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PDGFA gene rs9690350 polymorphism increases biliary atresia risk in Chinese children

Fei Liu1, Jixiao Zeng1, Deli Zhu1

  • 1Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.

Bioscience Reports
|July 15, 2020
PubMed

Insights

Genetic variants in Platelet-Derived Growth Factor Subunit A (PDGFA) are linked to biliary atresia (BA) risk in infants. The rs9690350 G allele in PDGFA increases susceptibility to BA and non-cystic BA.

Area of Science:

  • Genetics
  • Pediatric Gastroenterology
  • Molecular Biology

Background:

  • Biliary atresia (BA) is a severe neonatal cholestatic liver disease with unclear pathogenesis.
  • Platelet-derived growth factor subunit A (PDGFA) is implicated in liver fibrosis, and its overexpression may contribute to BA development.
  • Genetic factors are suspected to play a role in BA etiology.

Purpose of the Study:

  • To investigate the association between genetic variants in PDGFA and the susceptibility to biliary atresia (BA).
  • To explore the potential of PDGFA polymorphisms as biomarkers for BA risk and disease severity.

Main Methods:

  • A large case-control cohort study was conducted.
  • The study included 506 BA cases and 1473 controls from the Southern Chinese population.
  • Genetic variants in PDGFA, specifically the rs9690350 (G>C) polymorphism, were analyzed.

Main Results:

  • The G allele of rs9690350 in PDGFA was significantly associated with an increased risk of BA (OR = 1.24, P=0.02).
  • This G allele also increased the risk of non-cystic biliary atresia (OR = 1.26, P=0.02).
  • The rs9690350 G allele was identified as a genetic biomarker for severe post-operative manifestations in BA patients.

Conclusions:

  • The rs9690350 G allele in PDGFA is a genetic polymorphism associated with increased susceptibility to biliary atresia.
  • This finding suggests a potential role for PDGFA in BA pathogenesis.
  • PDGFA genetic variants may serve as biomarkers for BA risk and disease severity.

Keywords:
GWASPDGFAbiliary atresiapolymorphismsusceptibility

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