视网膜静脉阻塞、同型半胱氨酸与亚甲基四氢叶酸还原酶基因型

Retinal vein occlusion, homocysteine, and methylene tetrahydrofolate reductase genotype.

作者信息

McGimpsey Stuart J, Woodside Jayne V, Bamford Louise, Gilchrist Sarah E C M, Graydon Ryan, McKeeman Gareth C, Young Ian S, Hughes Anne E, Patterson Chris C, O'Reilly Dermot, McGibbon David, Chakravarthy Usha

机构信息

Department of Ophthalmology, Royal Group of Hospitals, Belfast, Ireland, United Kingdom.

出版信息

Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4712-6. doi: 10.1167/iovs.04-1229.

DOI:10.1167/iovs.04-1229

PMID:16303969

Abstract

PURPOSE

The aim of this case-control study was to investigate the relationship between homocysteine (tHcy), 5,10 methylene tetrahydrofolate reductase (MTHFR) C677T genotype, folate and vitamin B12 status, and retinal vein occlusion (RVO).

METHODS

Subjects with RVO (n = 106) were recruited from outpatient and inpatient sources. Controls (n = 98) were selected to achieve a similar age and sex distribution. Full ocular examination was performed and medical history was taken for each study participant. Plasma and serum samples were analyzed for tHcy level and folate and vitamin B12 status, and extracted DNA was assessed for the MTHFR C677T genotype.

RESULTS

There was no significant difference in plasma tHcy level or thermolabile MTHFR allele frequency between subjects and controls. Similarly, there was no significant difference in folate or vitamin B12 status between subjects and controls. MTHFR genotype did not affect folate or vitamin B12 concentrations in subjects or controls. However, tHcy was significantly higher in thermolabile homozygotes than in nonthermolabile homozygotes (ratio of geometric means, 1.35; 95% confidence interval [CI], 1.04-1.74; P = 0.024).

CONCLUSIONS

Hyperhomocysteinemia, the MTHFR C677T mutation, and folate and vitamin B12 status are not important risk factors for RVO in this population.

摘要

目的

本病例对照研究旨在调查同型半胱氨酸（总同型半胱氨酸，tHcy）、5,10亚甲基四氢叶酸还原酶（MTHFR）C677T基因型、叶酸和维生素B12状态与视网膜静脉阻塞（RVO）之间的关系。

方法

从门诊和住院患者中招募RVO患者（n = 106）。选择对照组（n = 98）以实现相似的年龄和性别分布。对每位研究参与者进行全面的眼部检查并记录病史。分析血浆和血清样本中的tHcy水平、叶酸和维生素B12状态，并对提取的DNA进行MTHFR C677T基因型评估。

结果

患者和对照组之间的血浆tHcy水平或不耐热MTHFR等位基因频率无显著差异。同样，患者和对照组之间的叶酸或维生素B12状态也无显著差异。MTHFR基因型不影响患者或对照组中的叶酸或维生素B12浓度。然而，不耐热纯合子中的tHcy显著高于非不耐热纯合子（几何均数比为1.35；95%置信区间[CI]，1.04 - 1.74；P = 0.024）。