THE DISTRIBUTION OF FV-LEIDEN, PROTHROMBIN AND PLASMINOGEN ACTIVATOR INHIBITOR GENE MUTATIONS IN PATIENTS WITH OBSTRUCTIVE SLEEP APNEA


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Balbay E. G., Kucuk E., Balbay O., Annakkaya A. N., Silan E., Hiz M. M.

GENETIC COUNSELING, cilt.25, sa.1, ss.69-70, 2014 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Kısa Makale
  • Cilt numarası: 25 Sayı: 1
  • Basım Tarihi: 2014
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.69-70
  • Çanakkale Onsekiz Mart Üniversitesi Adresli: Hayır

Özet

Aim: To investigate Factor V Leiden (FVL), Plasminogen Activator Inhibitor (PAI) or Prothrombin (F2L) gene polymorphisms among OSAS patients.

Abstract

Aim: To investigate Factor V Leiden (FVL), Plasminogen Activator Inhibitor (PAI) or Prothrombin (F2L) gene polymorphisms among OSAS patients. 

Methods: 62 patients (35 male, 27 female) with the suspected diagnosis of OSAS were included. All patients filled out a questionnaire regarding sleep disturbance and underwent polysomnographic (PSG) examination. Genotypes were determined by a polymerase chain reaction and reverse hybridization. 

Results: The mean age was 51 +/- 12. 20 of the patients were not OSAS while 42 was OSAS. The distribution of FVL genotypes for 1691 GG, GA and AA is found 95 %, 5% and 0% in control group and 88.1%, 11.9% and 0% in patient groups (p:0.654) respectively. The mutant genotype was not observed for both FVL and F2L G20210A. The distribution of F2L 2021 GG, GA, AA was found 95%, 5% and 0% in control group while 97.6%, 2.4% and 0% in patient group (p:0.545) respectively. The genotype frequencies of the OSAS patients for PAT were 45.5% for wild, 45% for heterozygote, and 10% for homozygote mutant genotype in control group and 31% for wild, 47.6% for heterozygote, and 21.4% for homozygote mutant genotype in patient group (p:0.413). No significant associations with these three polymorphism were observed for OSAS and the data was shown as odds value for FVL, F2L respectively; ORFVL=2.5 (95% CI: 0.280-23.573), ORF2L =0.463 (95% CI: 0.027-7.811). 

Conclusion: Although FVL mutation was insignificantly high in OSAS patients, it may be an important risk factor in known hypercoagulabi-