Association between VANGL1 gene polymorphisms and neural tube defects

Area of Science:

• Genetics
• Developmental Biology
• Public Health

Background:

• Neural tube defects (NTDs) represent a significant category of severe congenital malformations.
• Understanding the genetic underpinnings of NTDs is crucial for developing preventative strategies.
• The VANGL1 gene is a potential candidate involved in the etiology of NTDs.

Purpose of the Study:

• To investigate the association between specific single nucleotide polymorphisms (SNPs) in the VANGL1 gene and the occurrence of NTDs.
• To analyze the genetic and protein structural implications of identified VANGL1 polymorphisms in a Han Chinese population.

Main Methods:

• Case-control study involving 135 NTD cases and 135 controls from a Han population in Northern China.
• Polymerase chain reaction (PCR) and sequencing were employed to analyze VANGL1 gene SNPs (rs4839469 and rs34059106).
• Statistical analysis of genotype and allele frequencies, along with prediction of protein spatial structure.

Main Results:

• The VANGL1 rs4839469 polymorphism (c.346G>A) showed significant differences in allele and genotype distributions between NTD cases and controls (p=0.036 and p=0.010, respectively).
• The rs4839469 genotype GC demonstrated a significantly increased odds ratio (10.241) for NTDs compared to the GG genotype.
• The rs34059106 polymorphism did not show a significant correlation with NTDs in this cohort.

Conclusions:

• The VANGL1 rs4839469 polymorphism is significantly associated with an increased risk of neural tube defects.
• The identified rs4839469 genotype GC is a risk factor for NTDs, potentially due to altered protein structure affecting biological function.
• The rs34059106 polymorphism of VANGL1 is not significantly correlated with NTDs in the studied population.