Yaşa bağlı makula dejenerasyonu gelişiminde HIF1A, TGFA ve TGFB3 genlerinin belirli varyantlarının araştırılması
Küçük Resim Yok
Tarih
2021
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
İnönü Üniversitesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Amaç: YBMD ile HIF1A, TGFA ve TGFB3 genlerinin belirli varyantları arasındaki ilişkiyi değerlendirmektir. Gereç ve Yöntem: Bu prospektif, kesitsel çalışmaya Mart 2020 ve Mart 2021 tarihleri arasında İnönü Üniversitesi Tıp Fakültesi Göz Hastalıkları Ana Bilim Dalı'nda muayene edilen yaş tip YBMD'si olan 83, kuru tip YBMD'si olan 39 hasta ile kontrol grubu olarak yaş ve cinsiyet uyumlu 68 birey alındı. Tüm olguların tam göz muayenesi yapıldı. YBMD tanısı oftalmolojik muayene, optik koherens tomografi ve fundus floresein anjiografi bulgularına göre konuldu. Her bir olgudan DNA izolasyonu yapılmak üzere 2ml periferik venöz kan örneği EDTA'lı kan tüpüne alındı. HIF1A geni rs11549465 ve rs11549467 varyantları, TGFA geni rs2166975 ve rs1058213 varyantları ile TGFB3 geni IVS5+104AG varyantı PCR-RFLP yöntemi ile araştırıldı. Bulgular: Çalışmaya alınan olguların ortalama yaşı yaş tip YBMD grubunda 70,9 ± 5,91 yıl, kuru tip YBMD grubunda 70,59 ± 6,87 yıl iken kontrol grubunda ise 69,4 ± 5,56 yıldı (p>0,05). Yaş tip YBMD grubunda 51 (%61,4) erkek ve 32 (%38,6) kadın, kuru tip YBMD grubunda 23 (%59,0) erkek ve 16 (%41,0) kadın, kontrol grubunda ise 39 (%57,4) erkek ve 29 (%42,6) kadın bulunmaktaydı (p>0,05). Çalışmaya dahil edilen gözlerin median EDGK değerleri yaş tip YBMD grubunda 1,3 logMAR (0,05 - 3,10), kuru tip YBMD grubunda 0,52 logMAR (0,00 - 3,10), kontrol grubunda ise 0,15 logMAR (0,00 - 1,30) olarak belirlendi. (p<0,05). Median EDGK yaş tip YBMD'de en kötüyken kontrol grubunda en iyiydi. Gruplar arasında HIF1A geni rs11549465 ve TGFB3 geni IVS5+104AG polimorfizmine özgü genotipler arasında istatistiksel olarak anlamlı fark saptandı. TGFA geni rs2166975 ve rs1058213 polimorfizmleri için ise gruplar arasında istatistiksel olarak anlamlı fark izlenmedi (p>0,05). Olguların hiçbirinde HIF1A geni rs11549467 polimorfizmi görülmemiştir. Sonuç: Yaş tip ve kuru tip YBMD gruplarında kontrol grubuna göre HIF1A geni rs11549465 varyantı ile TGFB3 geni IVS5+104AG varyantı daha fazla saptanmıştır. Bu sonuç bu varyantların YBMD riskinin artışıyla ilişkili olabileceğini düşündürmektedir. Anahtar kelimeler: HIF1A, TGFA, TGFB3, Yaşa Bağlı Makula Dejenerasyonu
Aim: To evaluate the association between AMD and spesific variants of the HIF1A, TGFA and TGFB3 genes. Material and Method: In this prospective, cross-sectional study, 83 patients with wet AMD, 39 patients with dry AMD and 68 age- and sex-matched patients as a control group were examined in Inonu University Faculty of Medicine, Department of Ophthalmology between March 2020 and March 2021. A complete eye examination was performed in all cases. The diagnosis of AMD was made according to complete ophthalmologic examination, optical coherence tomography and fundus fluorescein angiography findings. 