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. 1997 Oct;78(4):396–398. doi: 10.1136/hrt.78.4.396

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

J Powell 1, R Turner 1, A Henney 1, G Miller 1, S Humphries 1
PMCID: PMC1892276  PMID: 9404258

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.

 Keywords: blood pressure;  fibrillin;  pulse pressure

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Figure 1  .

Figure 1  

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The use of capillary electrophoresis to analyse the TAAAA repeat in intron 28 of the fibrillin-1 gene. The three most common genotypes 2-2 (171 bp), 2-3 (166, 171 bp), and 2-4 (161 and 171 bp) are shown, flanked by markers at 104, 124, 184, and 192 bp.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bader H. Importance of the gerontology of elastic arteries in the development of essential hypertension. Clin Physiol Biochem. 1983;1(1):36–56. [PubMed] [Google Scholar]
  2. Deng A. Y., Dene H., Rapp J. P. Mapping of a quantitative trait locus for blood pressure on rat chromosome 2. J Clin Invest. 1994 Jul;94(1):431–436. doi: 10.1172/JCI117341. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Dubay C., Vincent M., Samani N. J., Hilbert P., Kaiser M. A., Beressi J. P., Kotelevtsev Y., Beckmann J. S., Soubrier F., Sassard J. Genetic determinants of diastolic and pulse pressure map to different loci in Lyon hypertensive rats. Nat Genet. 1993 Apr;3(4):354–357. doi: 10.1038/ng0493-354. [DOI] [PubMed] [Google Scholar]
  4. Francke U., Berg M. A., Tynan K., Brenn T., Liu W., Aoyama T., Gasner C., Miller D. C., Furthmayr H. A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Am J Hum Genet. 1995 Jun;56(6):1287–1296. [PMC free article] [PubMed] [Google Scholar]
  5. Lee B., Godfrey M., Vitale E., Hori H., Mattei M. G., Sarfarazi M., Tsipouras P., Ramirez F., Hollister D. W. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature. 1991 Jul 25;352(6333):330–334. doi: 10.1038/352330a0. [DOI] [PubMed] [Google Scholar]
  6. MacSweeney S. T., Skidmore C., Turner R. J., Sian M., Brown L., Henney A. M., Greenhalgh R. M., Powell J. T. Unravelling the familial tendency to aneurysmal disease: popliteal aneurysm, hypertension and fibrillin genotype. Eur J Vasc Endovasc Surg. 1996 Aug;12(2):162–166. doi: 10.1016/s1078-5884(96)80101-8. [DOI] [PubMed] [Google Scholar]
  7. MacSweeney S. T., Young G., Greenhalgh R. M., Powell J. T. Mechanical properties of the aneurysmal aorta. Br J Surg. 1992 Dec;79(12):1281–1284. doi: 10.1002/bjs.1800791211. [DOI] [PubMed] [Google Scholar]
  8. Nakamura Y., Leppert M., O'Connell P., Wolff R., Holm T., Culver M., Martin C., Fujimoto E., Hoff M., Kumlin E. Variable number of tandem repeat (VNTR) markers for human gene mapping. Science. 1987 Mar 27;235(4796):1616–1622. doi: 10.1126/science.3029872. [DOI] [PubMed] [Google Scholar]
  9. Pereira L., Levran O., Ramirez F., Lynch J. R., Sykes B., Pyeritz R. E., Dietz H. C. A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome. N Engl J Med. 1994 Jul 21;331(3):148–153. doi: 10.1056/NEJM199407213310302. [DOI] [PubMed] [Google Scholar]
  10. Safar M. E. Pulse pressure in essential hypertension: clinical and therapeutical implications. J Hypertens. 1989 Oct;7(10):769–776. doi: 10.1097/00004872-198910000-00001. [DOI] [PubMed] [Google Scholar]
  11. Zhang H., Hu W., Ramirez F. Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. J Cell Biol. 1995 May;129(4):1165–1176. doi: 10.1083/jcb.129.4.1165. [DOI] [PMC free article] [PubMed] [Google Scholar]

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