Tekrarlayan gebelik kaybı öyküsü olan hastalarda NLRP2,NLRP7 ve KHDC3L gen varyasyonları ilişkisinin araştırılması
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Tarih
2021
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info:eu-repo/semantics/openAccess
Özet
Tekrarlayan gebelik kaybı (TGK), üreme sağlığında önemli bir problemdir. TGK vakalarının yaklaşık %50'sinin nedeni açıklanamamıştır. TGK etiyolojisinde genetik temeli anlamak, teşhis ve prognoz için önemlidir. Bu nedenle çalışmamızda kadın üreme sisteminde önemli işlevleri olan KHDC3L, NLRP2 ve NLRP7 genlerinin TGK ile ilişkisini araştırmayı amaçladık. Çalışmaya Trakya Üniversitesi Tıp Fakültesi Tıbbi Genetik Anabilim Dalı Genetik Hastalıklar Tanı Merkezi polikliniğine TGK öyküsü ile başvuran 96 kadın hasta dahil edildi. Hastalarda KHDC3L, NLRP2 ve NLRP7 genleri NGS yöntemi ile olası varyasyonlar açısından analiz edildi. NLRP7 geninde rs73055288, rs1276342435, NLRP2 geninde rs200815567, rs199475713, rs147585490, rs149897717, rs145361990 ve KHDC3L geninde rs1032302298, rs553706174 varyasyonlarını saptadık. Çalışmamızda açık erişimli veri tabanlarında ve/veya ACMG-2015 kriterlerine göre “patojenik, olası patojenik varyasyon” saptanmadı. Çalışmamızda saptamış olduğumuz sekiz varyasyonun global allel frekansı 0.004’den küçüktü (0.004-0.000004). Bu varyasyonların normal fertiliteye sahip kadınlarda da araştırılmasının literatüre önemli katkılar sağlayacağı öngörüsündeyiz.
Recurrent pregnancy loss (RPL) is an important problem in reproductive health. The cause of approximately 50% of RPL cases has not been explained. Understanding the genetic basis in the etiology of RPL is important for diagnosis and prognosis. Therefore, in our study, we aimed to investigate the relationship of KHDC3L, NLRP2 and NLRP7 genes with RPL, which have important functions in the female reproductive system. Ninety-six female patients who applied to the outpatient clinic of Trakya University Medical Faculty, Department of Medical Genetics, Genetic Diseases Diagnosis Center with a history of RPL were included in the study. KHDC3L, NLRP2 and NLRP7 genes were analyzed in terms of possible variations by NGS method. We detected rs73055288, rs1276342435 in the NLRP7 gene, rs200815567, rs199475713, rs147585490, rs149897717, rs145361990 in the NLRP2 gene and rs1032302298, rs553706174 in the KHDC3L gene. In our study, no "pathogenic, likely pathogenic variation" was found in open access databases and / or according to ACMG-2015 criteria. The global allele frequency of the eight variations we detected in our study was less than 0.004 (0.004-0.000004). We anticipate that investigating these variations in women with normal fertility will contribute significantly to the literature
Recurrent pregnancy loss (RPL) is an important problem in reproductive health. The cause of approximately 50% of RPL cases has not been explained. Understanding the genetic basis in the etiology of RPL is important for diagnosis and prognosis. Therefore, in our study, we aimed to investigate the relationship of KHDC3L, NLRP2 and NLRP7 genes with RPL, which have important functions in the female reproductive system. Ninety-six female patients who applied to the outpatient clinic of Trakya University Medical Faculty, Department of Medical Genetics, Genetic Diseases Diagnosis Center with a history of RPL were included in the study. KHDC3L, NLRP2 and NLRP7 genes were analyzed in terms of possible variations by NGS method. We detected rs73055288, rs1276342435 in the NLRP7 gene, rs200815567, rs199475713, rs147585490, rs149897717, rs145361990 in the NLRP2 gene and rs1032302298, rs553706174 in the KHDC3L gene. In our study, no "pathogenic, likely pathogenic variation" was found in open access databases and / or according to ACMG-2015 criteria. The global allele frequency of the eight variations we detected in our study was less than 0.004 (0.004-0.000004). We anticipate that investigating these variations in women with normal fertility will contribute significantly to the literature
Açıklama
Anahtar Kelimeler
KHDC3L, NLRP2, NLRP7, Tekrarlayan gebelik kaybı, Recurrent Pregnancy Loss
