{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Tejwani V"],"funding":["NHLBI NIH HHS"],"pagination":["e003585"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12625879"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12(1)"],"pubmed_abstract":["<h4>Introduction</h4>There is an increased risk of chronic obstructive pulmonary disease (COPD) in heterozygotes for the alpha-1 antitrypsin (AAT) Z allele (PI*MZ), but there is significant variation in outcomes. Matrix metalloproteinases (MMPs) contribute to worse airway disease and emphysema. Given that the AAT protein is an antiprotease, we hypothesised that MMPs play a modifying role among AAT-deficient individuals.<h4>Methods</h4>We studied PI*MZ (n=39) and PI*ZZ (n=27) individuals from the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis Study cohort. MMP (MMP3, MMP9, MMP10, MMP12 and MMP15) gene expression was assessed in bronchoalveolar lavage cells and peripheral blood mononuclear cells. Plasma protein MMP (MMP3, MMP9, MMP10 and MMP12) expression was assessed usi"],"journal":["BMJ open respiratory research"],"pubmed_title":["Matrix metalloproteinases and disease severity among PI*MZ and PI*ZZ individuals in the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) cohort."],"pmcid":["PMC12625879"],"funding_grant_id":["UH2 HL123886","U01 HL112707","R01 HL127349","K23 HL173570","R01 HL141852"],"pubmed_authors":["Stoller JK","Bowler RP","Serban KA","Pratte KA","Ortega VE","Strange C","Tejwani V","Kaminski N"],"additional_accession":[]},"is_claimable":false,"name":"Matrix metalloproteinases and disease severity among PI*MZ and PI*ZZ individuals in the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) cohort.","description":"<h4>Introduction</h4>There is an increased risk of chronic obstructive pulmonary disease (COPD) in heterozygotes for the alpha-1 antitrypsin (AAT) Z allele (PI*MZ), but there is significant variation in outcomes. Matrix metalloproteinases (MMPs) contribute to worse airway disease and emphysema. Given that the AAT protein is an antiprotease, we hypothesised that MMPs play a modifying role among AAT-deficient individuals.<h4>Methods</h4>We studied PI*MZ (n=39) and PI*ZZ (n=27) individuals from the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis Study cohort. MMP (MMP3, MMP9, MMP10, MMP12 and MMP15) gene expression was assessed in bronchoalveolar lavage cells and peripheral blood mononuclear cells. Plasma protein MMP (MMP3, MMP9, MMP10 and MMP12) expression was assessed usi","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Nov","modification":"2026-06-06T06:55:07.123Z","creation":"2026-06-06T03:06:46.767Z"},"accession":"S-EPMC12625879","cross_references":{"pubmed":["41253406"],"doi":["10.1136/bmjresp-2025-003585"]}}