Molecular characterization of PI*Shangzhou, a SERPINA1 allele from continental China encoding a defective alpha-1-antitrypsin

  1. Hernández-Pérez, José M.
  2. González Carracedo, Mario A. 1
  3. García, Angelines Concepción
  4. Pérez, José A. Pérez 1
  1. 1 Universidad de La Laguna
    info

    Universidad de La Laguna

    San Cristobal de La Laguna, España

    ROR https://ror.org/01r9z8p25

Journal:
Frontiers in Pediatrics

ISSN: 2296-2360

Year of publication: 2022

Volume: 10

Type: Article

DOI: 10.3389/FPED.2022.985892 GOOGLE SCHOLAR lock_openOpen access editor

More publications in: Frontiers in Pediatrics

Metrics

Cited by

  • Scopus Cited by: 0 (03-02-2023)
  • Web of Science Cited by: 0 (07-02-2023)

JCR (Journal Impact Factor)

(Indicator corresponding to the last year available on this portal, year 2021)
  • Year 2021
  • Journal Impact Factor: 3.569
  • Journal Impact Factor without self cites: 3.327
  • Article influence score: 0.923
  • Best Quartile: Q2
  • Area: PEDIATRICS Quartile: Q2 Rank in area: 38/130 (Ranking edition: SCIE)

SCImago Journal Rank

(Indicator corresponding to the last year available on this portal, year 2021)
  • Year 2021
  • SJR Journal Impact: 0.85
  • Best Quartile: Q1
  • Area: Pediatrics, Perinatology and Child Health Quartile: Q1 Rank in area: 56/320

Scopus CiteScore

(Indicator corresponding to the last year available on this portal, year 2021)
  • Year 2021
  • CiteScore of the Journal : 3.2
  • Area: Pediatrics, Perinatology and Child Health Percentile: 65

Journal Citation Indicator (JCI)

(Indicator corresponding to the last year available on this portal, year 2021)
  • Year 2021
  • Journal Citation Indicator (JCI): 1.02
  • Best Quartile: Q1
  • Area: PEDIATRICS Quartile: Q1 Rank in area: 40/184

Abstract

Alpha-1-antitrypsin deficiency (AATD) is a heritable condition that predisposes to respiratory and hepatic complications. Screenings in East Asia human populations for the AATD alleles most commonly found among Caucasians have yielded poor outcomes. Serum alpha-1-antitrypsin (AAT) levels, AAT phenotypes, and sequences of SERPINA1 gene were examined in a Chinese child with a moderate deficit of serum AAT, who had suffered several episodes of liver disease, as well as in his first-order relatives. Results allowed the identification of PI*Shangzhou, a novel SERPINA1 defective allele, which has been characterized by a L276R substitution, found in a SERPINA1-M3 genetic background. Moreover, potential effects of PI*Shangzhou mutation over the AAT structure were studied by 3D homology modeling. The presence of an arginine residue at position 276 could destabilize the tertiary structure of AAT, since it occurs at a highly conserved hydrophobic cavity in the protein surface, and very close to two positively-charged lysine residues. Attending to the frequency of R276 variant reported in databases for individuals of East Asian ancestry, the PI*Shangzhou allele may explain the global prevalence of the PiS phenotype observed in China.

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