Hypothalamic-pituitary-adrenal axis suppression in asthma: A
glucocorticoid receptor polymorphism may protect
Abstract
Background: Asthmatic children on corticosteroids can develop
hypothalamic-pituitary-adrenal axis suppression (HPAS). Single
nucleotide polymorphisms (SNPs) rs242941 and rs1876828 of the
corticotrophin-releasing hormone receptor 1 (CRHR1) gene were associated
with lower stimulated cortisol (F) levels, whereas rs41423247 of the
glucocorticoid receptor (NR3C1) gene was associated with higher basal F
levels. The objective of the current study was to confirm whether these
three SNPs are associated with HPAS in asthmatic children. Methods: DNA
was extracted from saliva obtained from 95 asthmatic children, who had
previously undergone basal F and metyrapone testing. Thirty-six children
were classified as suppressed. Non-suppressed children were
sub-classified according to their post-metyrapone ACTH (PMTP ACTH) level
into a middle (106-319 pg/ml) and a high (>319 pg/ml) ACTH
response group. TaqMan® polymerase chain reaction assays were utilized.
Results: Only rs41423247 was inversely associated with HPAS (OR = 0.27
[95% CI 0.06-0.90]). Its GC genotype was inversely associated with
HPAS (log odds = - 1.28, p = 0.021). √PMTP ACTH was associated with CC
(effect size = 10.85, p = 0.005) and GC genotypes (effect size = 4.06, p
= 0.023). The C allele is inherited as a dominant trait (effect size =
-1.31 (95% CI -2.39 – -0.33; p = 0.012). In the high ACTH response
group, both genotypes affected the PMTP ACTH (effect sizes 1.41 and
15.46; p-values 0.023 and < 2x10-26 for GC and CC
respectively). Conclusions: The C allele of rs41423247 was found to be
protective against HPAS. CC genotype is associated with the highest PMTP
ACTH response.