Fibrillin-1 genotype and risk of prevalent hypertension: a study in two independent populations.

Abstract

OBJECTIVE:

Mutations in the fibrillin-1 gene are the cause of Marfan syndrome. We wanted to investigate the relationship between a mutation in this gene and risk of prevalent hypertension.

METHODS:

In a cross-sectional study, the effect of a G-A substitution in intron 27 in the fibrillin-1 gene (rs11856553) on risk of prevalent hypertension was studied in two large population-based studies: the Health 2006 study, consisting of 3193 women and men, age 18-69 years, and the MONICA10 study, consisting of 2408 women and men, age 41-72 years. In 1646 MONICA10 participants, blood pressure (BP) was also measured by 24-h ambulatory recordings.

RESULTS:

Among the 3193 Health 2006 participants 23 had the G-A variant, and among the 2408 MONICA10 participants 18 had the G-A variant. In Health 2006, the odds ratio estimate (95% confidence intervals) for the G-A variant for risk of hypertension, defined as systolic (S) BP ≥ 140 mmHg or diastolic (D) BP ≥ 90 mmHg or on antihypertensive medicine, was 2.67 (1.14-6.18), p = 0.022. The corresponding figure for moderate to severe hypertension, defined as SBP ≥ 160 mmHg or DBP ≥ 100 mmHg, was 9.68 (4.24-22.12), p < 0.0001. In MONICA10, the odds ratio estimate (95% confidence intervals) for the G-A variant for risk of moderate to severe ambulatory hypertension, defined as 24-h mean SBP ≥ 150 mmHg or 24-h mean DBP ≥ 90 mmHg, was 5.73 (1.96-16.7), p = 0.0014.

CONCLUSION:

The G-A substitution in the fibrillin-1 gene (rs11856553) is a rare genetic variant that is associated with an increased risk of prevalent hypertension, particularly of moderate to severe prevalent hypertension.

• Authors: Jørgen Jeppesen, Nikolaj D Berg, Christian Torp-Pedersen, Tine W Hansen, Allan Linneberg, Mogens Fenger
• Journal: Blood pressure (Blood Press) Vol. 21 Issue 5 Pg. 273-80 (Oct 2012) ISSN: 1651-1999 [Electronic] England
• PMID: 22545955 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• FBN1 protein, human
• Fibrillin-1
• Fibrillins
• Microfilament Proteins

Topics

• Adolescent
• Adult
• Aged
• Female
• Fibrillin-1
• Fibrillins
• Genetic Predisposition to Disease
• Genotype
• Humans
• Hypertension (diagnosis, genetics, metabolism)
• Introns
• Male
• Microfilament Proteins (genetics)
• Middle Aged
• Polymorphism, Single Nucleotide
• Prevalence
• Prospective Studies
• Young Adult