ArticleBMC medical genetics2010
Polymorphism of SERPINE2 gene is associated with pulmonary emphysema in consecutive autopsy cases.
Article in BMC medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- Anticoagulant SERPINs: Endogenous Regulators of Hemostasis and Thrombosis.Frontiers in cardiovascular medicine · 2022Review
- Haplotype inInternational journal of molecular sciences · 2019Article
- Functional characterization of a SNP (F51S) found in human alpha 1-antitrypsin.Molecular genetics & genomic medicine · 2019Article
- Article
- Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits.European journal of human genetics : EJHG · 2019Article
- Interactions between single nucleotide polymorphism ofInternational journal of chronic obstructive pulmonary disease · 2017Article
- Genetic polymorphism and chronic obstructive pulmonary disease.International journal of chronic obstructive pulmonary disease · 2017Review
- Exploring the interaction among EPHX1, GSTP1, SERPINE2, and TGFB1 contributing to the quantitative traits of chronic obstructive pulmonary disease in Chinese Han population.Human genomics · 2016Article
- Genetic determinants of chronic obstructive pulmonary disease in South Indian male smokers.PloS one · 2014Article
- Robust prediction of anti-cancer drug sensitivity and sensitivity-specific biomarker.PloS one · 2014Article
- Association of genes of protease-antiprotease balance pathway to lung function and emphysema subtypes.BMC pulmonary medicine · 2013Article
- Maternal allergen exposure reprograms the developmental lung transcriptome in atopic and normoresponsive rat pups.American journal of physiology. Lung cellular and molecular physiology · 2012Article
- Involvement of surfactant protein D in emphysema revealed by genetic association study.European journal of human genetics : EJHG · 2012Article
- Structural effects of linkage disequilibrium on the transcriptome.RNA (New York, N.Y.) · 2012Article
- Updates on the COPD gene list.International journal of chronic obstructive pulmonary disease · 2012Review
- SERPINE2 haplotype as a risk factor for panlobular type of emphysema.BMC medical genetics · 2011Article
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe SERPINA1, SERPINA3, and SERPINE2 genes, which encode antiproteases, have been proposed to be susceptible genes for of chronic obstructive pulmonary disease (COPD) and related phenotypes. Whether they are associated with emphysema is not known.
methodsTwelve previously reported single nucleotide polymorphisms (SNPs) in SERPINA1 (rs8004738, rs17751769, rs709932, rs11832, rs1303, rs28929474, and rs17580), SERPINA3 (rs4934, rs17473, and rs1800463), and SERPINE2 (rs840088 and rs975278) were genotyped in samples obtained from 1,335 consecutive autopsies of elderly Japanese people. The association between these SNPs and the severity of emphysema, as assessed using macroscopic scores, was determined.
resultsEmphysema of more than moderate degree was detected in 189 subjects (14.1%) and showed a significant gender difference (males, 20.5% and females, 7.0%; p < 0.0001). Among the 12 examined SNPs, only rs975278 in the SERPINE2 gene was positively associated with emphysema. Unlike the major alleles, homozygous minor alleles of rs975278 were associated with emphysema (odds ratio (OR) = 1.54; 95% confidence interval (CI) = 1.02-2.30; p = 0.037) and the association was very prominent in smokers (OR = 2.02; 95% CI = 1.29-3.15; p = 0.002).
conclusionsSERPINE2 may be a risk factor for the development of emphysema and its association with emphysema may be stronger in smokers.
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