PDGFA gene rs9690350 polymorphism increases biliary atresia risk in Chinese children.
Asian People
/ genetics
Biliary Atresia
/ diagnosis
Biomarkers
Case-Control Studies
China
/ epidemiology
Female
Genetic Predisposition to Disease
Humans
Infant
Male
Platelet-Derived Growth Factor
/ genetics
Polymorphism, Single Nucleotide
Risk Assessment
/ statistics & numerical data
Severity of Illness Index
Treatment Outcome
GWAS
PDGFA
biliary atresia
polymorphism
susceptibility
Journal
Bioscience reports
ISSN: 1573-4935
Titre abrégé: Biosci Rep
Pays: England
ID NLM: 8102797
Informations de publication
Date de publication:
31 07 2020
31 07 2020
Historique:
received:
24
01
2020
revised:
25
06
2020
accepted:
13
07
2020
pubmed:
15
7
2020
medline:
16
4
2021
entrez:
15
7
2020
Statut:
ppublish
Résumé
Biliary atresia (BA) is a genetic and severe fibro-inflammatory obliterative cholangiopathy of neonates. Platelet-derived growth factor subunit A (PDGFA), as one of participants in liver fibrosis, the overexpression of PDGFA through DNA hypomethylation may lead to the development of BA, but the pathogenesis is still unclear. We conducted a large case-control cohort to investigate the association of genetic variants in PDGFA with BA susceptibility in the Southern Chinese population (506 cases and 1473 controls). We observed that the G allele of rs9690350(G>C) in PDGFA was significantly associated with an increased risk of BA (OR = 1.24, 95% CI = 1.04-1.49, P=0.02). Additionally, the rs9690350 G allele increased the risk of non-cystic biliary atresia (OR = 1.26, 95% CI = 1.04-1.52, P=0.02) and was a genetic biomarker of severe manifestations after surgery. These findings indicate that the rs9690350 G allele is a PDGFA polymorphism associated with the risk of BA that may confer increased disease susceptibility.
Identifiants
pubmed: 32662506
pii: 225782
doi: 10.1042/BSR20200068
pmc: PMC7374268
pii:
doi:
Substances chimiques
Biomarkers
0
Platelet-Derived Growth Factor
0
platelet-derived growth factor A
0
Types de publication
Journal Article
Observational Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2020 The Author(s).
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