Arch Med Res. 2010 Aug;41(6):410-22. doi: 10.1016/j.arcmed.2010.08.005.
The methylenetetrahydrofolate reductase (MTHFR) gene plays a key role in the metabolism of folate and homocysteine (Hcy) and its mutations have been associated with high serum Hcy level. Elevated serum Hcy has been linked to impaired endothelial function and occlusive vascular disease. We studied the association among the different genotypes of all three MTHFR polymorphisms (C677T, A1298C, and G1793A) and the risk of early-onset vasculogenic erectile dysfunction (VED).
We performed a case-control study of 114 men with early-onset VED and 228 age-matched controls. Genotyping of MTHFR gene polymorphisms was performed using polymerase chain reaction restriction fragment length polymorphism (PCR-RLFP) technique. We also measured plasma lipids, Hcy, folate, and vitamin B12 levels.
Patients with early-onset VED had higher serum Hcy levels (12.29 ± 2.32 vs. 9.82 ± 2.35 μmol/L, p = 0.001) and higher prevalence of 677TT homozygocity compared to controls (15.8% vs. 11.4%, p = 0.01). Serum Hcy concentration was significantly higher in individuals with 677TT, 1298CC, and 1793GG genotypes. Subgroup analysis according to severity of ED (mild, moderate, and severe) showed that patients with severe VED had higher serum Hcy levels compared to patients with mild VED (13.48 ± 2.51 vs. 11.21 ± 2.32 μmol/L, p = 0.001).
Odds ratio seems to demonstrate that individuals with the MTHFR 677TT genotype and the 677TT + 1298AC combined genotype had a 3.16- and 3.89-fold increased risk for developing VED, suggesting a possible association of MTHFR polymorphisms with the risk of early-onset VED.
亚甲基四氢叶酸还原酶（MTHFR）基因在叶酸和同型半胱氨酸（Hcy）代谢中起关键作用，其突变与高血清 Hcy 水平有关。高血清 Hcy 与内皮功能障碍和闭塞性血管疾病有关。我们研究了三种 MTHFR 多态性（C677T、A1298C 和 G1793A）的所有不同基因型之间的关联以及早发性血管性勃起功能障碍（VED）的风险。
我们对 114 例早发性 VED 患者和 228 名年龄匹配的对照组进行了病例对照研究。使用聚合酶链反应限制性片段长度多态性（PCR-RLFP）技术对 MTHFR 基因多态性进行基因分型。我们还测量了血浆脂质、Hcy、叶酸和维生素 B12 水平。
早发性 VED 患者的血清 Hcy 水平较高（12.29±2.32 vs. 9.82±2.35 μmol/L，p=0.001），且 677TT 纯合子的患病率高于对照组（15.8% vs. 11.4%，p=0.01）。677TT、1298CC 和 1793GG 基因型个体的血清 Hcy 浓度显著升高。根据 ED 严重程度（轻度、中度和重度）进行亚组分析显示，与轻度 VED 患者相比，重度 VED 患者的血清 Hcy 水平更高（13.48±2.51 vs. 11.21±2.32 μmol/L，p=0.001）。
比值比似乎表明，MTHFR 677TT 基因型和 677TT+1298AC 合并基因型个体发生 VED 的风险分别增加 3.16 倍和 3.89 倍，提示 MTHFR 多态性与早发性 VED 的风险之间可能存在关联。
