Leo A.J. Kluijtmans , Godfried H.J. Boers , Frans J.M. Trijbels , Henriëtte M.A. van Lith-Zanders , Lambert P.W.J. van den Heuvel , Henk J. Blom
{"title":"半胱硫氨酸β-合成酶基因中常见的844INS68插入变异","authors":"Leo A.J. Kluijtmans , Godfried H.J. Boers , Frans J.M. Trijbels , Henriëtte M.A. van Lith-Zanders , Lambert P.W.J. van den Heuvel , Henk J. Blom","doi":"10.1006/bmme.1997.2623","DOIUrl":null,"url":null,"abstract":"<div><p>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 β-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.</p></div>","PeriodicalId":8837,"journal":{"name":"Biochemical and molecular medicine","volume":"62 1","pages":"Pages 23-25"},"PeriodicalIF":0.0000,"publicationDate":"1997-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1006/bmme.1997.2623","citationCount":"70","resultStr":"{\"title\":\"A Common 844INS68 Insertion Variant in the Cystathionine β-Synthase Gene\",\"authors\":\"Leo A.J. Kluijtmans , Godfried H.J. Boers , Frans J.M. Trijbels , Henriëtte M.A. van Lith-Zanders , Lambert P.W.J. van den Heuvel , Henk J. Blom\",\"doi\":\"10.1006/bmme.1997.2623\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>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 β-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.</p></div>\",\"PeriodicalId\":8837,\"journal\":{\"name\":\"Biochemical and molecular medicine\",\"volume\":\"62 1\",\"pages\":\"Pages 23-25\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1997-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1006/bmme.1997.2623\",\"citationCount\":\"70\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Biochemical and molecular medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1077315097926235\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biochemical and molecular medicine","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1077315097926235","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A Common 844INS68 Insertion Variant in the Cystathionine β-Synthase Gene
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 β-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.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
