Association between / 中国当代儿科杂志

OBJECTIVES@#To study the association of β2-drenergic receptor (@*METHODS@#A total of 143 children with asthma who attended the hospital from October 2016 to October 2020 were enrolled as the asthma group, among whom 61 children had mild symptoms (mild group) and 82 children had moderate-to-severe symptoms (moderate-to-severe group). A total of 137 healthy children were enrolled as the control group. Peripheral venous blood samples were collected from the two groups. The SNaPshot SNP technique was used to analyze the SNP and haplotypes of the @*RESULTS@#Polymorphisms were observed in the @*CONCLUSIONS@#SNP/haplotype of the

Correlation between ADRB2 gene polymorphism and childhood bronchial asthma susceptibility and drug resis-tance / 中华实用儿科临床杂志

Objective To discuss the association between ADRB2 gene polymorphism of rs1042713, rs1042714 locus and susceptibility of childhood bronchial asthma and response to the treatment,and to understant the preliminary pathogenesis of asthma preliminary. Methods The oral epithelial cells of children in asthma case group from the outpatient or inpatients at the Zhengzhou Children′s Hospital (173 cases)and healthy control group (166 ca-ses)were collec-ted. The genotypes of ADRB2 gene encoding area rs1042713 locus and rs1042714 were tested by the mean of Taqman probe real-time fluorescent quantitative PCR,and the difference was analyzed. The therapeutic effects between 2 groups were compared,and then the differences in the amino acid sequence and protein structure correspon-ding genotypes of ADRB2 genes were investigated by using bioinformatics analysis. Results There were statistical differences in genotype frequency and allele frequency of rs1042713 locus between asthma case group and healthy con-trol group(P = 0. 001,0. 000),but no difference at rs1042714 locus(P = 0. 159,0. 061). GG genotype of rs1042713 locus had significant differences in adjusting the drug dosage with AA,AG genotype patients(H = 12. 583,P = 0. 002), but the different genotype of rs1042714 locus had no significant differences in adjusting the drug dosage(H = 2. 696, P = 0. 260). The polymorphism of rs1042713 locus caused protein local structure changes,but the homologous protein structure of rs1042714 locus caused no changes. Conclusions ADRB2 gene polymorphism of rs1042713 locus is not only associated with the susceptibility of childhood bronchial asthma,but also has an effect on β2-receptor agonist treatment to a certain extent. But polymorphism of rs1042714 locus may not be associated with the susceptibility of asth-ma and the response to treatment. The reason may be different genotypes leading to different protein structures and bio-logical functions. The mechanism may be related to the structural and functional differences of protein structures corre-sponding to different genotypes.

Influence of polymorphisms of the beta-2 adrenergic receptor on the presence of exercise-induced bronchospasm in adolescents / Influência dos polimorfismos no receptor beta 2 adrenérgico na presença de broncoespasmo induzido pelo exercício em adolescentes

To determine the influence of polymorphisms of the beta-2 adrenergic receptor (ADRB2) in triggering exercise-induced bronchospasm (EIB) in adolescents. Methods: The subjects were divided into two groups: present EIB (EIB+) (n=45) and absent EIB (EIB−) (n=115). The bronchial provocation test with exercise was performed with a protocol that consisted of walking/running for at least eight minutes at high intensity, i.e., >85% of maximum heart rate, considering EIB+ as a 10% decrease in forced expiratory volume in one second (FEV1). The genotyping of the ADRB2 gene was performed by the Taqman method, using the Step One Plus system. Independent t-test, Mann–Whitney and Chi-square tests, as well as Spearman's correlation coefficient were used for the statistical analysis. Results: Age, body weight, height, FEV1, FVC and FEV1/FVC ratio were lower in the EIB+ group when compared to EIB− (p<0.05). There were no significant differences in the proportion of the allele at position 27 and Arg16Gly and Gln27Glu genotypes between the EIB+ and EIB− groups (p=0.26; p=0.97 and p=0.43, respectively). However, there was a trend toward statistical significance regarding the greater proportion of the Gly16 allele for the EIB+ when compared to the EIB− group (p=0.08). Conclusions: The presence of polymorphisms associated with the Glu27 allele and Arg16Gly and Gln27Glu genotypes had no influence on EIB. However, the statistical trend toward greater frequency of the Gly16 allele in individuals with EIB+ can be considered evidence of the influence of polymorphisms of the ADBR2 gene on EIB in adolescents.

Determinar a influência dos polimorfismos dos receptores adrenérgicos beta 2 (ADRB2) no desencadeamento de broncoespasmo induzido pelo exercício (BIE) em adolescentes. Métodos: Os sujeitos foram divididos em dois grupos: BIE presente (BIE+) (n=45) e BIE ausente (BIE−) (n=115). O teste de broncoprovocação com exercício foi feito com protocolo que consistiu em caminhar/correr durante no mínimo oito minutos em intensidade superior a 85% da frequência cardíaca máxima, considerando como BIE presente uma queda de 10% do volume expiratório forçado no primeiro segundo (VEF1). A genotipagem do gene ADRB2 foi feita pelo método Taqman por meio do aparelho Step One Plus. Para análise estatística usaram-se os testes t independente, U de Mann-Whitney, qui-quadrado e coeficiente de correlação de Spearman. Resultados: Idade, massa corporal, estatura, VEF1, CVF e relação VEF1/CVF foram menores no grupo BIE+ em comparação com o BIE− (p<0,05). Não houve diferenças significativas na proporção do alelo na posição 27 e dos genótipos Arg16Gly e Gln27Glu entre os grupos BIE+ e BIE− (p=0,26; p=0,97 e p=0,43, respectivamente). Entretanto, verificou-se uma tendência à significância estatística na maior proporção do alelo Gly16 para o grupo BIE+ comparado com o BIE− (p=0,08). Conclusões: A presença de polimorfismos associados ao alelo Glu27 e os genótipos Arg16Gly e Gln27Glu não influenciam no BIE. Porém, a tendência estatística observada para uma maior frequência do alelo Gly16 nos indivíduos com a presença de BIE pode ser considerado indício da influência de polimorfismos no gene ADBR2 no BIE em adolescentes.

