title: Transforming growth factor-beta1 gene C-509T and T869C polymorphisms as possible risk factors in rheumatic heart disease in Egypt.
abstract: OBJECTIVE
  The objective of this study was to investigate the possible relationship between the TGF-beta1 gene C-509T and T869C polymorphisms and rheumatic heart disease (RHD), as well as their clinical significance.
  
  
  METHODS
  Seventy-three patients with RHD diagnosed by echocardiography (mean age 31.7 +/- 14.7 y, male: female ratio 20:53) and, fifty-five age and sex-matched unrelated healthy volunteers (normal control) were included. Patients were classified according to age into children (n=24, mean age 14.4 +/- 3.1 y, and adults (n=49, mean age 40.2 +/- 9.9 y). TGF-beta genomic DNA was extracted and amplified using primers specific for C-509T and,T869C polymorphisms. Genotyping was performed by restriction fragment length polymorphism analysis (RFLP).
  
  
  RESULTS
  T869C TT genotype was found significantly more frequently in RHD (total population) (OR: 3.27; [95% CI: 1.13-9.46]; P = 0.02), in children (OR: 6.0; [95% CI: 1.74-20.65]; P = 0.002) and in patients with combined valvular disease (CVD) (OR: 4.06; [95% CI: 1.32-12.48]; P = 0.01) compared to control subjects. 869T allele frequency was significantly higher in adults (OR: 1.89; [95% CI: 1.07-3.33]; P = 0.02), children (OR: 2.32; [95% CI: 1.16-4.66]; P = 0.0 1) and the total population (OR: 2.02; [95% CI: 1.21-3.39]; P = 0.006). C-509T genotypes distributions were not different between RHD patients and control subjects. However, -509T allele seems to confer susceptibility to RHD (OR: 1.78; [95% CI: 1.02-3.11]; P = 0.04). Both adults and children showed no significant difference in the genotypes distribution and allelic frequencies of TGF-beta1 C-509T polymorphism. In addition, genotype distribution and allelic frequencies of C-509T or T869C did not have any relation with the severity of the valvular affection.
  
  
  CONCLUSIONS
  TGF-beta1 T869C TT genotype, 869T allele and 509T allele are possible risk factor for RHD in Egypt. Future studies on larger populations are warranted.
authors.affiliation: Department Cardiology, Faculty of Medicine, Suez Canal University, Egypt.
authors.forename: Hanan
authors.initials: H
authors.lastname: Kamal
authors.forename: Gehan
authors.initials: G
authors.lastname: Hussein
authors.forename: Howayda
authors.initials: H
authors.lastname: Hassoba
authors.forename: Nesrin
authors.initials: N
authors.lastname: Mosaad
authors.forename: Amal
authors.initials: A
authors.lastname: Gad
authors.forename: Mosleh
authors.initials: M
authors.lastname: Ismail
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D004534:Egypt; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006349:Heart Valve Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012214:Rheumatic Heart Disease / Q000175:diagnosis / Q000235:genetics*; D012307:Risk Factors; D012720:Severity of Illness Index; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: D053773:Transforming Growth Factor beta1