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心血管疾病相关性状潜在共同因素的遗传分析。

Genetic analysis of common factors underlying cardiovascular disease-related traits.

作者信息

Liu Xiao-Qing, Hanley Anthony J G, Paterson Andrew D

机构信息

Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

出版信息

BMC Genet. 2003 Dec 31;4 Suppl 1(Suppl 1):S56. doi: 10.1186/1471-2156-4-S1-S56.

DOI:10.1186/1471-2156-4-S1-S56
PMID:14975124
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1866493/
Abstract

BACKGROUND

Cardiovascular disease-related traits, such as body mass index (BMI), systolic blood pressure (SBP), triglycerides (TG), total cholesterol (TC), high-density lipoprotein cholesterol (HDL), and glucose levels (GLUC), have moderate to high correlations with each other. We hypothesized that there might be some common factors underlying the correlations of these traits, and attempted to identify these factors and their genetic structures. Cross-sectional measurements from the 330 extended Framingham Heart Study families were used in this study. Principal component factor analysis was applied to obtain the factors that were then analyzed using variance components linkage analysis.

RESULTS

With the above six traits three factors were generated: BMI-SBP-GLUC, HDL-TG, and TC-TG. The heritabilities for these factors were 32%, 45%, and 49%, respectively. Comparing the linkage results of the factors with the results of their component traits, evidence for linkage was observed for the TC-TG factor to a locus on chromosome 2p23 with a two-point LOD score 2.73 (marker GATA8F07) and a multipoint LOD score 1.81 (at 54 cM), while the LOD scores for TC and TG did not exceed 1 at this region.

CONCLUSION

Our analysis showed a locus on chromosome 2 might have a pleiotropic effect on the cardiovascular disease-related traits TC and TG.

摘要

背景

心血管疾病相关特征,如体重指数(BMI)、收缩压(SBP)、甘油三酯(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL)和血糖水平(GLUC),相互之间存在中度到高度的相关性。我们假设这些特征的相关性可能存在一些共同因素,并试图识别这些因素及其遗传结构。本研究使用了来自330个扩展的弗雷明汉心脏研究家族的横断面测量数据。应用主成分因子分析来获得这些因子,然后使用方差成分连锁分析对其进行分析。

结果

利用上述六个特征生成了三个因子:BMI-SBP-GLUC、HDL-TG和TC-TG。这些因子的遗传力分别为32%、45%和49%。将因子的连锁结果与其组成特征的结果进行比较,发现TC-TG因子在染色体2p23上的一个位点存在连锁证据,两点LOD分数为2.73(标记GATA8F07),多点LOD分数为1.81(在54 cM处),而该区域TC和TG的LOD分数未超过1。

结论

我们的分析表明,染色体2上的一个位点可能对心血管疾病相关特征TC和TG具有多效性作用。

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