A functional SNP upstream of the &lt;em&gt;ADRB2&lt;/em&gt; gene is associated with COPD

Li, Jinxiu; Fu, Wei; Zhang, Jing; Zhang, Xiaohua; Sun, Chang; Dai, Lu-Ming; Zhong, Li; Liu, Yu; Zhang, Yaping

doi:10.2147/copd.s151153

Cited by 11 publications

(7 citation statements)

References 38 publications

(47 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Some part of the investigations indicates, that a part of polymorphic or mutant alleles of ADRB2 gene is greater in patients with COPD, than in the control group without COPD [6]. Some authors considered a relation between the ADRV2 gene polymorphism and COPD development [18] and earlier COPD manifestation [11]. In our study we demonstrated a big part of polymorphic and mutant alleles in patients with COPD, but the weak point of our study is an absence of the control group.…”

Section: Discussioncontrasting

confidence: 57%

Features of the COPD course in patients with different alleles of C79G (rs1072714) of ADRB2 gene

Mostovoy

Dmytriiev

Slepchenko

2021

Biomed. and Biosoc. Anthrop.

View full text Add to dashboard Cite

Chronic obstructive pulmonary disease (COPD) is a widely spread disease, that can be prevented and treated. As it was mentioned in the GOLD guidelines, genetic factors have a prominent impact on the development of COPD. A great amount of different genes is involved into the development of COPD. They influence processes of inflammation, fibrosis and regulation of airways reactivity. Polymorphism of ADRB2 gene is of a particular interest as it is associated with the development of COPD and response to beta-2 agonists, which are the main drugs used in the treatment of COPD. The aim of our study was to investigate an impact of the polymorphism of ADRB2 gene on the clinical course of COPD. We collected source data, medical history in all patients in order to assess smoking status and smoking experience, clinical group of COPD according to GOLD classification, total amount of exacerbations, exacerbations treated in in-patient and out-patient conditions, data about use of antibiotics, glucocorticosteroids and methylxanthines. Blood was collected in all patients for the genetic analysis of ADRB2 gene polymorphism. Among COPD patients 65 (65 %) had changes in ADRB2 gene. 26 patients (26 %) had mutation and 39 patients (39 %) had polymorphism of ADRB2 gene, which indicate possible relation of ADRB2 gene with the COPD development. Patients of group 1, C79C allele carriers, had milder COPD course, which presented with the significant difference in the of GOLD D patients in this group (17.14±7.13 %) and group 2, C79G allele carriers, (58.97±8.15 %) and group 3, G79G allele carriers, (34.61±9.59 %). Group 1 patients had lower amount of exacerbations (2.543±0.281) when compared to group 3 (2.963±0.273), and lower amount of hospital admissions (1.031±0.154) when compared to group 2 (1.332±0.167). Group 1 patients also used less antibiotics then other groups. So, ADRB2 gene polymorphism in C79G positions is a prognostic factor of the severity of COPD course. It is associated with the greater amount of exacerbations and hospitalizations and also greater antibiotic use.

show abstract

Section: Discussioncontrasting

confidence: 57%

Features of the COPD course in patients with different alleles of C79G (rs1072714) of ADRB2 gene

Mostovoy

Dmytriiev

Slepchenko

2021

Biomed. and Biosoc. Anthrop.

View full text Add to dashboard Cite

show abstract

“… 20 It has been reported that it may be due to the genetic factors that play an indispensable role in the occurrence and development of COPD. 21 With the development of molecular biology, many genetic polymorphisms associated with lung function have been reported, such as HLA-DQB1-rs9273410, 22 TNF-A gene-308 G/A polymorphism, 23 ADRB2-rs12654778 24 and SREK1-rs74794265. 25 However, limited by race and sample size, only a small proportion of the population’s susceptibility to COPD can be explained.…”

Section: Discussionmentioning

confidence: 99%

Role of Genetic Polymorphisms in IL12Rβ2 in Chronic Obstructive Pulmonary Disease

Fu¹,

Liu²,

Wu³

2022

COPD

View full text Add to dashboard Cite

Background: Chronic obstructive pulmonary disease (COPD) is the most common chronic inflammatory airway disease. Il-12r beta 2 (IL-12Rβ2) is important for the production of pathogenic Th1 cells. We aimed to explore the association between IL-12Rβ2 genetic variants and COPD risk among southern Chinese Han population. Methods: We recruited 996 participants to perform an association analysis through SNPStats online software. We used false-positive report probability analysis to detect whether the positive findings were noteworthy. Haploview 4.2 software and SNPStats were used to conduct the haplotype analysis and linkage disequilibrium. Finally, the interaction of SNP-SNP in COPD risk was evaluated by multifactor dimensionality reduction. Results:The study found evidence that genetic loci in IL-12Rβ2 (rs2201584, rs1874791, rs6679356, and rs3790567) were potentially associated with the COPD susceptibility. In particular, IL-12Rβ2-rs2201584 and -rs1874791 showed close associations with COPD risk in both overall and several stratified analyses. Overall analysis or several stratified analyses indicated that allele A or homozygous genotype AA of IL-12Rβ2-rs2201584 were risk factors for COPD (Allele A: OR (95% CI) = 1.23 (1.02-1.48), p = 0.033; genotype AA: OR (95% CI) = 1.76 (1.15-2.69), p = 0.009). The allele A or homozygous genotype AA of IL-12Rβ2-rs1874791 were also risk factors for COPD (Allele A: OR (95% CI) = 1.36 (1.10-1.68), p = 0.004; genotype AA: OR (95% CI) = 2.17 (1.18-3.99), p = 0.013). Conclusion: Intronic variants in IL-12Rβ2 (rs2201584, rs1874791, rs6679356, and rs3790567) were associated with the COPD susceptibility. In particular, there were sufficient evidences that IL-12Rβ2-rs2201584 and -rs1874791 were associated with the increasing risk of COPD.

show abstract

“…Several GWAS have reported that multiple SNPs in the CXCL10 , 12 ADRB2 , 13 HHIP , 14 and SERPIN2 15 genes contribute to COPD susceptibility. However, association of the SNPs in the SREK1 gene with COPD is still poorly understood.…”

Section: Discussionmentioning

confidence: 99%

The rs74794265 SNP of the SREK1 Gene is Associated with COPD in Kashi, China

Abudureheman¹,

Li²,

Zhong³

et al. 2021

COPD

View full text Add to dashboard Cite

Background Kashi city is situated near the Taklamakan desert and has a high incidence rate of chronic obstructive pulmonary disease (COPD). In this study, we aimed to explore the relationship between the SNP of the SREK1 gene locus rs74794265 and the susceptibility to COPD among the Uyghur population in Kashi, XinJiang, China. Methods A total of 541 patients with COPD and 534 control subjects were included in this study. Sanger sequencing was used to analyze the SNP of the SREK1 gene locus rs74794265 site. The distribution of genotypes in different genetic models between the case and control group were analyzed by logistic regression analysis after adjusting for age, sex, and smoking history. Results The SREK1 gene SNP locus rs74794265 included two genotypes, namely, C/C and C/T, of which C/C was the wildtype; The risk of COPD was significantly lower in patients with heterozygous C/T in rs74794265 [ p =0.0236, OR=0.3677 (0.1547–0.8742)], and the allele frequency of T was also significantly lower in the patient group [ p =0.0245, OR=0.3728 (0.1577–0.8811)]. The heterozygous C/T of rs74794265 among non-smoking COPD patients was significantly lower than other COPD patients [ p =0.0298, OR=0.3217 (0.1156–0.8949)], and there was no significant correlation of the heterozygous C/T genotype in smokers. Conclusion We found that the rs74794265 heterozygous C/T genotype significantly reduces the risk of COPD. The C/T genotype is likely a protective factor for COPD in the Kashi region. We speculate that the occurrence of COPD in this area is probably more related to desert climate condition and genetic factors than smoking status.

show abstract

A functional SNP upstream of the <em>ADRB2</em> gene is associated with COPD

Cited by 11 publications

References 38 publications

Features of the COPD course in patients with different alleles of C79G (rs1072714) of ADRB2 gene

Features of the COPD course in patients with different alleles of C79G (rs1072714) of ADRB2 gene

Role of Genetic Polymorphisms in IL12Rβ2 in Chronic Obstructive Pulmonary Disease

The rs74794265 SNP of the SREK1 Gene is Associated with COPD in Kashi, China

Contact Info

Product

Resources

About