Two Different Corticosteroid-Binding Globulin Variants that Lack Cortisol-Binding Activity in a Greek Woman

[JCEM, 2012, Hill, SERPINA6, non-functioning CBG, immunoassay]

JCEM 97:4260-4267, 2012

http://jcem.endojournals.org/content/early/2012/08/31/jc.2012-2467.short

• L. A. Hill, D. A. Vassiliadi*, M. Simard, A. Pavlaki, I. Perogamvros, D. Hadjidakis andG. L. Hammond*

- Title: Two Different Corticosteroid-Binding Globulin Variants that Lack Cortisol-Binding Activity in a Greek Woman

- Author: Hill

- JCEM 2012

- SNPs that alter production or function of CBG are rare

- novel heterozygous c. 1282G>C transversion in exon 5 of SERPINA6 resulting in W371S substitution in area which plays key role in anchoring steroid-ligands to binding site

- no measurable CBG activity despite normal CBG level

- immunoassays fail to reflect CBG activity