High frequency of SERPINA6 polymorphisms that reduce plasma corticosteroid-binding globulin activity in Chinese subjects

The Journal of Clinical Endocrinology and Metabolism
Hai-Yan LinG L Hammond

Abstract

Cortisol is transported by corticosteroid-binding globulin (CBG) in blood. Single nucleotide polymorphisms (SNP) in the human CBG (SERPINA6) gene that disrupt CBG production or steroid binding are considered rare. The objective of the study was to identify and determine the frequency of SNP in SERPINA6 that influence the production or cortisol-binding properties of CBG in Chinese subjects. Blood samples from 2287 anonymous Chinese workers undergoing routine health tests were screened for the SERPINA6 coding sequence polymorphisms. In a pilot study of 108 Chinese women, two nonsynonymous SNP were identified within SERPINA6 exon 2 encoding CBG A51V (n = 3) and CBG E102G (n = 1) variants. Sequence analysis of SERPINA6 exon 2 in a further 137 Chinese women revealed two other individuals with nonsynonymous SNP encoding CBGs R64Q and R64W as well as another CBG A51V carrier. The surprisingly high frequency of heterozygous CBG A51V carriers was confirmed in 1011 Chinese men (1:35) and 1031 other women (1:37). Individuals homozygous for these SNP were not identified. When expressed in Chinese hamster ovary cells, CBG A51V bound steroid normally, but its production/secretion was severely impaired; CBG E102G was produced normally, but it...Continue Reading

Citations

Jul 15, 2015·Clinical Biochemistry·Nienke MolenaarMargriet F C de Jong
Nov 3, 2015·Best Practice & Research. Clinical Endocrinology & Metabolism·Yoon Ju Bae, Juergen Kratzsch
Apr 27, 2016·The Journal of Endocrinology·Geoffrey L Hammond
Aug 15, 2012·Nature Reviews. Endocrinology·Ilias PerogamvrosPeter J Trainer
Sep 6, 2012·The Journal of Clinical Endocrinology and Metabolism·L A HillG L Hammond
Jul 31, 2018·Expert Review of Endocrinology & Metabolism·Emily J MeyerDavid J Torpy
Oct 5, 2018·AACE Clinical Case Reports·Amanda P T BarrosLeonardo Vieira Neto
Jul 27, 2021·Journal of the Endocrine Society·Emily Jane MeyerDavid James Torpy

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