Single-nucleotide polymorphisms in the TSPYL-4 and NT5DC1 genes are associated with susceptibility to chronic obstructive pulmonary disease

2012 ◽  
Vol 6 (3) ◽  
pp. 631-638 ◽  
Author(s):  
YI GUO ◽  
YI GONG ◽  
GUOCHAO SHI ◽  
KUN YANG ◽  
CHUNMING PAN ◽  
...  
Keyword(s):  
Chronic Obstructive Pulmonary Disease ◽  
Single Nucleotide Polymorphisms ◽  
Pulmonary Disease ◽  
Chronic Obstructive ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Obstructive Pulmonary Disease

scholarly journals Effects of Single Nucleotide Polymorphisms 869 T/C in the Exon 1 Locus of Transforming Growth Factor-β1 Gene on Susceptibility and Airflow Restriction of Chronic Obstructive Pulmonary Disease

2021 ◽  
Author(s):  
Jie Liu ◽  
Wenjing Zhu
Keyword(s):  
Chronic Obstructive Pulmonary Disease ◽  
Single Nucleotide Polymorphisms ◽  
Healthy Volunteers ◽  
Chronic Obstructive ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Obstructive Pulmonary Disease ◽  
Genotype Frequencies ◽  
Copd Patients ◽  
Tgf Β1

Abstract Background: Chronic obstructive pulmonary disease (COPD) is the most common chronic respiratory disease which is expected to become the third leading cause of death worldwide in 2030. Series of susceptibility genes and single nucleotide polymorphism (SNPs) play an important role in the occurrence and development of COPD.Methods: In our study, 98 COPD patients and 90 healthy volunteers were enrolled. The +869 SNP (SNP, Single Nucleotide Polymorphisms) of TGF-β1 was detected in 98 COPD patients and 90 healthy volunteers by PCR-DNA sequencing. The effects of different genotypes of +869 locus on the susceptibility of COPD, pulmonary function and airflow limitation of COPD patients were analyzed.Results: Allele C of +869 locus was associated with the susceptibility of COPD (OR:1.913, 95% CI: 1.251-2.926). The predicted value of FEV1% (FEV1, Forced Expiratory Volume in One Second) in patients with CC of +869 locus was significantly lower than that in patients with TT (P < 0.05). The genotype frequencies of CC, CT and TT were 6.5%, 58.7% and 34.8% in Mild-to-Moderate airflow restriction patients. In severe airflow restriction patients, the genotype frequencies were CC 23.1%, CT 57.7% and TT 19.2%. The distribution of CC genotype in severe airflow restriction COPD patients was significantly higher than that in Mild-to-Moderate airflow restriction COPD patients (P = 0.037). Moreover, the frequency of C allele was significantly higher in patients with severe airflow restriction than that patients with Mild-to-Moderate airflow restriction (P = 0.024).Conclusions: The SNP of +869 T/C in TGF-β1 is closely related to the susceptibility of COPD and the airflow restriction of COPD patients.

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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