Weger Martin, Stanger Olaf, Deutschmann Hannes, Leitner Franz Josef, Renner Wilfried, Schmut Otto, Semmelrock Jürgen, Haas Anton
Department of Ophthalmology, Karl-Franzens University, Graz, Austria.
Am J Ophthalmol. 2002 Jul;134(1):57-61. doi: 10.1016/s0002-9394(02)01471-x.
Hyperhomocysteinemia has been established as an important risk factor for cardiovascular diseases. The aim of the present study was to investigate whether hyperhomocysteinemia and/or homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T mutation are associated with an increased risk for retinal artery occlusion (RAO).
Retrospective case-control study.
We studied 105 consecutive patients with retinal artery occlusion and 105 age and sex-matched control subjects. Fasting plasma homocysteine levels were determined by high-performance liquid chromatography, while genotypes of the MTHFR C677T mutation were determined by polymerase chain reaction.
Mean plasma homocysteine levels were significantly higher in patients with RAO compared with control subjects (12.2 +/- 4.8 micromol/l vs 10.3 +/- 3.4 micromol/l; P =.003). Hyperhomocysteinemia was defined by the 95th percentile of control plasma homocysteine levels as 15.8 micromol/l. Twenty (19.1%) patients with RAO exceeded this level and were therefore classified as hyperhomocysteinemic compared with 5 (4.8%) control subjects (P =.003). The odds ratio for these patients was calculated at 4.7 (95% confidence interval [CI], 1.5-15.1). Mean plasma folate levels were significantly lower in patients than in the control group (5.6 +/- 2.3 ng/ml vs. 6.3 +/- 2.5 ng/ml; P =.04). The prevalence of the homozygous genotype of methylenetetrahydrofolate reductase C677T mutation did not significantly differ between patients and controls.
Our results suggest that hyperhomocysteinemia, but not homozygosity, for the MTHFR C677T mutation is associated with RAO.
高同型半胱氨酸血症已被确认为心血管疾病的一个重要危险因素。本研究的目的是调查高同型半胱氨酸血症和/或亚甲基四氢叶酸还原酶（MTHFR）C677T突变的纯合性是否与视网膜动脉阻塞（RAO）风险增加相关。
回顾性病例对照研究。
我们研究了105例连续性视网膜动脉阻塞患者以及105例年龄和性别相匹配的对照者。采用高效液相色谱法测定空腹血浆同型半胱氨酸水平，通过聚合酶链反应测定MTHFR C677T突变的基因型。
与对照者相比，RAO患者的平均血浆同型半胱氨酸水平显著更高（12.2±4.8微摩尔/升对10.3±3.4微摩尔/升；P = 0.003）。以对照血浆同型半胱氨酸水平的第95百分位数15.8微摩尔/升定义高同型半胱氨酸血症。20例（19.1%）RAO患者超过此水平，因此被归类为高同型半胱氨酸血症，而对照者中有5例（4.8%）（P = 0.003）。这些患者的比值比经计算为4.7（95%置信区间[CI]，1.5 - 15.1）。患者的平均血浆叶酸水平显著低于对照组（5.6±2.3纳克/毫升对6.3±2.5纳克/毫升；P = 0.04）。患者与对照者之间亚甲基四氢叶酸还原酶C677T突变纯合基因型的患病率无显著差异。
我们的结果表明，MTHFR C677T突变导致的高同型半胱氨酸血症而非纯合性与RAO相关。
