title: 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.
  
  
  CONCLUSIONS
  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.affiliation: Department of Medicine, Copenhagen University Hospital Glostrup, DK-2600 Glostrup, Denmark. jj@heart.dk
authors.forename: Jørgen
authors.initials: J
authors.lastname: Jeppesen
authors.forename: Nikolaj D
authors.initials: ND
authors.lastname: Berg
authors.forename: Christian
authors.initials: C
authors.lastname: Torp-Pedersen
authors.forename: Tine W
authors.initials: TW
authors.lastname: Hansen
authors.forename: Allan
authors.initials: A
authors.lastname: Linneberg
authors.forename: Mogens
authors.initials: M
authors.lastname: Fenger
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D007438:Introns; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D011446:Prospective Studies; D055815:Young Adult; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines