Evidence map›Paper›PMID 42343340›Full record

ArticleBMC pulmonary medicine2026

Influence of FAM13A gene polymorphism and serum matrix metalloproteinases 9 and 12 on the phenotypes of chronic obstructive pulmonary disease.

Di Zhao, Jiajun Zhang, Jin Zhang

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Article in BMC pulmonary medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

3 authors.

Di ZhaoThe First School of Clinical Medicine, Ningxia Medical University, 692 Shengli Street, Xingqing District, Yinchuan, 750004, China.
Jiajun ZhangDepartment of Respiratory and Critical Care Medicine, General Hospital of Ningxia Medical University, 804 Shengli Street, Xingqing District, Yinchuan, 750004, China.
Jin ZhangDepartment of Respiratory and Critical Care Medicine, General Hospital of Ningxia Medical University, 804 Shengli Street, Xingqing District, Yinchuan, 750004, China. 306087286@qq.com.

Funding

Key Research and Development Program of Ningxia Province 2021BEG02031
6 · The paper itself

Abstract

purposeFAM13A as a susceptibility gene for chronic obstructive pulmonary disease(COPD).Many studies verified that FAM13A involved epithelial‒mesenchymal transition (EMT) via the TGF-β1 pathway, some accompanied by an increase in MMP levels. The present study aimed to explore the disease susceptibility of the FAM13A gene, with clinical phenotypes, and investigate the relationships between FAM13A SNP loci and the serum levels of MMP-9 and MMP-12. PATIENTS AND

methodsWe recurited 497 patients with stable COPD patients and 303 healthy controls. Data on blood tests, pulmonary function, and HRCT imaging were collected. Serum MMP-9 and MMP-12 levels were measured by ELISA. Genomic DNA was extracted, and SNPs in the FAM13A gene were detected using targeted region genotyping chips. Logistic regression analysis was performed to assess the associations between SNP loci and COPD susceptibility. Differences in pulmonary function, haematological indicators, bronchial wall thickness, and emphysema parameters among different genotypes were evaluated. Multiple linear regression analysis was used to explore the relationship between genotypes and serum MMP-12 level.

resultsWe screened a total of 476 SNPs and identified the rs2869947 polymorphism in the FAM13A gene as significantly associated with an increased risk of COPD,Stratified analyses further revealed that this association was particularly in males and individual with BMI ≥ 24.Serum levels of MMP-9 and MMP-12 were significantly higher in COPD patients compared with healthy controls. Genotype(AA vs.GG) showed no significant association with pulmonary function severity,bronchial wall indices,hematological marker,and serum MMP-9 levels in COPD patients(P > 0.05).Compared with GG genotype, AA genotype presented significantly higher LAA-950% and serum MMP-12 levels (P = 0.049 and P = 0.023).

conclusionOur findings suggest that the FAM13A SNP rs2869947 may be associated with COPD susceptibility in the Han Chinese population. The FAM13A AA genotype increased serum MMP-12 levels and correlated with emphysema phenotype.

Indexed as

GTPase-Activating ProteinsMatrix Metalloproteinase 12Matrix Metalloproteinase 9Pulmonary Disease, Chronic ObstructiveAgedCase-Control StudiesFemaleGenetic Predisposition to DiseaseGenotypeHumansLogistic ModelsMaleMiddle AgedPhenotypePolymorphism, Single NucleotideRespiratory Function TestsFAM13A protein, humanGTPase-Activating ProteinsMatrix Metalloproteinase 12Matrix Metalloproteinase 9MMP12 protein, humanMMP9 protein, humanChronic Obstructive Pulmonary DiseaseEmphysema PhenotypeFAM13A GeneMatrix MetalloproteinasesSingle-Nucleotide Polymorphism

Identifiers

PMID42343340
PMCPMC13551843

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.