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The distribution of FV Leiden gene mutation in patients with obstructive sleep apnea

Yıl 2010, Cilt: 32 Sayı: 1, 61 - 66, 11.03.2010

Taha T. Bekçi Nadir Koçak , Filiz Özen Turgut Teke

Öz

Abstract

Aim. We aimed to investigate whether this polymorphism has any effects on the development of the differences in the progression of the OSAS patients. Methods. The patient group was selected from patients admitted to the our Sleep Laboratory. Total 122 subjects, 44 OSAS patients (only), 32 OSAS patients with cardio vascular diseases (CVD) and 46 controls, were enrolled in the study. The control group consisted of healthy volunteers who had no symptoms of OSAS and scored 0 on the Epworth sleepiness scale. In order to determine gene mutations, DNA isolation was performed from peripheral blood samples. Results. While mean weight and BMI were significantly different, no significant differences were found between patient and control groups in terms of FV Leiden allele distributions. Conclusion. FV Leiden mutation does not affect progression in patients with OSAS

Keywords: Obstructive sleep apnea, polymorphism, mutation

 

Özet

Amaç. Bu çalışmada OSAS hastalarının progresyonunda farklılıklar oluşmasında FV Leiden polimorfizminin herhangi bir etkisi olup olmadığını araştırmayı amaçladık. Yöntem. Hasta grubu uyku laboratuvarımıza başvuran hastalardan seçildi. Toplam 122 kişi ( 44 OSAS hastası (yalnızca), 32 kardiyovasküler hastalığı (KVH) olan OSAS hastası ve 46 kontrol grubu) çalışmamıza katıldı. Kontrol grubu OSAS semptomları bulunmayan, Epworth uykusuzluk skalası 0 olan sağlıklı gönülülerden oluşturuldu. Gen mutasyonlarını belirlemek için DNA izolasyonu periferik kandan yapıldı. Bulgular. BMI ve ağırlık ortalamaları önemli oranda farklıyken, FV Leiden allel dağılımları açısından hasta ve kontrol  grupları arasında önemli bir farklılık bulunamadı. Sonuç. FV Leiden mutasyonu OSAS hastalarında progresyonu etkilememektedir

Anahtar sözcükler: Obstruktif uyku apnesi, polimorfizm, mutasyon

 