2 ml of peripheral venous blood sample was taken into an EDTA blood tube for DNA isolation from each case. HIF1A gene rs11549465 and rs11549467 variant, TGFA gene rs2166975 and rs1058213 variants and TGFB3 gene IVS5+104AG variant were investigated by PCR-RFLP method. Results: The mean age of the subjects included in the study was 70,9 ± 5,91 years in the wet AMD group, 70,59 ± 6,87 years in the dry AMD group, and 69,4 ± 5,56 years in the control group (p>0,05). There were 51 (61,4%) men and 32 (38,6%) women in the wet AMD group, 23 (59,0%) men and 16 (41,0%) women in the dry AMD group, 39 (57,4%) men and 29 (42,6%) women in the control group (p>0,05). The median BCVA values of the eyes included in the study were 1,3 logMAR (0,05 – 3,10) in the wet AMD group and 0,52 logMAR (0,00 – 3,10) in the dry AMD group and 0,15 logMAR (0,00 – 1,30) in the control group (p<0,05). Median BCVA was worst in wet AMD, but highest in the control group. Statistically significant difference was found between the groups for genotypes specific to the HIF1A gene rs11549465 and TGFB3 gene IVS5+104AG polymorphisms. There was no statistical difference between the groups for the TGFA gene rs2166975 and rs1058213 polymorphisms. HIF1A gene rs11549467 polymorphism was not observed in any of the cases. Conclusion: HIF1A gene rs11549465 variant and TGFB3 gene IVS5+104AG variant were detected more frequently in wet and dry AMD groups compared to the control group. This result suggests that these variants may be associated with an increased risk of AMD. Keywords: Age Related Macular Degeneration, HIF1A, TGFA, TGFB3
Aim: To evaluate the association between AMD and spesific variants of the HIF1A, TGFA and TGFB3 genes. Material and Method: In this prospective, cross-sectional study, 83 patients with wet AMD, 39 patients with dry AMD and 68 age- and sex-matched patients as a control group were examined in Inonu University Faculty of Medicine, Department of Ophthalmology between March 2020 and March 2021. A complete eye examination was performed in all cases. The diagnosis of AMD was made according to complete ophthalmologic examination, optical coherence tomography and fundus fluorescein angiography findings. 2 ml of peripheral venous blood sample was taken into an EDTA blood tube for DNA isolation from each case. HIF1A gene rs11549465 and rs11549467 variant, TGFA gene rs2166975 and rs1058213 variants and TGFB3 gene IVS5+104AG variant were investigated by PCR-RFLP method. Results: The mean age of the subjects included in the study was 70,9 ± 5,91 years in the wet AMD group, 70,59 ± 6,87 years in the dry AMD group, and 69,4 ± 5,56 years in the control group (p>0,05). There were 51 (61,4%) men and 32 (38,6%) women in the wet AMD group, 23 (59,0%) men and 16 (41,0%) women in the dry AMD group, 39 (57,4%) men and 29 (42,6%) women in the control group (p>0,05). The median BCVA values of the eyes included in the study were 1,3 logMAR (0,05 – 3,10) in the wet AMD group and 0,52 logMAR (0,00 – 3,10) in the dry AMD group and 0,15 logMAR (0,00 – 1,30) in the control group (p<0,05). Median BCVA was worst in wet AMD, but highest in the control group. Statistically significant difference was found between the groups for genotypes specific to the HIF1A gene rs11549465 and TGFB3 gene IVS5+104AG polymorphisms. There was no statistical difference between the groups for the TGFA gene rs2166975 and rs1058213 polymorphisms. HIF1A gene rs11549467 polymorphism was not observed in any of the cases. Conclusion: HIF1A gene rs11549465 variant and TGFB3 gene IVS5+104AG variant were detected more frequently in wet and dry AMD groups compared to the control group. This result suggests that these variants may be associated with an increased risk of AMD. Keywords: Age Related Macular Degeneration, HIF1A, TGFA, TGFB3
Açıklama
Anahtar Kelimeler
Göz Hastalıkları, Eye Diseases
