The Bcl I single nucleotide polymorphism of the human glucocorticoid receptor gene h-GR/NR3C1 promoter in patients with bronchial asthma: pilot study

Abstract

Bcl I in the promoter polymorphism observed within h-GR/NR3C1 gene may play an important role in the development of bronchial asthma and resistance to GCs in the severe bronchial asthma. The aim of the investigation was to study the correlation between this h-GR/NR3C1 gene polymorphism and occurrence of asthma in the population of Polish asthmatics. Peripheral blood was obtained from 70 healthy volunteers and 59 asthma patients. Structuralized anamnesis, spirometry and allergy skin prick tests were performed in all participants. Genotyping was carried out with PCR–RFLP method. In healthy, non-atopic population variants of Bcl I: GG, GC, CC were found with frequency 0.129/0.471/0.400, respectively. In asthma patients Bcl I: GG, GC, CC occurred with respective frequencies of 0.410/0.462/0.128. Chi-square analysis revealed a significantly different (P < 0.05) distribution between cases and controls for the Bcl I polymorphism. The Bcl I polymorphism of h-GR/NR3C1 gene is significantly associated with bronchial asthma, susceptibility to the development of severe form and resistance to GCs in Polish population.

No associations of the mineralocorticoid and glucocorticoid receptor genes with asthma: Table 1–

“…rs6195, rs41423247) were associated with asthma [3,4]. Our results do not support the findings of these previous studies, specifically not those suggesting that a mutation (G/C) within rs41423247 in NR3C1 would have a protective effect on asthma development [4]. However, this association was shown in merely one study including only 59 adults with asthma and 70 healthy adults.…”

“…However, this association was shown in merely one study including only 59 adults with asthma and 70 healthy adults. Since we found neither an association between rs41423247 and asthma in 1,434 adolescents (OR 0.99, 95% CI 0.76-1.28) nor in 998 adult individuals (OR 0.96, 95% CI 0.80-1.15), we feel that the findings from the study of PIETRAS et al [4] may be due to chance.…”

“…So far, two studies have found an association between SNPs in NR3C1 (i.e. rs6195, rs41423247) and asthma development [3,4]. However, these results have not been replicated in other populations so far.…”

“…The most frequently reported psychiatric adverse drug reaction associated with montelukast was nightmares [4]. The incidence of nightmares is difficult to establish.…”

Bcl1 polymorphism of glucocorticoid receptor gene in patients with bronchial asthma with obesity

“…Depending on population, G-allele frequency of the polymorphism constitutes more than 30 %. Some investigations have proved the association of BclI polymorphism with body mass index (BMI) and abdominal obesity [10,11]; a few studies have shown its association with BA [12]. Still, no investigations related to the connection of BclI polymorphism with body mass index in BA patients were carried out.…”