Genetic background of Lewis negative blood group phenotype and its association with atherosclerotic disease in the NHLBI Family Heart Study
Genetic background of Lewis negative blood group phenotype and its association with atherosclerotic disease in the NHLBI Family Heart Study
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DOI：
10.1046/j.1365-2796.2000.00682.x
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发表时间：
2000-06-01
影响因子：
11.1
通讯作者：
Weston, BW
中科院分区：
文献类型：
--
作者：
Salomaa, V;Pankow, J;Weston, BW
目标.检测人α（1，3/1，4）岩藻糖基转移酶3（FUT 3）基因T59 G、T1067 A、T202 C和C314 T四种突变在刘易斯阴性和刘易斯阳性血型表型人群中的发生率。另一个目的是探索这些突变与冠心病和炎症反应相关的假设。一项基于人群的横断面研究。来自国家心肺和血液研究所家庭心脏研究的样本和数据分析。所有刘易斯（a-b-）参与者（n = 136）和家族心脏研究的刘易斯阳性参与者样本（n = 136）;所有人都是白人。主要结果测量。通过刘易斯表型检测突变的患病率。检测的突变是常见的，与刘易斯（a-b-）表型密切相关。因此，高加索人中90-95%的刘易斯（a-b-）个体可以通过筛选这四种突变来鉴定。探索性分析表明，除T59 G外，所有检测的突变均与冠心病患病率呈正相关，尽管在统计学上不显著，可能是由于冠心病患病率低。C-反应蛋白在202位具有TC或CC基因型的人中倾向于更高（3.07 +/- 0.41 vs. 2.08 +/- 0.32 mg L-1，P = 0.06）。岩藻糖基转移酶3基因的4种特异性突变是白种人中绝大多数刘易斯（a-b-）表型的原因。这些突变在人群中很常见，可能与冠心病风险增加有关。需要使用更大样本进行进一步研究。
Objectives. To examine the prevalence of four mutations, T59G, T1067A, T202C and C314T, of the human alpha(1,3/1,4) fucosyltransferase 3 (FUT 3) gene amongst persons with Lewis negative and those with Lewis positive blood group phenotype. An additional objective was to explore the hypothesis that these mutations are associated with coronary heart disease and inflammatory reaction.Design. A population-based cross-sectional study.Setting. Analysis of samples and data from the National Heart Lung and Blood Institute Family Heart Study.Subjects. All Lewis (a-b-) participants (n = 136) and a sample of Lewis positive participants (n = 136) of the Family Heart Study; all were of Caucasian ethnicity.Main outcome measures. The prevalence of examined mutations by Lewis phenotype.Results. The examined mutations were common and strongly associated with the Lewis (a-b-) phenotype. Accordingly, 90-95% of Lewis (a-b-) individuals amongst Caucasians can be identified by screening for these four mutations. Exploratory analyses suggested that with the exception of T59G, all examined mutations were positively associated with prevalent coronary heart disease, although not statistically significantly, perhaps due to the small number of prevalent coronary heart disease cases. C-reactive protein tended to be higher amongst persons with a TC or CC genotype at position 202 (3.07 +/- 0.41 vs. 2.08 +/- 0.32 mg L-1, P = 0.06).Conclusions. Four specific mutations of fucosyltransferase 3 gene are responsible for the vast majority of Lewis (a-b-) phenotypes in Caucasians. These mutations are common in the population at large and may be associated with increased risk of coronary heart disease. Further studies using larger samples are warranted.