Association between the rs3795879 G/A polymorphism of the SERPINE2 gene and chronic obstructive pulmonary disease: a meta-analysis

Tian, Daofeng; Cai, Sanjun; Pan, Guixia; Zhang, Y F; Xiao, Jianpeng

doi:10.4238/2015.july.14.18

Cited by 2 publications

(2 citation statements)

References 23 publications

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“…Moreover, the lead SNV for MRPL44 is located in the promoter region of the SERPINE2 gene, for which the association was suggestive ( p = 1.47e–5). SERPINE2 is a serine protease inhibitor and is a known susceptibility gene for chronic obstructive pulmonary disease [53], emphysema [54] and asthma [55]. Our findings suggest a novel role of SERPINE2 in eosinophils.…”

Section: Discussionmentioning

confidence: 77%

Exploring rare and low-frequency variants in the Saguenay–Lac-Saint-Jean population identified genes associated with asthma and allergy traits

et al. 2018

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The Saguenay-Lac-Saint-Jean (SLSJ) region is located in northeastern Quebec and is known for its unique demographic history and founder effect. As founder populations are enriched with population-specific variants, we characterized the variants distribution in SLSJ and compared it with four European populations (Finnish, Sweden, United Kingdom and France), of which the Finnish population is another founder population. Targeted sequencing of the coding and non-coding immune regulatory regions of the SLSJ asthma familial cohort and the four European populations were performed. Rare and low-frequency coding and non-coding regulatory variants identified in the SLSJ population were then investigated for variant- and gene-level associations with asthma and allergy-related traits (eosinophil percentage, immunoglobulin (Ig) E levels and lung function). Our data showed that (1) rare or deleterious variants were not enriched in the two founder populations as compared with the three non-founder European populations; (2) a larger proportion of founder population-specific variants occurred with higher frequencies; and (3) low-frequency variants appeared to be more deleterious. Furthermore, a rare variant, rs1386931, located in the 3'-UTR of CXCR6 and intron of FYCO1 was found to be associated with eosinophil percentage. Gene-based analyses identified NRP2, MRPL44 and SERPINE2 to be associated with various asthma and allergy-related traits. Our study demonstrated the usefulness of using a founder population to identify new genes associated with asthma and allergy-related traits; thus better understand the genes and pathways implicated in pathophysiology.

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Section: Discussionmentioning

confidence: 77%

Exploring rare and low-frequency variants in the Saguenay–Lac-Saint-Jean population identified genes associated with asthma and allergy traits

et al. 2018

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“…However, all of them were graded as weak evidence of association with COPD risk. Additionally, 5 variants ( TGF - β1 rs1800469, MMP-1 rs1799750, SERPINE2 rs3795879, and CHRNA rs578776 and rs588765) in 4 genes showed convincing evidence of no association with COPD risk in meta-analyses that included a minimum of 2400 cases and 3000 controls [ 34 , 62 , 67 , 68 ].…”

Section: Resultsmentioning

confidence: 99%

Genetic Variants Associated with Chronic Obstructive Pulmonary Disease Risk: Cumulative Epidemiological Evidence from Meta-Analyses and Genome-Wide Association Studies

Liu

Ran

et al. 2022

Canadian Respiratory Journal

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Background. Last two decades, many association studies on genetic variants and chronic obstructive pulmonary disease (COPD) risk have been published. But results from different studies are inconsistent. Therefore, we performed this article to systematically evaluate results from previous meta-analyses and genome-wide association studies (GWASs). Material and Methods. Firstly, we retrieved meta-analyses in PubMed, Embase, and China National Knowledge Infrastructure and GWASs in PubMed and GWAS catalog on or before April 7th, 2022. Then, data were extracted and screened. Finally, two main methods—Venice criteria and false-positive report probability test—were used to evaluate significant associations. Results. As a result, eighty-eight meta-analyses and 5 GWASs were deemed eligible for inclusion. Fifty variants in 26 genes obtained from meta-analyses were significantly associated with COPD risk. Cumulative epidemiological evidence of an association was graded as strong for 10 variants in 8 genes (GSTM1, CHRNA, ADAM33, SP-D, TNF-α, VDBP, HMOX1, and HHIP), moderate for 6 variants in 5 genes (PI, GSTM1, ADAM33, TNF-α, and VDBP), and weak for 40 variants in 23 genes. Five variants in 4 genes showed convincing evidence of no association with COPD risk in meta-analyses. Additionally, 29 SNPs identified in GWASs were proved to be noteworthy based on the FPRP test. Conclusion. In summary, more than half (52.38%) of genetic variants reported in previous meta-analyses showed no association with COPD risk. However, 13 variants in 9 genes had moderate to strong evidence for an association. This article can serve as a useful reference for further studies.

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Association between the rs3795879 G/A polymorphism of the SERPINE2 gene and chronic obstructive pulmonary disease: a meta-analysis

Cited by 2 publications

References 23 publications

Exploring rare and low-frequency variants in the Saguenay–Lac-Saint-Jean population identified genes associated with asthma and allergy traits

Exploring rare and low-frequency variants in the Saguenay–Lac-Saint-Jean population identified genes associated with asthma and allergy traits

Genetic Variants Associated with Chronic Obstructive Pulmonary Disease Risk: Cumulative Epidemiological Evidence from Meta-Analyses and Genome-Wide Association Studies

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