دورية أكاديمية
أعرض في EDS

Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathy.

التفاصيل البيبلوغرافية
العنوان: Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathy.
المؤلفون: Schubert C; Department of Ophthalmology, Columbia University, New York City, New York., Pryds A, Zeng S, Xie Y, Freund KB, Spaide RF, Merriam JC, Barbazetto I, Slakter JS, Chang S, Munch IC, Drack AV, Hernandez J, Yzer S, Merriam JE, Linneberg A, Larsen M, Yannuzzi LA, Mullins RF, Allikmets R
المصدر: Human mutation [Hum Mutat] 2014 Jul; Vol. 35 (7), pp. 859-67.
نوع المنشور: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
أسماء مطبوعة: Original Publication: New York : Wiley-Liss, c1992-
مواضيع طبية MeSH: Adrenal Cortex Hormones/*pharmacology , Antigens, CD/*genetics , Cadherins/*genetics , Central Serous Chorioretinopathy/*genetics , Gene Expression Regulation/*drug effects, Adolescent ; Adult ; Aged ; Alleles ; Animals ; Antigens, CD/metabolism ; Cadherins/metabolism ; Case-Control Studies ; Cell Line ; Central Serous Chorioretinopathy/metabolism ; Choroid/drug effects ; Choroid/metabolism ; Endothelial Cells/drug effects ; Endothelial Cells/metabolism ; Female ; Gene Frequency ; Genetic Association Studies ; Haplotypes ; Humans ; Intercellular Junctions/ultrastructure ; Linkage Disequilibrium ; Male ; Mice ; Middle Aged ; Polymorphism, Single Nucleotide ; Protein Transport ; Young Adult
مستخلص: Central serous chorioretinopathy (CSC) is characterized by leakage of fluid from the choroid into the subretinal space and, consequently, loss of central vision. The disease is triggered by endogenous and exogenous corticosteroid imbalance and psychosocial stress and is much more prevalent in men. We studied the association of genetic variation in 44 genes from stress response and corticosteroid metabolism pathways with the CSC phenotype in two independent cohorts of 400 CSC cases and 1,400 matched controls. The expression of cadherin 5 (CDH5), the major cell-cell adhesion molecule in vascular endothelium, was downregulated by corticosteroids which may increase permeability of choroidal vasculature, leading to fluid leakage under the retina. We found a significant association of four common CDH5 SNPs with CSC in male patients in both cohorts. Two common intronic variants, rs7499886:A>G and rs1073584:C>T, exhibit strongly significant associations with CSC; P = 0.00012; odds ratio (OR) = 1.5; 95%CI [1.2;1.8], and P = 0.0014; OR = 0.70; 95%CI [0.57;0.87], respectively. A common haplotype was present in 25.4% male CSC cases and in 35.8% controls (P = 0.0002; OR = 0.61, 95% CI [0.47-0.79]). We propose that genetically predetermined variation in CDH5, when combined with triggering events such as corticosteroid treatment or severe hormonal imbalance, underlie a substantial proportion of CSC in the male population.
(© 2014 The Authors. *Human Mutation published by Wiley Periodicals, Inc.)
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معلومات مُعتمدة: R01 EY013435 United States EY NEI NIH HHS; EY017451 United States EY NEI NIH HHS; EY013435 United States EY NEI NIH HHS; P30 EY019007 United States EY NEI NIH HHS; R01 EY017451 United States EY NEI NIH HHS; T32 EY013933 United States EY NEI NIH HHS
فهرسة مساهمة: Keywords: CDH5; Cadherin 5; central serous chorioretinopathy; genetic association; retinal disease
المشرفين على المادة: 0 (Adrenal Cortex Hormones)
0 (Antigens, CD)
0 (Cadherins)
0 (cadherin 5)
تواريخ الأحداث: Date Created: 20140326 Date Completed: 20150123 Latest Revision: 20220716
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC4215937
DOI: 10.1002/humu.22551
PMID: 24665005
قاعدة البيانات: MEDLINE
الوصف
تدمد:1098-1004
DOI:10.1002/humu.22551