Alleles
Cell Line, Tumor
Female
Gallbladder Neoplasms
/ genetics
Genes, Recessive
Genetic Association Studies
Genetic Predisposition to Disease
Haplotypes
/ genetics
Humans
Linkage Disequilibrium
/ genetics
Luciferases
/ metabolism
Male
Middle Aged
Models, Genetic
Polymorphism, Single Nucleotide
/ genetics
Risk Factors
Serpins
/ genetics
SERPINB5
gallbladder cancer
genetic association
rs2289519
rs2289520
rs2289521
Journal
DNA and cell biology
ISSN: 1557-7430
Titre abrégé: DNA Cell Biol
Pays: United States
ID NLM: 9004522
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
pubmed:
12
3
2021
medline:
13
5
2021
entrez:
11
3
2021
Statut:
ppublish
Résumé
Serine protease inhibitor b5 (SERPINB5) is a tumor suppressor gene that plays a critical role in various cellular processes. In gallbladder cancer (GBC), SERPINB5's aberrant expression is reported but its role in genetic predisposition is not known. We enrolled 270 cases and 296 controls and genotyped them for single nucleotide polymorphisms (SNPs) using direct DNA sequencing, followed by genotype-phenotype analysis in GBC and other cancer cell lines. Luciferase assay was done to determine the role of rs2289521 SNP on expression regulation. We found that two SERPINB5 variants rs2289519 and rs2289521 are significantly associated with GBC and contribute to genetic predisposition. The TT genotype of variant rs2289519 was found to be significantly associated (
Identifiants
pubmed: 33691472
doi: 10.1089/dna.2021.0056
doi:
Substances chimiques
SERPIN-B5
0
Serpins
0
Luciferases
EC 1.13.12.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM