*Department of Molecular Genetics, University of Lodz, Pomorska, Lodz, Poland; †Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland; and ‡Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Warsaw, Poland.
Retina. 2014 Jan;34(1):38-47. doi: 10.1097/IAE.0b013e31829477d8.
To investigate the association between the g.4235T>C (rs2337395) polymorphism of the UNG gene and the c.-31A>G (rs3087404) polymorphism of the SMUG1 gene and the risk of age-related macular degeneration (AMD), as well as modulation of this association by some environmental and lifestyle factors.
Overall, 272 AMD patients and 105 control subjects were enrolled in this study. Both polymorphisms were genotyped by restriction fragment length polymorphism-polymerase chain reaction (PCR-RFLP).
The C/C genotype of the g.4235T>C polymorphism of the UNG gene was associated with an increased risk of dry AMD (odds ratio, 2.54), whereas the T/T genotype of this polymorphism decreased such risk (odds ratio, 0.41). The presence of the T allele of the g.4235T>C polymorphism and the A allele of the c.-31A>G polymorphism of the SMUG1 gene (odds ratio, 2.17 and 2.18, respectively) was associated with an increased risk of AMD severity, expressed by the comparison of the frequencies of genotypes in the group of patients with wet AMD versus those with dry AMD. Conversely, the C/C genotype of the g.4235T>C polymorphism, the G/G genotype of the c.-31A>G polymorphism, and the C/C-G/G combined genotype of both polymorphisms had a protective effect (odds ratio, 0.48, 0.46, and 0.18; respectively).
The results obtained suggest the potential role of the g.4235T>C and the c.-31A>G polymorphisms in AMD pathogenesis.
探讨UNG 基因 g.4235T>C(rs2337395)多态性和 SMUG1 基因 c.-31A>G(rs3087404)多态性与年龄相关性黄斑变性（AMD）风险的关系，并研究一些环境和生活方式因素对此相关性的调节作用。
本研究共纳入 272 例 AMD 患者和 105 例对照者。采用限制性片段长度多态性-聚合酶链反应（PCR-RFLP）法检测两种多态性。
UNG 基因 g.4235T>C 多态性的 C/C 基因型与干性 AMD 的发病风险增加相关（比值比，2.54），而该多态性的 T/T 基因型降低了这种风险（比值比，0.41）。g.4235T>C 多态性的 T 等位基因和 SMUG1 基因 c.-31A>G 多态性的 A 等位基因（比值比，2.17 和 2.18）的存在与 AMD 严重程度的风险增加相关，通过比较湿性 AMD 患者组与干性 AMD 患者组基因型的频率来体现。相反，g.4235T>C 多态性的 C/C 基因型、c.-31A>G 多态性的 G/G 基因型以及两种多态性的 C/C-G/G 组合基因型具有保护作用（比值比，0.48、0.46 和 0.18）。
研究结果提示 g.4235T>C 和 c.-31A>G 多态性可能在 AMD 发病机制中发挥作用。
