<i>Pi∗S</i> and <i>Pi∗Z</i> Alleles of <i>SERPINA1</i> Gene Are Associated With Specific Variants of a BRD4-Independent Enhancer.

ABSTRACT: Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder caused by specific variants in the SERPINA1 gene, which encodes AAT. The most common disease-associated SERPINA1 variants are Pi∗S and Pi∗Z alleles, which cause moderate and severe AATD, respectively. Recent studies have reported the presence of a possible regulator of SERPINA gene cluster expression (LOC126862032), which is suggested to act as a BRD4-Independent Enhancer (SERPINA-BIE). This study is aimed at characterizing the SERPINA-BIE locus and assessing possible associations with SERPINA1 AATD-related alleles. For this purpose, SERPINA-BIE was PCR genotyped from 917 samples, including 452 asthmatic patients, and 465 newborns. Nine SERPINA-BIE

SUBMITTER: Escuela-Escobar A 

PROVIDER: S-EPMC11924960 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature