A common 844INS68 insertion variant in the cystathionine beta-synthase gene

被引：65

作者：

Kluijtmans, LAJ ^{[1
]}

Boers, GHJ ^{[1
]}

Trijbels, FJM ^{[1
]}

vanLithZanders, HMA ^{[1
]}

vandenHeuvel, LPWJ ^{[1
]}

Blom, HJ ^{[1
]}

机构：

[1] UNIV NIJMEGEN HOSP,DEPT INTERNAL MED,NL-6500 HB NIJMEGEN,NETHERLANDS

来源：

BIOCHEMICAL AND MOLECULAR MEDICINE | 1997年 / 62卷 / 01期

关键词：

cystathionine beta-synthase; insertion variant; homocysteine; vascular disease; alternative splicing; genetic marker;

D O I：

10.1006/bmme.1997.2623

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Mildly elevated plasma homocysteine has been shown to be associated with an elevated risk for cardiovascular disease. In this study, we analyzed the frequency of a common 844ins68 insertion variant in the cystathionine beta-synthase gene (CBS) in patients with arterial occlusive disease and in controls and assessed the association between the insertion variant and plasma homocysteine concentrations. The insertion variant was equally distributed between both study groups. Furthermore, the presence of this insertion variant, either in the heterozygous or the homozygous state, is not associated with hyperhomocysteinemia. We therefore conclude that this common 844ins68 variant is a neutral insertion variant. (C) 1997 Academic Press.

引用

页码：23 / 25

页数：3

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