scholarly journals Association analysis between chronic obstructive pulmonary disease and polymorphisms in circadian genes

PeerJ ◽  
2020 ◽  
Vol 8 ◽  
pp. e9806
Author(s):  
Guo Chen ◽  
Jingwei Zhang ◽  
Lijuan Zhang ◽  
Xuan Xiong ◽  
Dongke Yu ◽  
...  
Keyword(s):  
Chronic Obstructive Pulmonary Disease ◽  
Pulmonary Disease ◽  
Smoking Status ◽  
Chronic Obstructive ◽  
Lung Pathology ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Obstructive Pulmonary Disease ◽  
Circadian Genes ◽  
Significant Difference

Background Circadian genes have been suggested to play an important role in lung pathology. However, it remains unknown whether polymorphisms of these genes are associated with chronic obstructive pulmonary disease (COPD). Here, we aimed to investigate the association of circadian genes polymorphisms with COPD in a case-control study of 477 COPD patient and 323 control Han Chinese persons. Methods Genotyping assays were carried out for nine single nucleotide polymorphisms (SNPs) from five circadian genes (PER3, CLOCK, RORB, BMAL1 and CRY2) that were previously identified in lung pathology. Age, sex, BMI and smoking status and comorbidities were recorded for all subjects. Results No significant association was found in all SNP sites in overall subjects and no significant difference was found in age, sex, smoking status stratification analysis. Discussion The findings of this investigation indicated the effect of circadian genes polymorphisms on COPD susceptibility may only be small and possibly dependent on the subject factors, such as age and sex.

scholarly journals Amerindian Ancestry Influences Genetic Susceptibility to Chronic Obstructive Pulmonary Disease

2020 ◽  
Vol 10 (3) ◽  
pp. 93
Author(s):  
Roberto Díaz-Peña ◽  
Felix Boekstegers ◽  
Rafael S. Silva ◽  
Sergio Jaime ◽  
H. Dean Hosgood ◽  
...  
Keyword(s):  
Chronic Obstructive Pulmonary Disease ◽  
Pulmonary Disease ◽  
Association Studies ◽  
Genetic Ancestry ◽  
Chronic Obstructive ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Obstructive Pulmonary Disease ◽  
Genome Wide

The contribution of genetic ancestry on chronic obstructive pulmonary disease (COPD) predisposition remains unclear. To explore this relationship, we analyzed the associations between 754,159 single nucleotide polymorphisms (SNPs) and risk of COPD (n = 214 cases, 193 healthy controls) in Talca, Chile, considering the genetic ancestry and established risk factors. The proportion of Mapuche ancestry (PMA) was based on a panel of 45 Mapuche reference individuals. Five PRDM15 SNPs and two PPP1R12B SNPs were associate with COPD risk (p = 0.05 to 5 × 10−4) in those individuals with lower PMA. Based on linkage disequilibrium and sliding window analyses, an adjacent PRDM15 SNPs were associated with COPD risk in the lower PMA group (p = 10−3 to 3.77 × 10−8). Our study is the first to report an association between PPP1R12B and COPD risk, as well as effect modification between ethnicity and PRDM15 SNPs in determining COPD risk. Our results are biologically plausible given that PPP1R12B and PRDM15 are involved in immune dysfunction and autoimmunity, providing mechanistic evidence for COPD pathogenesis and highlighting the importance to conduct more genome wide association studies (GWAS) in admixed populations with Amerindian descent.

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