Immune Response & Vascular Disease Unit, NOVA Medical School/Faculdade de Ciências Médicas, Universidade NOVA de Lisboa, Lisboa, Portugal.
Dumfries & Galloway Royal Infirmary, Dumfries, UK.
Ophthalmic Genet. 2024 Aug;45(4):378-383. doi: 10.1080/13816810.2024.2318612. Epub 2024 Feb 23.
To assess age at 1 central retinal vein occlusion (CRVO) in carriers ≤ 45 years old of the methylenetetrahydrofolate reductase (MTHFR) C667T genotype compared to heterozygous and wild type, and to identify predictors of age at CRVO.
Retrospective cohort study consisting of 18 MTHFR TT, 23 MTHFR TC and 28 MTHFR CC participants; information regarding age, sex, age at CRVO, history of dyslipidaemia, hypertension, smoking and plasma HC measured by immunoassay were collected.
Age at CRVO was lower in MTHFR TT than MTHFR TC and CC (32 ± 6 vs 38 ± 5 vs 37 ± 6 years, respectively, = 0.005); plasma HC was higher in MTHFR TT than in the other genotypes [14.4 (10.8, 19.6) vs 10.4 ((8.6,12.5) vs 8.5 ((7.5,9.8) μmol/l, = 0.0002). Smoking (cigarettes/day) independently predicted age at CRVO ( = 0.039) and plasma HC ( = 0.005); smoking status (yes/no) predicted ischemic CRVO ( = 0.01) that was more common in the MTHFR TT group ( = 0.006).
Carriers of the MTHFR TT genotype ≤ 45 years old develop their 1 CRVO on average 5 years earlier than the MTHFR CC genotype; smoking contributes to the prematurity and severity of CRVO in MTHFR TT carriers.
评估≤45 岁携带亚甲基四氢叶酸还原酶（MTHFR）C667T 基因型的中央视网膜静脉阻塞（CRVO）患者的发病年龄，并确定 CRVO 发病年龄的预测因素。
回顾性队列研究纳入了 18 名 MTHFR TT 型、23 名 MTHFR TC 型和 28 名 MTHFR CC 型患者；收集了年龄、性别、CRVO 发病年龄、血脂异常史、高血压史、吸烟史和免疫测定法测量的血浆同型半胱氨酸（HC）等信息。
MTHFR TT 型患者的 CRVO 发病年龄低于 MTHFR TC 和 CC 型患者（分别为 32±6 岁、38±5 岁和 37±6 岁， = 0.005）；MTHFR TT 型患者的血浆 HC 高于其他基因型[14.4（10.8，19.6）μmol/L vs 10.4（8.6，12.5）μmol/L vs 8.5（7.5，9.8）μmol/L， = 0.0002]。吸烟量（支/天）独立预测 CRVO 发病年龄（ = 0.039）和血浆 HC（ = 0.005）；吸烟状态（是/否）预测缺血性 CRVO（ = 0.01），MTHFR TT 型患者更常见（ = 0.006）。
≤45 岁携带 MTHFR TT 基因型的患者比携带 MTHFR CC 基因型的患者平均早 5 年发生 1 次 CRVO；吸烟会导致 MTHFR TT 携带者的 CRVO 发病年龄提前和病情加重。
