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。

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

摘要

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

Purpose: To assess age at 1st 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 1st 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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来源期刊
Ophthalmic Genetics
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.
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