Premium
The Trp64Arg polymorphism in the β 3 ‐adrenergic receptor gene is not associated with pulmonary function in cystic fibrosis
Author(s) -
Büscher Rainer,
Lax Hildegard,
Ratjen Felix,
Grasemann Hartmut
Publication year - 2006
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.20.4.a671-b
Subject(s) - cystic fibrosis , genotype , medicine , quartile , gastroenterology , pulmonary function testing , adrenergic receptor , allele , adrenergic , receptor , gene , biology , genetics , confidence interval
OBJECTIVE As cystic fibrosis (CF) phenotypes are highly variable even in patients carrying the same CFTR mutations, it has been suggested that the course of CF lung disease is influenced by modifying genes other than CFTR. There is recent evidence that CFTR activity isalso regulated through β 3 ‐adrenergic receptor (β 3 ‐AR) stimulation. We therefore investigated whether polymorphisms in the β 3 ‐AR gene contribute to the course of pulmonary function in CF. METHODS The Trp64Arg β 3 ‐AR polymorphism was studied by RFLP analysis in 99 CF patients. β 3 ‐AR genotypes were related to the annual decline of FEV1, FVC and MEF50 and to age at first infection with P. aeruginosa . RESULTS Genotype distribution was Trp64Trp n=84, Trp64Arg n=14, and Arg64Arg n=1. Frequencies of the β 3 ‐AR alleles in CF patients were similar compared to healthy controls. Mean (±SD) follow‐up was 14.3±7.8 years. Mean (±SEM) annual decline of pulmonary function was 1.8±0.2 for FEV1, 1.3±0.2 for FVC, and 3.4±0.3 for MEF50. The course of pulmonary function was not different between β 3 ‐AR genotypes. There was also no difference in age at first P. aeruginosa infection . Median age at first infection was 7.5 years (quartiles 3.8‐15.2 years) in Trp64Trp and 5.7 years (quartiles 3.5‐9.4 years) in Trp64Arg patients (p=0.2, Wilcoxon sign rank test). CONCLUSIONS The Trp64Arg β 3 ‐AR gene polymorphism was not associated with the course of pulmonary function or with P. aeruginosa airway infection in CF. Therefore, these data do not suggest that the β 3 ‐AR gene acts as a modifier of CF lung disease.