Anahtar Kelimeler

-

Kaynakça

  • Kato M, Adachi T, Koshino Y, Somers VK. Obstructive sleep apnea and cardiovascular disease. Circ J 2009 ; 73:1363-70.
  • Lavie L. Sleep-disordered breathing and cerebrovascular disease: a mechanistic approach. Neurol Clin 2005; 23:1059-75.
  • Suzuki YJ, Jain V, Park AM, Day RM. Oxidative stress and oxidant signaling in obstructive sleep apnea and associated cardiovascular diseases. Free Radic Biol Med 2006;40:1683-92.
  • Peker Y, Kraiczi H, Hedner J, Löth S, Johansson A, Bende M. An independent association between obstructive sleep apnoea and coronary artery disease. Eur Respir J 1999; 14: 179-84.
  • Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995; 85: 1504-8.
  • Akinnusi ME, Paasch LL, Szarpa KR, Wallace PK, El Solh AA. Impact of nasal continuous positive airway pressure therapy on markers of platelet activation in patients with obstructive sleep apnea. Respiration 2009; 77: 25-31.
  • Schulz R. The vascular micromilieu in obstructive sleep apnoea. Eur Respir J 2005; 25: 780-2.
  • März W, Seydewitz H, Winkelmann B, Chen M, Nauck M, Witt I. Mutation in coagulation factor V associated with resistance to activated protein C in patients with coronary artery disease. Lancet 1995; 345: 526.
  • Rees DC. The population genetics of factor V Leiden (Arg506Gln). Br J Haematol 1996; 95: 579-86.
  • Ornstein DL, Cushman M. Cardiology patient page. Factor V Leiden. Circulation 2003;107: 94-7.
  • Araşjo F, Santos A, Araşjo V, Henriques I, Monteiro F, Meireles E, Moreira I, David D, Maciel MJ, Cunha-Ribeiro LM. Genetic risk factors in acute coronary disease. Haemostasis 1999; 29: 212-8.
  • Dutta TK, Venugopal V. Venous thromboembolism: the intricacies. J Postgrad Med 2009; 55: 55-64.
  • Gelhaus A, Urban B, Pirmez C. DNA extraction from urea-preserved blood or blood clots for use in PCR. Trends Genet 1995; 11:41.
  • Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-7.
  • Lavie L. Obstructive sleep apnoea syndrome-an oxidative stress disorder. Sleep Med Rev 2003; 7: 35-51.
  • Schulz R, Mahmoudi S, Hattar K, Sıbelıus U, Olschewskı H, Meyer K, Seeger W, Grımmınger F. Enhanced release of superoxide from polymorphonuclear neutrophils in obstructive sleep apnea. Impact of continuous positive airway pressure therapy. Am J Respir Crit Care Med 2000; 162: 566-70.
  • Carlson JT, Rångemark C, Hedner JA. Attenuated endothelium-dependent vascular relaxation in patients with sleep apnoea. J Hypertens 1996; 14: 577-84.
  • Kraiczi H, Hedner J, Peker Y, Carlson J. Increased vasoconstrictor sensitivity in obstructive sleep apnea. J Appl Physiol 2000; 89: 493-8.
  • Phillips BG, Narkiewicz K, Pesek CA, Haynes WG, Dyken ME, Somers VK. Effects of obstructive sleep apnea on endothelin-1 and blood pressure. J Hypertens 1999; 17: 61-6.
  • Chin K, Ohi M, Kita H, Noguchi T, Otsuka N, Tsuboi T, Mishima M, Kuno K. Effects of NCPAP therapy on fibrinogen levels in obstructive sleep apnea syndrome. Am J Respir Crit Care Med 1996; 153: 1972-6.
  • Bokinsky G, Miller M, Ault K, Husband P, Mitchell J. Spontaneous platelet activation and aggregation during obstructive sleep apnea and its response to therapy with nasal continuous positive airway pressure. A preliminary investigation. Chest 1995; 108: 625- 30.
  • Rångemark C, Hedner JA, Carlson JT, Gleerup G, Winther K. Platelet function and fibrinolytic activity in hypertensive and normotensive sleep apnea patients. Sleep 1995; 18: 188-94.
  • Robinson GV, Pepperell JC, Segal HC, Davies RJ, Stradling JR. Circulating cardiovascular risk factors in obstructive sleep apnoea: data from randomised controlled trials. Thorax 2004; 59: 777-82.
  • Segev A, Ellis MH, Segev F, Friedman Z, Reshef T, Sparkes JD, Tetro J, Pauzner H, David D. High prevalence of thrombophilia among young patients with myocardial infarction and few conventional risk factors. Int J Cardiol 2005; 98: 421-4.
  • Zöller B, Svensson PJ, He X, Dahlbäck B. Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. J Clin Invest 1994; 94: 2521-4.
  • Joseph L. Pathogenesis of thrombosis. In: Beutler E, Lichtman MA, Coller BS, Kipps TS (Eds) Williams Hematology. 5th ed. New York: McGraw-Hill Inc. 1995: 1525-31.
  • Koeleman BP, Reitsma PH, Allaart CF, Bertina RM. Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 1994; 84:1031-5.
  • Zöller B, Dahlbäck B. Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis. Lancet 1994; 343: 1536-8.
  • Griffin JH, Evatt B, Wideman C, Fernández JA. Anticoagulant protein C pathway defective in majority of thrombophilic patients. Blood 1993; 82: 1989-93.
  • Rosendaal FR, Siscovick DS, Schwartz SM, Psaty BM, Raghunathan TE, Vos HL. A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women. Blood 1997; 90: 1747-50.

