Department of Molecular Genetics, University of Lodz, Lodz, Poland.
Med Sci Monit. 2011 Aug;17(8):CR449-455. doi: 10.12659/msm.881906.
Age-related macular degeneration (AMD) is a primary cause of blindness among the elderly in developed countries. The nature of AMD is complex and includes both environmental and hereditary factors. Oxidative stress is thought to be essential in AMD pathogenesis. Iron is suggested to be implicated in the pathogenesis of AMD through the catalysis of the production of reactive oxygen species, which can damage the retina. Heme oxygenase-2 is capable of degradation of heme producing free iron ions, thus, diversity in heme oxygenase-2 gene may contribute to AMD. In the present work we analyzed the association between the c.544G>A polymorphism of the heme oxygenase-2 gene (HMOX2) (rs1051308) and AMD.
MATERIAL/METHODS: This study enrolled 276 AMD patients and 105 sex- and age-matched controls. Genotyping of the polymorphism was performed with restriction fragment length polymorphism polymerase chain reaction (RFLP-PCR) on DNA isolated from peripheral blood.
We did not find any association between the genotypes of the c.544G>A polymorphism and the occurrence of AMD. This lack of association was independent of potential AMD risk factors: tobacco smoking, sex and age. Moreover, we did not find any association between AMD and smoking in our study population.
The results suggest that the c.544G>A polymorphism of the heme oxygenase-2 gene is not associated with AMD in this Polish subpopulation.
年龄相关性黄斑变性（AMD）是发达国家老年人失明的主要原因。AMD 的性质复杂，包括环境和遗传因素。氧化应激被认为是 AMD 发病机制的关键。铁被认为通过催化活性氧的产生而参与 AMD 的发病机制，这些活性氧可以损害视网膜。血红素加氧酶-2能够降解血红素产生游离的铁离子，因此血红素加氧酶-2 基因的多样性可能与 AMD 有关。在本研究中，我们分析了血红素加氧酶-2 基因（HMOX2）c.544G>A 多态性（rs1051308）与 AMD 之间的关联。
材料/方法：本研究纳入了 276 名 AMD 患者和 105 名性别和年龄匹配的对照。通过从外周血中分离的 DNA 进行限制性片段长度多态性聚合酶链反应（RFLP-PCR），对多态性进行基因分型。
我们没有发现 c.544G>A 多态性的基因型与 AMD 的发生之间存在任何关联。这种关联的缺失独立于潜在的 AMD 风险因素：吸烟、性别和年龄。此外，我们在研究人群中未发现 AMD 与吸烟之间存在任何关联。
研究结果表明，在波兰这个亚人群中，血红素加氧酶-2 基因的 c.544G>A 多态性与 AMD 无关。
