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载脂蛋白B、载脂蛋白A I/C III和载脂蛋白E基因座DNA多态性对血脂的可变基因效应:年轻芬兰人心血管风险研究

Variability gene effects of DNA polymorphisms at the apo B, apo A I/C III and apo E loci on serum lipids: the Cardiovascular Risk in Young Finns Study.

作者信息

Porkka K V, Taimela S, Kontula K, Lehtimäki T, Aalto-Setälä K, Akerblom H K, Viikari J S

机构信息

Cardiorespiratory Research Unit, University of Turku, Finland.

出版信息

Clin Genet. 1994 Mar;45(3):113-21. doi: 10.1111/j.1399-0004.1994.tb04007.x.

DOI:10.1111/j.1399-0004.1994.tb04007.x
PMID:7913004
Abstract

We studied the influence of selected genetic markers on the intra-individual long-term variability in serum lipid levels. The study cohort consisted of a sub-sample from a large follow-up study of atherosclerosis precursors in children and young adults. A total of 320 subjects had determinations of apo B XbaI RFLP genotypes, 305 subjects had apo AI/CIII SstI RFLP genotype determinations and 1581 subjects had their apo E phenotypes determined. Complete data on serum lipids were available at 3-year intervals over a 6-year follow-up period. The subjects were healthy and aged 3-18 years at baseline. Intra-individual variability was assessed with a nested analysis of variance procedure. Each of the genetic markers studied here significantly affected intra-individual variability of serum lipid levels. No clear sex influence was observed, although the differences in variability tended to be more significant in males. Apo B XbaI genotypes significantly influenced intra-individual variability of total and LDL-cholesterol levels in both sexes. A marked effect of the XbaI genotype was also found on triglyceride variability. In males the standardized intra-individual triglyceride variances were 0.71 and 0.34 in genotypes X1X1 and X2X2, respectively (p < 0.001), with a clear gene dosage effect. The apo AI/CIII genotype had an influence only on the variability of total cholesterol and LDL-cholesterol levels and only in males. The apo E phenotypes were associated with intra-individual variability in total and LDL-cholesterol levels but again, only in males.(ABSTRACT TRUNCATED AT 250 WORDS)

摘要

我们研究了特定基因标记对血清脂质水平个体内长期变异性的影响。研究队列包括来自一项针对儿童和青年动脉粥样硬化前驱病变大型随访研究的一个子样本。共有320名受试者测定了载脂蛋白B XbaI限制性片段长度多态性(RFLP)基因型,305名受试者测定了载脂蛋白AI/CIII SstI RFLP基因型,1581名受试者确定了其载脂蛋白E表型。在6年随访期内,每隔3年可获得完整的血脂数据。受试者在基线时健康,年龄为3至18岁。个体内变异性采用嵌套方差分析程序进行评估。这里研究的每个基因标记都显著影响血清脂质水平的个体内变异性。未观察到明显的性别影响,尽管变异性差异在男性中往往更显著。载脂蛋白B XbaI基因型显著影响男女总胆固醇和低密度脂蛋白胆固醇水平的个体内变异性。还发现XbaI基因型对甘油三酯变异性有显著影响。在男性中,基因型X1X1和X2X2的标准化个体内甘油三酯方差分别为0.71和0.34(p<0.001),具有明显的基因剂量效应。载脂蛋白AI/CIII基因型仅对总胆固醇和低密度脂蛋白胆固醇水平的变异性有影响,且仅在男性中。载脂蛋白E表型与总胆固醇和低密度脂蛋白胆固醇水平的个体内变异性相关,但同样仅在男性中。(摘要截断于250字)

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