Gönül Zişan ŞAHİN, Nergiz HÜSEYİNOĞLU, Hatice KÖSE ÖZLECE

Analysis of vitamin D Receptor Polymorphisms in Turkish Patients with Obstructive Sleep Apnea Syndrome

Objective: Numerous studies investigating Vitamin D receptor (VDR) polymorphisms in different populations havebeen present in current literature. For this reason, we designed a study to investigate the role of three knowncommon VDR genetic polymorphisms (Apa-I/rs7975232, Bsm-I/ rs1544410 and Taq-I/rs731236) in Turkishindividuals affected by Obstructive sleep apnea syndrome (OSAS).Methods: The study was carried out on a total of 175 consecutive subjects, including 80 OSAS patients and 95 healthyparticipants. Single Nucleotide Polymorphism (SNP) Detection was performed with the iPLEX® Assay and theMassARRAY® System for detection of Apa-I (rs7975232), Bsm-I (rs1544410), and Taq-I (rs731236) polymorphisms.Results: Fifty-seven C alleles (71.3%) and 59 T alleles (73.8%) were detected in the group of 80 OSAS patients interms of rs1544410 polymorphism. When the patient and control groups were evaluated statistically at allelic level, itwas observed that the T allele increased the risk of disease and this increase was statistically significant (Odds Ratio(OR) = 1.549 [Confidence Interval (CI): 1.012-2.371], (p=0.043). However, there were no significant differencesbetween other VDR polymorphisms (rs7975232 and rs731236) and OSAS clinical data (p=0.6 and p=0.9,respectively).Discussion: As a conclusion, no statistically significant relationship was found between all three VDR polymorphismsand OSAS patients' clinical features. Further studies should be performed by creating a large sampling group. Finally,population studies should be given importance considering the variability of polymorphism according to ethnic origin.

Obstrüktif Uyku Apne Sendromuna Sahip Türk Hastalarda Vitamin D Reseptör Polimorfizmlerinin İncelenmesi

Giriş: Mevcut literatürde, farklı popülasyonlarda Vitamin D reseptörü (VDR) polimorfizmlerinin analiz edildiği birçok çalışma bulunmaktadır. Bu sebepten, Obstrüktif uyku apne sendromu (OUAS)'tan muzdarip Türk bireylerde en çok bilinen 3 VDR genetik polimorfizmin (Apa-I/rs7975232, Bsm-I/ rs1544410 ve Taq-I/rs731236) araştırılmasına yönelik bir çalışma dizayn ettik. Yöntemler: Bu çalışmada, 80 OUAS hastası ve 95 sağlıklı gönüllü olmak üzere toplam 175 katılımcı yer almıştır. Apa-I (rs7975232), Bsm-I (rs1544410), ve Taq-I (rs731236) gen bölgelerine ait Tek nükleotid polimorfizmleri (SNP), iPLEX® Assay ve the MassARRAY® System ile gerçekleştirilmiştir. Bulgular: Çalışma sonucunda, 80 OSAS hastasından oluşan grupta rs1544410 polimorfizmi açısından, 57 adet C alleli (%71,3) ve 59 adet T alleli (%73,8) olduğu tespit edildi. Hasta ve kontrol grubu allellik seviyede istatistiksel olarak değerlendirildiğinde T allelinin hastalık riskini artırdığı ve bu artışın istatistiksel olarak anlamlı olduğu gözlenmiştir (OR=1.549 [CI:1.012-2.371], p=0.043). Ancak, diğer 2 VDR polimorfizmleri (rs7975232 ve rs731236) ile OSAS klinik verileri karşılaştırıldığında, istatistiksel olarak anlamlı bir farklılık tespit edilmemiştir. Tartışma: Sonuç olarak tüm klinik veriler ve VDR polimorfizmleri istatistiksel olarak değerlendirildiğinde; OUAS hasta grubunun VDR polimorfizmleri ile klinik verileri arasında istatistiksel olarak anlamlı bir ilişki bulunamadı. Gelecek çalışmalarda, hasta grubu oluşturulurken daha büyük örneklem alınmalı ve son olarak etnik kökene göre polimorfizm değişkenliği göz önünde bulundurularak populasyon çalışmalarına önem verilmelidir.

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