Obstruktif uyku apneli hastalarda FV Leiden mutasyonun dağılımı

Yıl 2010, Cilt: 32 Sayı: 1, 61 - 66, 11.03.2010

Taha T. Bekçi Nadir Koçak , Filiz Özen Turgut Teke

Öz

Amaç. Bu çalışmada OSAS hastalarının progresyonunda farklılıklar oluşmasında FV Leiden
polimorfizminin herhangi bir etkisi olup olmadığını araştırmayı amaçladık. Yöntem. Hasta grubu
uyku laboratuvarımıza başvuran hastalardan seçildi. Toplam 122 kişi (44 OSAS hastası
(yalnızca), 32 kardiyovasküler hastalığı (KVH) olan OSAS hastası ve 46 kontrol grubu)
çalışmamıza katıldı. Kontrol grubu OSAS semptomları bulunmayan, Epworth uykusuzluk skalası
0 olan sağlıklı gönülülerden oluşturuldu. Gen mutasyonlarını belirlemek için DNA izolasyonu
periferik kandan yapıldı. Bulgular. BMI ve ağırlık ortalamaları önemli oranda farklıyken, FV
Leiden allel dağılımları açısından hasta ve kontrol grupları arasında önemli bir farklılık
bulunamadı. Sonuç. FV Leiden mutasyonu OSAS hastalarında progresyonu etkilememektedir

