Kistik fibrozis transmembran regülatör (CFTR) genindeki M470V polimorfizmi ve erkek infertilitesi

AMAÇ: Erkek infertilitesine neden olan durumlardan biri de kistik fibrozistir (KF). KF erkeklerde infertiliteye, genellikle konjenital bilateral vas deferens agenezisine (KBVDA) yol açarak neden olmaktadır. Bununla birlikte, KF genindeki mutasyonlar ve polimorfizmlerin spermatogenezi nasıl etkilediği ile ilgili çalışmalar sınırlıdır. Bu çalışma, KBVDA olmayan erkeklerde şiddetli oligozoospermi veya nonobstrüktif azoosperminin (NOA) KF genindeki M470V polimorfizmi ile birlikteliğini araştırmayı amaçlamıştır.GEREÇ ve YÖNTEM: Çalışmaya, hastanemiz androloji polikliniğine infertilite nedeniyle başvuran, semen analizinde şiddetli oligozoospermi veya NOA saptanan 33 hasta dahil edildi. Hastalardan, kistik fibrozis transmembran regülatör (CFTR) gen analizi istendi ve yapılan analizde, M470V polimorfizminin olup olmadığı değerlendirildi.BULGULAR: Hastaların yaş ortalaması 34,3 idi. Otuz üç hastanın 13'ünde (%39,4) NOA, 20'sinde ise (%60,4) şiddetli oligozoospermi mevcuttu. Sekizi (%62) NOA grubunda ve 11'i (%55) şiddetli oligozoospermi grubunda olmak üzere, toplam 19 (%58) hastada M470V polimorfizmi mevcuttu. Daha önce sağlıklı gönüllülerle yapılmış çalışmalarda bildirilen oranlarla (%28-47) karşılaştırıldığında, hasta grubumuzdaki M470V polimorfizmi sıklığı, toplumdaki beklenen orana göre yüksek bulundu.SONUÇ: Bu çalışmanın sonuçları, şiddetli oligozoospermi veya NOA'sı olan kişilerde gözlenen artmış M470V polimorfizminin, KBVDA dışında spermatogenez üzerine de etkileri olabileceğini düşündürmektedir. Ancak, bu konuyla ilgili daha kapsamlı çalışmalara ihtiyaç vardır

M470V polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and male infertility

OBJECTIVE: Cystic fibrosis (CF) is one of the conditions that cause male infertility. CF is caused infertility in men by usually resulting congenital bilateral vas deferens agenesis (CBVDA). However, studies on how mutations and polymorphisms in CF gene affect spermatogenesis are limited. In this study, we aimed to investigate the association of severe oligozoospermia or nonobstructive azoospermia (NOA) with M470V polymorphism in the CF gene in non-CBVDA males.MATERIAL and METHODS: Thirty-three patients with severe oligozoospermia or NAO who were admitted to our andrology clinic because of infertility were enrolled in the study. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene analysis was performed to evaluate the presence of M470V polymorphism.RESULTS: The mean age was 34.3 years. 13 of 33 patients (39.4%) had NOA, and 20 (60.4%) had severe oligozoospermia. M470V polymorphism was present in 19 (58%) patients, 8 of them were in the NOA group (62%) and 11 (55%) were in the oligozoospermia group. The frequency of M470V polymorphism in our patient group was found higher than expected in the population when compared with the rates reported in previous studies (28–47%) with healthy population.CONCLUSION: The results of this study suggest that increased M470V polymorphism in individuals with severe oligozoospermia or NOA may also have effects on spermatogenesis other than CBVDA. However, there is a need for more extensive studies on this topic

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