Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathy.
Bottom Line: 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.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.
Affiliation: Department of Ophthalmology, Columbia University, New York City, New York.Show MeSH
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Mentions: To determine whether common variants of the CDH5 gene are associated with CSC, a selection of 10 SNPs were screened in a cohort of 148 CSC patients and 368 disease-free, ethnically matched, controls from New York. Nine of ten SNPs were located in non-coding regions (in promoter, and introns 1, 5, and 7) and one was a c.384 C>T, synonymous variant (rs1130844:C>T; Fig.1, Tables1 and 2, and Supp. Table S3).
Affiliation: Department of Ophthalmology, Columbia University, New York City, New York.