自发性颈内动脉夹层和动脉粥样硬化性血栓形成性卒中的年轻成人血浆同型半胱氨酸浓度、C677T MTHFR基因型和844ins68bp CBS基因型

Plasma homocysteine concentration, C677T MTHFR genotype, and 844ins68bp CBS genotype in young adults with spontaneous cervical artery dissection and atherothrombotic stroke.

作者信息

Pezzini Alessandro, Del Zotto Elisabetta, Archetti Silvana, Negrini Riccardo, Bani Paolo, Albertini Alberto, Grassi Mario, Assanelli Deodato, Gasparotti Roberto, Vignolo Luigi Amedeo, Magoni Mauro, Padovani Alessandro

机构信息

Clinica Neurologica, Università degli Studi di Brescia, Brescia, Italia.

出版信息

Stroke. 2002 Mar;33(3):664-9. doi: 10.1161/hs0302.103625.

DOI:10.1161/hs0302.103625

PMID:11872884

Abstract

BACKGROUND AND PURPOSE

The role of mild hyperhomocysteinemia as a risk factor for cerebral ischemia may depend on stroke subtype. To test this hypothesis, we undertook a prospective case-control study of a group of patients with spontaneous cervical artery dissection (sCAD), a group of patients with atherothrombotic stroke (non-CAD), and a group of control subjects.

METHODS

Fasting total plasma homocysteine (tHcy) concentration, C677T MTHFR genotype, and 844ins68bp CBS genotype were determined in 25 patients with sCAD, 31 patients <45 years of age with non-CAD ischemic stroke, and 36 control subjects. Biochemical data in the patient groups were obtained within the first 72 hours of stroke onset.

RESULTS

Median tHcy levels were significantly higher in patients with sCAD (13.2 micromol/L; range, 7 to 32.8 micromol/L) compared with control subjects (8.9 micromol/L; range, 5 to 17.3 micromol/L; 95% CI, 1.05 to 1.52; P=0.006). Cases with tHcy concentration above the cutoff level of 12 micromol/L were significantly more represented in the group of patients with sCAD compared with control subjects (64% versus 13.9%; 95% CI, 2.25 to 44.23; P=0.003); a significant association between the MTHFR TT genotype and sCAD was also observed (36% versus 11.1%; 95% CI, 1.10 to 19.23; P=0.045). No significant difference in tHcy levels and in the prevalence of thermolabile MTHFR was found between patients with non-CAD ischemic stroke and control subjects and between patients with sCAD and non-CAD ischemic stroke. The distribution of the 844ins68bp CBS genotype and the prevalence of subjects carrying both the TT MTHFR and 844ins68bp CBS genotypes were not significantly different among the 3 groups.

CONCLUSIONS

Our results are consistent with the hypothesis that increased plasma homocysteine levels and the TT MTHFR genotype may represent risk factors for sCAD. In contrast, their role in atherothrombotic strokes remains a contentious issue.

摘要

背景与目的

轻度高同型半胱氨酸血症作为脑缺血危险因素的作用可能取决于卒中亚型。为验证这一假说，我们对一组自发性颈动脉夹层（sCAD）患者、一组动脉粥样硬化血栓形成性卒中（非CAD）患者及一组对照者进行了一项前瞻性病例对照研究。

方法

测定了25例sCAD患者、31例年龄＜45岁的非CAD缺血性卒中患者及36例对照者的空腹血浆总同型半胱氨酸（tHcy）浓度、C677T亚甲基四氢叶酸还原酶（MTHFR）基因型及844ins68bp胱硫醚β合成酶（CBS）基因型。患者组的生化数据在卒中发作后的头72小时内获取。

结果

与对照者（8.9 μmol/L；范围5至17.3 μmol/L；95%CI，1.05至1.52；P = 0.006）相比，sCAD患者的tHcy中位数水平显著更高（13.2 μmol/L；范围7至32.8 μmol/L）。tHcy浓度高于临界值12 μmol/L的病例在sCAD患者组中的占比显著高于对照者（64%对13.9%；95%CI，2.25至44.23；P = 0.003）；还观察到MTHFR TT基因型与sCAD之间存在显著关联（36%对11.1%；95%CI，1.10至19.23；P = 0.045）。在非CAD缺血性卒中患者与对照者之间以及sCAD患者与非CAD缺血性卒中患者之间，tHcy水平及不耐热MTHFR的患病率均未发现显著差异。3组之间844ins68bp CBS基因型的分布以及同时携带TT MTHFR和844ins68bp CBS基因型的受试者的患病率均无显著差异。