A genotype seems to have a protective role against cataract (p = 0.014, odds ratio (OR) = 0.664, 95 % confidence intervals (CI) = 0.480-0.919), and the G allele (p = 0.057, OR = 1.216, 95 % CI = 0.999-1.479) does not seem to have a deleterious role in the development of cataract. Haplotypes with frequencies of GAT were significantly different than those of controls (p = 0.005). In HSPA1A G190C and HSPA1L T2437C polymorphisms, there were no significant differences in frequencies of the variant homozygous in patients compared to controls. We conclude that the A/A genotype of HSPA1B A1267G polymorphism seem to have a protective role against age-related cataract.

摘要

已经在多个 HSP70 基因中鉴定出了多态性,这些多态性可能影响 HSP70 的修复效率。我们研究了 HSP 修复途径中 HSPA1A、HSPA1B 和 HSPA1L 基因的多态性与中国人群白内障风险之间的关系。该研究包括 415 例白内障患者和 386 例对照。通过聚合酶链反应-限制性片段长度多态性方法进行基因分型。HSPA1B 1267 A/A 基因型似乎对白内障有保护作用(p=0.014,比值比(OR)=0.664,95%置信区间(CI)=0.480-0.919),并且 G 等位基因(p=0.057,OR=1.216,95%CI=0.999-1.479)似乎对白内障的发展没有有害作用。GAT 频率的单倍型与对照组有显著差异(p=0.005)。在 HSPA1A G190C 和 HSPA1L T2437C 多态性中,与对照组相比,患者中变异纯合子的频率没有显著差异。我们得出结论,HSPA1B A1267G 多态性的 A/A 基因型似乎对年龄相关性白内障有保护作用。

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Genetic polymorphisms of HSP70 in age-related cataract.年龄相关性白内障中 HSP70 的遗传多态性。
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