Anahtar Kelimeler

Obstruktif uyku apnesi polimorfizm mutasyon

Kaynakça

  • Kato M, Adachi T, Koshino Y, Somers VK. Obstructive sleep apnea and cardiovascular disease. Circ J 2009 ; 73:1363-70.
  • Lavie L. Sleep-disordered breathing and cerebrovascular disease: a mechanistic approach. Neurol Clin 2005; 23:1059-75.
  • Suzuki YJ, Jain V, Park AM, Day RM. Oxidative stress and oxidant signaling in obstructive sleep apnea and associated cardiovascular diseases. Free Radic Biol Med 2006;40:1683-92.
  • Peker Y, Kraiczi H, Hedner J, Löth S, Johansson A, Bende M. An independent association between obstructive sleep apnoea and coronary artery disease. Eur Respir J 1999; 14: 179-84.
  • Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995; 85: 1504-8.
  • Akinnusi ME, Paasch LL, Szarpa KR, Wallace PK, El Solh AA. Impact of nasal continuous positive airway pressure therapy on markers of platelet activation in patients with obstructive sleep apnea. Respiration 2009; 77: 25-31.
  • Schulz R. The vascular micromilieu in obstructive sleep apnoea. Eur Respir J 2005; 25: 780-2.
  • März W, Seydewitz H, Winkelmann B, Chen M, Nauck M, Witt I. Mutation in coagulation factor V associated with resistance to activated protein C in patients with coronary artery disease. Lancet 1995; 345: 526.
  • Rees DC. The population genetics of factor V Leiden (Arg506Gln). Br J Haematol 1996; 95: 579-86.
  • Ornstein DL, Cushman M. Cardiology patient page. Factor V Leiden. Circulation 2003;107: 94-7.
  • Araşjo F, Santos A, Araşjo V, Henriques I, Monteiro F, Meireles E, Moreira I, David D, Maciel MJ, Cunha-Ribeiro LM. Genetic risk factors in acute coronary disease. Haemostasis 1999; 29: 212-8.
  • Dutta TK, Venugopal V. Venous thromboembolism: the intricacies. J Postgrad Med 2009; 55: 55-64.
  • Gelhaus A, Urban B, Pirmez C. DNA extraction from urea-preserved blood or blood clots for use in PCR. Trends Genet 1995; 11:41.
  • Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-7.
  • Lavie L. Obstructive sleep apnoea syndrome-an oxidative stress disorder. Sleep Med Rev 2003; 7: 35-51.
  • Schulz R, Mahmoudi S, Hattar K, Sıbelıus U, Olschewskı H, Meyer K, Seeger W, Grımmınger F. Enhanced release of superoxide from polymorphonuclear neutrophils in obstructive sleep apnea. Impact of continuous positive airway pressure therapy. Am J Respir Crit Care Med 2000; 162: 566-70.
  • Carlson JT, Rångemark C, Hedner JA. Attenuated endothelium-dependent vascular relaxation in patients with sleep apnoea. J Hypertens 1996; 14: 577-84.
  • Kraiczi H, Hedner J, Peker Y, Carlson J. Increased vasoconstrictor sensitivity in obstructive sleep apnea. J Appl Physiol 2000; 89: 493-8.
  • Phillips BG, Narkiewicz K, Pesek CA, Haynes WG, Dyken ME, Somers VK. Effects of obstructive sleep apnea on endothelin-1 and blood pressure. J Hypertens 1999; 17: 61-6.
  • Chin K, Ohi M, Kita H, Noguchi T, Otsuka N, Tsuboi T, Mishima M, Kuno K. Effects of NCPAP therapy on fibrinogen levels in obstructive sleep apnea syndrome. Am J Respir Crit Care Med 1996; 153: 1972-6.
  • Bokinsky G, Miller M, Ault K, Husband P, Mitchell J. Spontaneous platelet activation and aggregation during obstructive sleep apnea and its response to therapy with nasal continuous positive airway pressure. A preliminary investigation. Chest 1995; 108: 625- 30.
  • Rångemark C, Hedner JA, Carlson JT, Gleerup G, Winther K. Platelet function and fibrinolytic activity in hypertensive and normotensive sleep apnea patients. Sleep 1995; 18: 188-94.
  • Robinson GV, Pepperell JC, Segal HC, Davies RJ, Stradling JR. Circulating cardiovascular risk factors in obstructive sleep apnoea: data from randomised controlled trials. Thorax 2004; 59: 777-82.
  • Segev A, Ellis MH, Segev F, Friedman Z, Reshef T, Sparkes JD, Tetro J, Pauzner H, David D. High prevalence of thrombophilia among young patients with myocardial infarction and few conventional risk factors. Int J Cardiol 2005; 98: 421-4.
  • Zöller B, Svensson PJ, He X, Dahlbäck B. Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. J Clin Invest 1994; 94: 2521-4.
  • Joseph L. Pathogenesis of thrombosis. In: Beutler E, Lichtman MA, Coller BS, Kipps TS (Eds) Williams Hematology. 5th ed. New York: McGraw-Hill Inc. 1995: 1525-31.
  • Koeleman BP, Reitsma PH, Allaart CF, Bertina RM. Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 1994; 84:1031-5.
  • Zöller B, Dahlbäck B. Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis. Lancet 1994; 343: 1536-8.
  • Griffin JH, Evatt B, Wideman C, Fernández JA. Anticoagulant protein C pathway defective in majority of thrombophilic patients. Blood 1993; 82: 1989-93.
  • Rosendaal FR, Siscovick DS, Schwartz SM, Psaty BM, Raghunathan TE, Vos HL. A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women. Blood 1997; 90: 1747-50.
Toplam 30 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Dahili Tıp Bilimleri Araştırma Yazıları
Yazarlar

Taha T. Bekçi

Nadir Koçak

Filiz Özen

Turgut Teke

Yayımlanma Tarihi 11 Mart 2010
Yayımlandığı Sayı Yıl 2010Cilt: 32 Sayı: 1

Kaynak Göster

AMA Bekçi TT, Koçak N, Özen F, Teke T. The distribution of FV Leiden gene mutation in patients with obstructive sleep apnea. CMJ. Mart 2010;32(1):61-66.