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常见的 CD36(脂肪酸转运蛋白)基因突变与左心室质量相关。

Common variation in the CD36 (fatty acid translocase) gene is associated with left-ventricular mass.

机构信息

Institute of Human Genetics, Newcastle University, UK.

出版信息

J Hypertens. 2011 Apr;29(4):690-5. doi: 10.1097/HJH.0b013e3283440115.

Abstract

AIMS

Genetic variation in the fatty acid translocase (CD36) gene has been shown in animal models to affect several risk factors for the development of left-ventricular hypertrophy, but this phenotype has not, thus far, been investigated in humans. We examined the relationship between common genetic polymorphisms in the CD36 gene and left-ventricular mass.

METHODS AND RESULTS

We studied a cohort of 255 families comprising 1425 individuals ascertained via a hypertensive proband. Seven single-nucleotide polymorphisms which together tagged common genetic variation in the CD36 gene were genotyped using a SEQUENOM MALDI-TOF instrument. There was evidence of association between the rs1761663 polymorphism in intron 1 of the CD36 gene and left-ventricular mass determined either by echocardiography (P=0.003, N=780) or electrocardiography (P=0.001, N=814). There was also association between rs1761663 genotype and body mass index (P<0.001, N=1354). Genotype was associated with between 2 and 8% differences in these phenotypes per allele. After adjustment for the effect of body mass index, there remained significant associations between genotype and left ventricular mass measured either by echo (P=0.017) or ECG (P=0.007).

CONCLUSIONS

Genotype at the rs1761663 polymorphism has independent effects both on body mass index and left-ventricular mass. Genes with such pleiotropic effects may be particularly attractive therapeutic targets for interventions to modify multiple risk factors for cardiovascular events.

摘要

目的

脂肪酸转运蛋白(CD36)基因的遗传变异在动物模型中已被证明会影响左心室肥厚发展的几个风险因素,但迄今为止尚未在人类中研究过这种表型。我们研究了 CD36 基因常见遗传多态性与左心室质量之间的关系。

方法和结果

我们通过高血压先证者对包含 1425 名个体的 255 个家族进行了研究。使用 SEQUENOM MALDI-TOF 仪器对 CD36 基因中 7 个单核苷酸多态性进行了基因分型,这些多态性共同标记了 CD36 基因的常见遗传变异。CD36 基因内含子 1 中的 rs1761663 多态性与超声心动图(P=0.003,N=780)或心电图(P=0.001,N=814)确定的左心室质量之间存在关联。rs1761663 基因型与体重指数(P<0.001,N=1354)之间也存在关联。每个等位基因的基因型与这些表型之间的差异为 2%至 8%。在调整体重指数的影响后,基因型与通过回声(P=0.017)或 ECG(P=0.007)测量的左心室质量之间仍然存在显著关联。

结论

rs1761663 多态性的基因型对体重指数和左心室质量都有独立的影响。具有这种多效性效应的基因可能是干预以改变心血管事件多种风险因素的特别有吸引力的治疗靶点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1411/4454277/4f3deb46a50c/emss-63536-f0001.jpg

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