title: Mutation T/C,Ile 131 of the gene encoding the alfa subunit of the human Gs protein and predisposition to vasovagal syncope.
abstract: BACKGROUND
  Mutation T/C inside codon 131 of the gene encoding the alpha subunit of Gs protein (GNAS1) causes the increased activation of adenyl cyclase, which plays an important role in cardiovascular regulation. The aim of the present study was to evaluate GNAS1 T/C,Ile 131 mutation's manifestation in syncopal patients regarding head-up tilt test (HUTT) results.
  
  
  RESULTS
  In 137 syncopal patients (without any other diseases) the silent T/C,Ile 131 mutation within the GNAS1 codon on chromosome 20 q was identified. This mutation consists of the presence (+) or absence (-) of a target site for endonuclease FokI (Promega). Ninety-six patients (70%) with positive HUTT had a higher FokI+ allele frequency compared with those with negative tilting results (49% vs 27%, X(2)=12.05; p<0.001). In positive tilted patients, the studied mutation had significant influence on blood pressure (p<0.05). When comparing positive HUTT with vasodepressore component, cardioinhibition results and negative HUTT, the frequencies of the FokI+ allele were decreased among these groups: 53%, 36% and 27%, respectively.
  
  
  CONCLUSIONS
  An association between positive tilting and mutation C/T,Ile 131 within the GNAS1 codon was found. The predisposition to vasovagal syncope seems to be associated with the GNAS1 FokI+ allele.
authors: Department of Cardiology, I Chair of Cardiology and Cardiac Surgery, Medical University of Lodz, Sterling Str. 1/3, 91-425 Lodz, Poland. mlelonek@poczta.fm
authors: Malgorzata
authors: M
authors: Lelonek
authors: Tadeusz
authors: T
authors: Pietrucha
authors: Monika
authors: M
authors: Matyjaszczyk
authors: Jan Henryk
authors: JH
authors: Goch
mesh_terms: D000328:Adult; D001483:Base Sequence; D001794:Blood Pressure / Q000235:genetics; D002864:Chromogranins; D003062:Codon / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D019462:Syncope, Vasovagal / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D018667:Tilt-Table Test
chemical_list: D002864:Chromogranins; D003062:Codon; D017931:DNA Primers; D007532:Isoleucine; C035042:endodeoxyribonuclease FokI; D015252:Deoxyribonucleases, Type II Site-Specific; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs