title: Influence of smoking, hypertension, and sex on the phenotypic expression of familial intracranial aneurysms in siblings.
abstract: OBJECTIVE
  To investigate the effects of smoking, hypertension, and sex on the phenotypic expression of familial intracranial aneurysms (FIAs).
  
  
  METHODS
  We retrospectively reviewed the case records of 806 consecutive patients undergoing aneurysm surgery at our institution (1986-1995) and discovered 24 families with at least two affected siblings. Prevalence rates for the smoking, hypertension, and sex risk factors in these nuclear families were compared with those of patients with sporadic intracranial aneurysms (SIAs) and population-based control patients.
  
  
  RESULTS
  Affected family members with FIAs exhibited prevalence rates of smoking and hypertension (74% and 43%, respectively) that tended to be higher than those of population-based control patients (52% [P < 0.005] and 36% [P = not significant (NS)], respectively) and comparable to those of patients with SIAs (64% [P = NS] and 40% [P = NS], respectively). A positive association existed between FIA formation and female sex but was somewhat less strong than that observed in the SIAs (59% FIAs, 71% SIAs, 50% control patients). In addition, the prevalence rates of smoking, hypertension, and female sex were higher in affected family members with FIAs than in their unaffected siblings (58% [P < 0.05], 28% [P = 0.06], and 39% [P < 0.05], respectively). Individuals in families with expressed FIAs who had high aneurysmal penetrance had a greater tendency to be smokers, hypertensive, and female (74%, 59%, and 55%, respectively) than did their low-penetrance counterparts (61% [P = 0.1], 27% [P < 0.05], and 45% [P = NS], respectively).
  
  
  CONCLUSIONS
  Together these data suggest that hypertension, smoking, and female sex increase the likelihood that a member of a family with an expressed FIA will have an aneurysm. These observations may prove helpful in guiding the use of screening studies and encouraging education about the potential risks of continued tobacco use and untreated hypertension in this patient cohort.
authors.affiliation: Department of Neurological Surgery, College of Physicians and Surgeons, Columbia University, New York, New York 10032-3784, USA. esc5@columbia.edu
authors.forename: E S
authors.initials: ES
authors.lastname: Connolly
authors.forename: T F
authors.initials: TF
authors.lastname: Choudhri
authors.forename: W J
authors.initials: WJ
authors.lastname: Mack
authors.forename: J
authors.initials: J
authors.lastname: Mocco
authors.forename: T J
authors.initials: TJ
authors.lastname: Spinks
authors.forename: J
authors.initials: J
authors.lastname: Slosberg
authors.forename: T
authors.initials: T
authors.lastname: Lin
authors.forename: J
authors.initials: J
authors.lastname: Huang
authors.forename: R A
authors.initials: RA
authors.lastname: Solomon
mesh_terms: D015331:Cohort Studies; D005260:Female; D006801:Humans; D006973:Hypertension / Q000150:complications* / Q000453:epidemiology; D002532:Intracranial Aneurysm / Q000150:complications* / Q000235:genetics* / Q000601:surgery; D016013:Likelihood Functions; D008297:Male; D010641:Phenotype; D015995:Prevalence; D012189:Retrospective Studies; D012727:Sex Characteristics; D017678:Sex Distribution; D012907:Smoking / Q000009:adverse effects* / Q000453:epidemiology