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Unravelling the familial tendency to aneurysmal disease: popliteal aneurysm, hypertension and fibrillin genotype.揭示动脉瘤性疾病的家族倾向:腘动脉瘤、高血压与原纤蛋白基因型
Eur J Vasc Endovasc Surg. 1996 Aug;12(2):162-6. doi: 10.1016/s1078-5884(96)80101-8.
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Mapping of a quantitative trait locus for blood pressure on rat chromosome 2.大鼠2号染色体上血压数量性状位点的定位
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A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.一种针对马凡氏综合征家族心血管风险分层的分子方法。
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Genetic determinants of diastolic and pulse pressure map to different loci in Lyon hypertensive rats.
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A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.原纤维蛋白-1基因的表皮生长因子样结构域中的Gly1127Ser突变是升主动脉瘤和主动脉夹层的一个危险因素。
Am J Hum Genet. 1995 Jun;56(6):1287-96.
6
Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils.原纤蛋白基因的发育表达表明细胞外微原纤维具有异质性。
J Cell Biol. 1995 May;129(4):1165-76. doi: 10.1083/jcb.129.4.1165.
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Importance of the gerontology of elastic arteries in the development of essential hypertension.
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Pulse pressure in essential hypertension: clinical and therapeutical implications.原发性高血压中的脉压:临床及治疗意义
J Hypertens. 1989 Oct;7(10):769-76. doi: 10.1097/00004872-198910000-00001.
10
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.马凡综合征及一种表型相关疾病与两个不同的原纤维蛋白基因的连锁关系。
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动脉脉压与原纤蛋白-1基因变异之间的关联。

An association between arterial pulse pressure and variation in the fibrillin-1 gene.

作者信息

Powell J T, Turner R J, Henney A M, Miller G J, Humphries S E

机构信息

Cardiovascular and Pulmonary Research Division, Charing Cross and Westminster Medical School, London, UK.

出版信息

Heart. 1997 Oct;78(4):396-8. doi: 10.1136/hrt.78.4.396.

DOI:10.1136/hrt.78.4.396
PMID:9404258
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1892276/
Abstract

OBJECTIVE

To investigate whether variation in the fibrillin-1 gene was associated with blood pressure in healthy middle aged men, as had been observed in patients with abdominal aortic aneurysm.

DESIGN, SETTING, AND PATIENTS: Middle aged men (n = 245), aged 50 to 61 years, were recruited from one of the nine general practices participating in the second Northwick Park heart study. Blood samples were obtained for the preparation of genomic DNA and analysis of plasma variables.

MAIN OUTCOME MEASURES

Systolic, diastolic, and pulse pressures; fibrillin-1 genotype characterised with a four allele variable tandem nucleotide repeat polymorphism in intron 28.

RESULTS

In healthy middle aged men only three common genotypes were observed: 2-2 (frequency 54.1%), 2-3 (16%) and 2-4 (15%). The mean arterial systolic (and pulse) pressure varied according to fibrillin-1 genotype: 2-4 genotype, 126-3 (47.6) mm Hg; 2-2 genotype, 131.0 (51.3) mm Hg; and 2-3 genotype, 135.5 (54.2) mm Hg. The median pulse pressure was 50 mm Hg. Distribution of men around the median pulse pressure, according to genotype, showed a significant trend for patients of 2-4 genotype to have the lowest pulse pressures, those of 2-2 genotype to have intermediate pressures, and those of 2-3 genotype to have the highest pulse pressures (p = 0.003 for healthy men).

CONCLUSIONS

There appears to be a significant association between fibrillin-1 genotype and arterial pulse pressure in men aged 50 to 61 years.

摘要

目的

探讨原纤蛋白-1基因变异是否与健康中年男性的血压相关,这在腹主动脉瘤患者中已观察到。

设计、地点和患者:从参与第二次诺斯威克公园心脏研究的9家全科诊所之一招募了年龄在50至61岁的中年男性(n = 245)。采集血样以制备基因组DNA并分析血浆变量。

主要观察指标

收缩压、舒张压和脉压;原纤蛋白-1基因型通过内含子28中的四等位基因可变串联核苷酸重复多态性进行表征。

结果

在健康中年男性中仅观察到三种常见基因型:2-2(频率54.1%)、2-3(16%)和2-4(15%)。平均动脉收缩压(和脉压)根据原纤蛋白-1基因型而变化:2-4基因型,126.3(47.6)mmHg;2-2基因型,131.0(51.3)mmHg;2-3基因型,135.5(54.2)mmHg。脉压中位数为50 mmHg。根据基因型,男性围绕脉压中位数的分布显示,2-4基因型患者的脉压最低,2-2基因型患者的脉压中等,2-3基因型患者的脉压最高,存在显著趋势(健康男性p = 0.003)。

结论

在50至61岁男性中,原纤蛋白-1基因型与动脉脉压之间似乎存在显著关联。