Beta 2-adrenergic receptor gene association with overweight and asthma in children and adolescents and its relationship with physical fitness / Associação do gene ADRB2 com sobrepeso e asma em crianças e adolescentes e sua relação com a aptidão física

Objective: To investigate the association of Arg16Gly and Gln27Glu polymorphisms of β2-adrenergic receptor gene (ADRB2) with the occurrence of asthma and overweight and the gene's influence on anthropometric, clinic, biochemical and physical fitness variables in children and adolescents. Methods: Subjects were evaluated for allelic frequencies of the β2-adrenergic receptor gene, height, weight, body mass index (BMI), BMI Z-score, waist circumference (WC), pubertal stage, resting heart rate (HRres), blood pressure (BP), total cholesterol (TC), glucose, insulin, high density lipoprotein (HDL-C), low density lipoprotein (LDL-C), triglyceride (TG), Homeostasis Metabolic Assessment (HOMA2-IR), Quantitative Insulin Sensitivity Check Index (QUICKI) and maximal oxygen uptake (VO2max). The participants were divided in four groups: overweight asthmatic (n=39), overweight non-asthmatic (n=115), normal weight asthmatic (n=12), and normal weight non-asthmatic (n=40). Results: Regarding the Gln27Glu polymorphism, higher total cholesterol was observed in usual genotype individuals than in genetic variant carriers (p=0.04). No evidence was found that the evaluated polymorphisms are influencing the physical fitness. The Arg16 allele was found more frequently among the normal weight asthmatic group when compared to the normal weight non-asthmatic group (p=0.02), and the Glu27 allele was more frequently found in the overweight asthmatics group when compared to the normal weight non-asthmatic group (p=0.03). Conclusions: The association of Arg16 allele with the occurrence of asthma and of the Glu27 allele with overweight asthmatic adolescents evidenced the contribution of the β2-adrenergic receptor gene to the development of obesity and asthma.

Objetivo: Investigar a associação dos polimorfismos Arg16Gly e Gln27Glu do gene receptor β2-adrenérgico (ADRB2) com a ocorrência de asma e sobrepeso, bem como a influência do gene sobre variáveis antropométricas, clínicas, bioquímicas e de aptidão física em crianças e adolescentes. Métodos: Os indivíduos foram avaliados quanto à frequência alélica do gene ADRB2, estatura, peso, índice de massa corporal, IMC-escore Z, circunferência abdominal, estágio puberal, frequência cardíaca de repouso, pressão arterial, colesterol total, glicose, insulina, lipoproteína de alta densidade, lipoproteína de baixa densidade, triglicerídeos, Homeostasis Metabolic Assessment (HOMA2-IR), Quantitative Insulin Sensitivity Check Index (QUICKI) e consumo máximo de oxigênio (VO2max). Os participantes foram divididos em quatro grupos: sobrepeso asmático (n=39), sobrepeso não asmático (n=115), peso normal asmático (n=12) e peso normal não asmático (n=40). Resultados: Com relação ao polimorfismo Gln27Glu, foi observado maior valor de colesterol total nos indivíduos do genótipo usual do que naqueles que carregam a variante (p=0,04). Não foi encontrada evidência de que os polimorfismos avaliados influenciem a aptidão física. O alelo Arg16 foi encontrado em maior frequência no grupo de peso normal asmático comparado com o grupo de peso normal não asmático (p=0,02) e o alelo Glu27 foi mais frequentemente encontrado no grupo de sobrepeso asmático comparado com o grupo de peso normal não asmático (p=0,03). Conclusões: A associação do alelo Arg16 com a ocorrência de asma e a associação do alelo Glu27 com adolescentes com sobrepeso asmáticos evidenciam a contribuição do gene ADBR2 para o desenvolvimento da obesidade e da asma.

Preliminary study on association of β2 - Adrenergic Receptor Polymorphism with hypertension in hypertensive subjects attending Balok Health Centre, Kuantan

Polymorphisms within the β2-adrenergic receptor (ADRB2) gene have been repeatedly linked to hypertension. Among the ADRB2 polymorphisms detected, Arg16Gly and Gln27Glu codons are considered the two most important variations. The amino acid substitution at these codons may lead to abnormal regulation of ADRB2 activity. The aim of the present study was to assess the association between ADRB2 polymorphisms and hypertension. This case-control study consisted of 100 unrelated subjects (50 hypertensive and 50 matched normal controls). Arg16Gly and the Gln27Glu polymorphisms were analyzed by polymerase chain reactionrestriction fragment length polymorphism assay. There were no significant evidence of association in allelic and genotypes distribution of Arg16Gly and Glu27Gln with blood pressure and hypertension. These findings suggest that the variation within codon 16 and 27 of ADRB2 gene were unlikely to confer genetic susceptibility for hypertension in our population samples.