Prognostic value of T786C and G894T eNOS polymorphisms in sickle cell disease

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• 作者：Iakovos Armenis^a ; ¹ ; ^{iakovosarm@hotmail.com} ; Vassiliki Kalotychou^a ; ¹ ; Revekka Tzanetea^a ; ^b ; Panagoula Kollia^c ; Zoi Kontogeorgiou^a ; ^c ; Dimitra Anastasopoulou^a ; ^c ; Marina Mantzourani^a ; Michael Samarkos^a ; Konstantinos Pantos^d ; Kostas Konstantopoulos^e ; Ioannis Rombos^b
• 关键词：Nitric oxide ; Endothelial Nitric Oxide Synthase (eNOS) ; Polymorphisms ; Sickle cell disease ; Hemoglobinopathies ; G894T ; T786C
• 刊名：Nitric Oxide
• 出版年：2017
• 出版时间：30 January 2017
• 年：2017
• 卷：62
• 期：Complete
• 页码：17-23
• 全文大小：284 K
• 卷排序：62

文摘

eNOS T786C and G894T polymorphisms affect clinical phenotype of Sickle Cell Disease according to beta globin gene genotype. 786CC genotype predisposes Sickle Cell Disease patients with S/S and β0/S genotype to proliferative retinopathy. 894TT genotype is associated with higher hematocrit in Sickle Cell Disease patients of S/S and β0/S genotype. Peripheral blood eNOS mRNA levels are not associated with beta globin gene genotype or eNOS T786C genotype.