The Relationship between P-Selectin Polymorphisms and Thrombosis in Antiphospholipid Syndrome: A Pilot Case-Control StudyNilüfer Alpay1, Veysel Sabri Hançer2, Burak Erer1, Murat İnanç1, Reyhan Diz Küçükkaya31İstanbul University, İstanbul Medical Faculty, Department Of Internal Medicine, Division Of Rheumatology
2İstanbul Bilim University Faculty Of Medicine, Department Of Medical Biology And Genetics, İstanbul, Turkey
3İstanbul Bilim University Faculty Of Medicine, Department Of Internal Medicine, Division Of Hematology, İstanbul, Turkey
OBJECTIVE: The selectins are cell adhesion molecules that mediate the interactions among leukocytes, activated platelets, and endothelial cells. We aimed to investigate whether P-selectin polymorphisms are associated with thrombosis in patients with antiphospholipid syndrome (APS).
METHODS: The diagnosis and classification of APS were based on the report of an international workshop. Genomic DNA was extracted from citrated blood samples of all subjects. Three single nucleotide polymorphisms associated with the P-selectin coding region (S290N, c.1087G>A; N562D, c.1902G>A; T715P, c.2363A>C) were assessed.
RESULTS: There were 26 APS (65%) patients with thrombosis. The number of patients without thrombosis was 14 (35%). The frequency of the N562D-DN genotype was significantly higher in patients with APS than in healthy controls (p=0.003). The frequency of this genotype was significantly higher in patients with APS with thrombosis compared with patients with no thrombosis (p=0.03). The N562D-NN genotype was found at a higher frequency in patients with APS than in healthy controls (p=0.004).
CONCLUSION: Our results suggest that the N562D polymorphism of the DN genotype of P-selectin is associated with an increased risk of thrombosis in patients with APS.
Keywords: P-selectin polymorphisms, Thrombosis, Antiphospholipid syndrome
Antifosfolipid Sendromunda P-Selectin Polimorfizmi ile Tromboz arasındaki İlişki: Pilot Olgu Kontrol ÇalışmasıNilüfer Alpay1, Veysel Sabri Hançer2, Burak Erer1, Murat İnanç1, Reyhan Diz Küçükkaya31İstanbul University, İstanbul Medical Faculty, Department Of Internal Medicine, Division Of Rheumatology
2İstanbul Bilim University Faculty Of Medicine, Department Of Medical Biology And Genetics, İstanbul, Turkey
3İstanbul Bilim University Faculty Of Medicine, Department Of Internal Medicine, Division Of Hematology, İstanbul, Turkey
AMAÇ: Hücre adezyon molekülü olan selektinler, lökositlerle, aktive plateletler ya da endotel hücreleri arasındaki etkileşime aracılık eder. Bu çalışmada antifosfolipid sendromu (AFS) hastalarında tromboz riski ile P-selektin polimorfizmleri arasındaki ilişkinin araştırılması amaçlanmaktadır.
YÖNTEMLER: AFS tanısı “International Workshop” tanı ve sınıflandırma kriterleri ile konulmuştur. Hastaların periferik kan örneklerinden DNA elde edilmiştir. P-selektin gen bölgesiyle ilişkili üç tane tek nükleotid polimorfizmi (S290N, c.1087G>A; N562D, c.1902G>A; T715P, c.2363A>C) araştırılarak genotipleri belirlenmiştir.
BULGULAR: Hasta grubunda 26 trombozlu (%65) AFS olgusu ve 14 (%14) trombozu olmayan AFS olgusu yer almaktadır. Hasta ve kontrol grubu kıyaslandığında incelenen polimorfizlerden N562D-DN genotipi hasta grubunda anlamlı olarak yüksek bulunmuştur (p: 0,003). Yine hasta grubuna bakıldığında trombozlu AFS grubunda trombozu olmayan AFS grubuna kıyasla N562D-DN genotipine anlamlı olarak sık rastlanmıştır (p: 0,03). N562D NN genotipi ise kontrol grubunda hasta grubuna oranla daha yüksek sıklıktadır (p: 0,004).
SONUÇ: Sonuç olarak P-selektin N562D polimorfizmi DN genotipi primer AFS hastalarında tromboz riski ile ilişkili olduğu söylenebilir.
Anahtar Kelimeler: P-selektin polimorfizmleri, Tromboz, Antifosfolipid sendrom
Nilüfer Alpay, Veysel Sabri Hançer, Burak Erer, Murat İnanç, Reyhan Diz Küçükkaya. The Relationship between P-Selectin Polymorphisms and Thrombosis in Antiphospholipid Syndrome: A Pilot Case-Control Study. Turk J Hematol. 2014; 31(4): 357-362
Corresponding Author: Nilüfer Alpay, Türkiye |
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