title: Genetic predisposition to breath-hold diving-induced hemoptysis: Preliminary study.
abstract: BACKGROUND
  Breath-hold diving-induced hemoptysis (BH-DIH) has been reported in about 25% breath-hold divers (BHD) and is characterized by dyspnea, coughing, hemoptysis and chest pain. We investigated whether eNOS G894T, eNOS T786C and ACE insertion/deletion I/D genetic variants, are possible BH-DIH risk factors.
  
  
  METHODS
  108 experienced healthy instructor BHDs with the same minimum requirements (102 male, six female; mean age 43.90 ± 7.49) were studied. We looked for different eNOS G894T, eNOS T786C and ACE insertion/ deletion genetic variants between BH-DIH-positive and BH-DIH-negative subjects to identify the variants most frequently associated with BH-DIH.
  
  
  RESULTS
  At least one BH-DIH episode was reported by 22.2% of subjects, while 77.7% never reported BH-DIH. The majority of BH-DIH-positive subjects showed eNOS G894T (p = 0.001) and eNOS-T786C (p = 0.001) genotype "TT" (high-risk profile). Prevalence of BH-DIH was higher in subjects with eNOS G894T TT genotype (50%) than in subjects with GT (9.5%, p < 0.001) and GG (24%, (p = 0.0002) genotype (low-risk profile). Similar results were observed for eNOS T786C: BH-DIH prevalence was higher in the TT genotype (41.2%) group than in the CT (15.4%, p < 0.001) and CC genotype (9.1%, p < 0.001) groups. BH-DIH prevalence was significantly higher in subjects showing ACE ID genotype (34.5%) than II (0%, p < 0.001) and DD (10.5%, p = 0.0002). Of the ACE "II" genotype group, 100% never developed BH-DIH.
  
  
  CONCLUSIONS
  eNOS-G894T, eNOS-T786C and ACE influence NO availability and regulation of peripheral vascular tone and blood flow. Different genetic variants of eNOS-G894T, eNOS-T786C and ACE appear significantly related to the probability to develop BH-DIH (p < 0.001).
authors.forename: Danilo
authors.initials: D
authors.lastname: Cialoni
authors.forename: Claudio
authors.initials: C
authors.lastname: Marabotti
authors.forename: Nicola
authors.initials: N
authors.lastname: Sponsiello
authors.forename: Massimo
authors.initials: M
authors.lastname: Pieri
authors.forename: Costantino
authors.initials: C
authors.lastname: Balestra
authors.forename: Vittorio
authors.initials: V
authors.lastname: Lucchini
authors.forename: Alessandro
authors.initials: A
authors.lastname: Marroni
mesh_terms: D000328:Adult; D062485:Breath Holding / Q000235:genetics*; D004242:Diving / Q000009:adverse effects*; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006469:Hemoptysis / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III; D007703:Peptidyl-Dipeptidase A