Homozygous MTHFR C667T carriers ≤45 years old develop central retinal vein occlusion five years earlier than wild type.

IF 1.2 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-02-23 DOI:10.1080/13816810.2024.2318612

Paul Rj Ames, Alessia Arcaro, Giovanna D'Andrea, Vincenzo Marottoli, Luigi Iannaccone, Maurizio Maraglione, Fabrizio Gentile

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引用次数: 0

Abstract

Purpose: To assess age at 1^st 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.

Methods: 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.

Results: Age at CRVO was lower in MTHFR TT than MTHFR TC and CC (32 ± 6 vs 38 ± 5 vs 37 ± 6 years, respectively, p = 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, p = 0.0002). Smoking (cigarettes/day) independently predicted age at CRVO (p = 0.039) and plasma HC (p = 0.005); smoking status (yes/no) predicted ischemic CRVO (p = 0.01) that was more common in the MTHFR TT group (p = 0.006).

Conclusions: Carriers of the MTHFR TT genotype ≤ 45 years old develop their 1^st CRVO on average 5 years earlier than the MTHFR CC genotype; smoking contributes to the prematurity and severity of CRVO in MTHFR TT carriers.

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年龄小于 45 岁的同型 MTHFR C667T 携带者患视网膜中央静脉闭塞症的时间比野生型早 5 年。

目的：与杂合子型和野生型相比，评估 45 岁以下亚甲基四氢叶酸还原酶（MTHFR）C667T 基因型携带者首次视网膜中央静脉闭塞（CRVO）的年龄，并确定预测 CRVO 年龄的因素：回顾性队列研究包括 18 名 MTHFR TT、23 名 MTHFR TC 和 28 名 MTHFR CC 参与者；收集有关年龄、性别、CRVO 年龄、血脂异常史、高血压、吸烟和通过免疫测定测量血浆 HC 的信息：MTHFR TT 患 CRVO 时的年龄低于 MTHFR TC 和 CC（分别为 32 ± 6 vs 38 ± 5 vs 37 ± 6 岁，p = 0.005）；MTHFR TT 的血浆 HC 高于其他基因型[14.4 (10.8, 19.6) vs 10.4 ((8.6,12.5) vs 8.5 ((7.5,9.8) μmol/l，p = 0.0002]。吸烟（香烟/天）可独立预测CRVO的年龄（p = 0.039）和血浆HC（p = 0.005）；吸烟状态（是/否）可预测缺血性CRVO（p = 0.01），而缺血性CRVO在MTHFR TT组更常见（p = 0.006）：结论：年龄小于 45 岁的 MTHFR TT 基因型携带者比 MTHFR CC 基因型携带者平均早 5 年出现第一次 CRVO；吸烟会导致 MTHFR TT 携带者 CRVO 的早产和严重程度。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Ophthalmic Genetics 医学-眼科学

CiteScore

2.40

自引率

8.30%

发文量

126

审稿时长

>12 weeks

期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.