Association of multiple genetic variants with chronic obstructive pulmonary disease susceptibility in <scp>H</scp>ainan region

Ding, Yipeng; Niu, Huan; Zhou, Long; Chen, Jiannan; Xie, Shi-liang; Geng, Tingting; Ouyang, Yanhong; He, Ping; Sun, Peng; Tian, Feng; Jin, Tianbo

doi:10.1111/crj.12407

Cited by 4 publications

(2 citation statements)

References 26 publications

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“…rs9296092 is located in intergenic regions that lie in the gene region between the zinc finger and BTB domain containing 9 and BCL2-antagonist/killer1 (ZBTB9-BAK1) at chromosome 6 p21.32. Ding et al also reported that in a case-control study, rs9296092 was associated with the greatest increase in the risk of COPD in the Hainan Province of China [74]. In our current study, we found that the A allele of rs9296092 (OR = 1.832, 95% CI 1.005-3.34, P < 0.045) is also a risk factor for COPD development.…”

Section: The Role Of Six Risk Snps In Copdsupporting

confidence: 71%

Comparison and development of machine learning tools for the prediction of chronic obstructive pulmonary disease in the Chinese population

Zhang³

et al. 2020

J Transl Med

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Background: Chronic obstructive pulmonary disease (COPD) is a major public health problem and cause of mortality worldwide. However, COPD in the early stage is usually not recognized and diagnosed. It is necessary to establish a risk model to predict COPD development. Methods: A total of 441 COPD patients and 192 control subjects were recruited, and 101 single-nucleotide polymorphisms (SNPs) were determined using the MassArray assay. With 5 clinical features as well as SNPs, 6 predictive models were established and evaluated in the training set and test set by the confusion matrix AU-ROC, AU-PRC, sensitivity (recall), specificity, accuracy, F1 score, MCC, PPV (precision) and NPV. The selected features were ranked.

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Section: The Role Of Six Risk Snps In Copdsupporting

confidence: 71%

Comparison and development of machine learning tools for the prediction of chronic obstructive pulmonary disease in the Chinese population

Zhang³

et al. 2020

J Transl Med

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“…The COPD is more common in people who have a COPD family history 4 . The COPD was also showed a high risk in identical twins than fetal twins 5 , which means genetic factor play a key role in COPD etiology [6][7][8] . Therefore, to identify the genetic factor about smoking and inflammatory in COPD is beneficial to early prevention and accurate diagnosis of COPD.…”

Section: Introductionmentioning

confidence: 96%

Genetic Polymorphisms of CYP2C9/CYP2C19 in Chronic Obstructive Pulmonary Disease

Yang

et al. 2020

COPD: Journal of Chronic Obstructive Pulmonary Disease

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Inflammatory and Immune Response Genes Polymorphisms are Associated with Susceptibility to Chronic Obstructive Pulmonary Disease in Tatars Population from Russia

et al. 2016

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Chronic obstructive pulmonary disease (COPD) is a complex chronic inflammatory disease of the respiratory system affecting primarily distal respiratory pathways and lung parenchyma. This work was designed as a case-control study aimed at investigating the association of COPD with polymorphisms in inflammatory and immune response genes (JAK1, JAK3, STAT1, STAT3, NFKB1, IL17A, ADIPOQ, ADIPOR1, etc.) in Tatar population from Russia. Ten SNPs (rs310216, rs3212780, rs12693591, rs2293152, rs28362491, rs4711998, rs1974226, rs1501299, rs266729, and rs12733285) were genotyped by the real-time polymerase chain reaction (TaqMan assays) in a case-control study (425 COPD patients and 457 in the control group, from Ufa, Russia). Logistic regression was used to detect the association of SNPs in different models. Linear regression analyses were performed to estimate the relationship between SNPs and lung function parameters and pack-years. In Tatar population, significant associations of JAK1 (rs310216) (P = 0.0002, OR 1.70 in additive model), JAK3 (rs3212780) (P = 0.001, OR 1.61 in dominant model), and IL17A (rs1974226) (P = 0.0037, OR 2.31 in recessive model) with COPD were revealed. The disease risk was higher in carriers of insertion allele of NFKB1 (rs28362491) (P = 0.045, OR 1.22). We found a significant gene-by-environment interaction of smoking status and IL17A (rs1974226) (P interact = 0.016), JAK3 (rs3212780) (P interact = 0.031), ADIPOQ (rs266729) (P interact = 0.013), and ADIPOR1 (rs12733285) (P interact = 0.018). The relationship between the rs4711998, rs1974226, rs310216, rs3212780, rs28362491, and smoking pack-years was found (P = 0.045, P = 0.004, P = 0.0005, P = 0.021, and P = 0.042). A significant genotype-dependent variation of forced vital capacity was observed for NFKB1 (rs28362491) (P = 0.017), ADIPOR1 (rs12733285) (P = 0.043), and STAT1 (rs12693591) (P = 0.048). The genotypes of STAT1 (rs12693591) (P = 0.013) and JAK1 (rs310216) (P = 0.048) were associated with forced expiratory volume in 1 s.

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Association of multiple genetic variants with chronic obstructive pulmonary disease susceptibility in Hainan region

Abstract: This study is the first to provide evidence of importance of rs9296092 and rs950063 for risk of COPD in Hainan Province. Further studies are needed to characterize the functional sequences that cause COPD.

Cited by 4 publications

References 26 publications

Comparison and development of machine learning tools for the prediction of chronic obstructive pulmonary disease in the Chinese population

Comparison and development of machine learning tools for the prediction of chronic obstructive pulmonary disease in the Chinese population

Genetic Polymorphisms of CYP2C9/CYP2C19 in Chronic Obstructive Pulmonary Disease

Inflammatory and Immune Response Genes Polymorphisms are Associated with Susceptibility to Chronic Obstructive Pulmonary Disease in Tatars Population from Russia

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