The allelic frequency for S and Z mutations in the SERPINA1 gene in NSCLC patients from Poland

Conclusions: The frequency of Pi*S and Pi*Z alleles in NSCLC patients differ noticeably from the general Polish population (Pi*Z 13.7/1000 and Pi*S 7.6/1000): the frequency of Pi*Z allele is lower whereas the frequency of Pi*S is higher. The NSCLC patients who carry AATD allele do not present reduced AAT concentration in blood as compared to the reference values from population studies. The study is on-going.

Source: European Respiratory Journal - December 6, 2017 Category: Respiratory Medicine Authors: Komorowski, M., Szpechcinski, A., Debek, E., Duk, K., Zdral, A., Florczuk, M., Rudzinski, P., Kupis, W., Zaleska, J., Langfort, R., Orlowski, T., Roszkowski-Sliz, K., Chorostowska-Wynimko, J. Tags: Molecular Pathology and Functional Genomics Source Type: research