title: Association of two selected polymorphisms with developed endometriosis in women from Slovakia.
abstract: OBJECTIVE
  To clarify the connection between two selected mononucleotide polymorphisms (rs4957014 and rs3756712) in programmed cell death gene 6 (PDCD6) and endometriosis development risk in patients belonging to the majority population of Slovakia.
  
  
  METHODS
  From all women involved in the research a buccal DNA sample was taken. A genetic analysis of selected polymorphisms was implemented using Real-time PCR method. Variance in allelic and genotype frequencies was statistically evaluated between the controlgroup and the group of patients.
  
  
  RESULTS
  The analysed group consisted of 52 women suffering from endometriosis and the control group of 63 women. Variant G allele frequency in the group of patients in case of polymorphism rs3756712 had a value of 0.42 and in the control group 0.29; that represents its statistically and significantly higher occurrence in the group of patients suffering from endometriosis (p = 0.029 and OR = 1.833). Presence of G allele is related to almost 1.9 times higher risk of endometriosis development.
  
  
  CONCLUSIONS
  Achieved results show that polymorphism rs3756712 is significantly associated with the risk of endometriosis development in Slovak women. Polymorphism rs4957014 did not show any connection with development of endometriosis (Tab. 5, Ref. 10).
authors.forename: J
authors.initials: J
authors.lastname: Pitonak
authors.forename: J
authors.initials: J
authors.lastname: Galova
authors.forename: J
authors.initials: J
authors.lastname: Bernasovska
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D002135:Calcium-Binding Proteins / Q000235:genetics*; D016022:Case-Control Studies; D004715:Endometriosis / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction / Q000379:methods*; D012306:Risk; D018154:Slovakia / Q000453:epidemiology; D055815:Young Adult
chemical_list: D051017:Apoptosis Regulatory Proteins; D002135:Calcium-Binding Proteins; C097753:PDCD6 protein, human
keywords: apoptosis; endometriosis; mononucleotide polymorphisms.; programmed cell death gene 6