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

Schubert C, 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 - Hum. Mutat. (2014)

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.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Columbia University, New York City, New York.

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Haplotype structure of the CDH5 locus. A: Linkage disequilibrium and haplotype structure of the entire CDH5 locus. B: structure of the locus as defined by the five out of 10 htSNPs typed in this study.
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fig01: Haplotype structure of the CDH5 locus. A: Linkage disequilibrium and haplotype structure of the entire CDH5 locus. B: structure of the locus as defined by the five out of 10 htSNPs typed in this study.

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).


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

Schubert C, 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 - Hum. Mutat. (2014)

Haplotype structure of the CDH5 locus. A: Linkage disequilibrium and haplotype structure of the entire CDH5 locus. B: structure of the locus as defined by the five out of 10 htSNPs typed in this study.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4215937&req=5

fig01: Haplotype structure of the CDH5 locus. A: Linkage disequilibrium and haplotype structure of the entire CDH5 locus. B: structure of the locus as defined by the five out of 10 htSNPs typed in this study.
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).

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.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Columbia University, New York City, New York.

Show MeSH
Related in: MedlinePlus