Spontaneous pheumothorax and connective tissue dysplasia: molecular and genetic analysis

Abstract

Summary. To evaluate a role of polymorphic variants of alpha1-antitrypsin (AAT) genes and matrix metalloproteinase (MMP) genes for heritable susceptibility to bullous emphysema and primary spontaneous pneumothorax (PSP) in patients with connective tissue dysplasia (CTD), we analyzed polymorphic loci of PIZ (Glu342Lys), PIS (Glu264Val), MMP1 (1607insG), MMP9 (C-1562T), MMP12 (A-82G), and TIMP1 (С536Т) genes and studied serum AAT concentration. We did not find any significant difference between prevalence of the Z- and S-mutations of PI gene and serum AAT concentration between groups. MMP1 homozygous GG/GG genotype was associated with risk of PSP development (odds ratio (OR), 2.23; 95 % confidence interval (СI): 1.34–3.73), MMP1 GG allele (OR, 2.27; 95 % CI: 1.61–3.20), MMP9 heterozigous С/Т genotype (OR, 2.43; 95%CI: 1.37–4.31), MMP9 homozygous Т/Т genotype (OR, 4.38; 95 % CI: 1.12–20.00), MMP9 T allele (OR, 2.78; 95 % CI: 1.74–4.46). All alleles and genotypes were found significantly more often in patients with signs of CTD. No statistically significant difference for any polymorphic locus of the studied genes was seen between prevalence of allele variants in patients with PSP but not having CTD and in population sample.