Association study of PARD3 gene polymorphisms with neural tube defects in a Chinese Han population

Reprod Sci. 2012 Jul;19(7):764-71. doi: 10.1177/1933719111433886. Epub 2012 Mar 22.

Abstract

Partitioning defective 3 homolog (PARD3) is an attractive candidate gene for screening neural tube defect (NTD) risk. To investigate the role of genetic variants in PARD3 on NTD risk, a case-control study was performed in a region of China with a high prevalence of NTDs. Total 53 single-nucleotide polymorphisms (SNPs) in PARD3 were genotyped in 224 fetuses with NTDs and in 253 normal fetuses. We found that 6 SNPs (rs2496720, rs2252655, rs3851068, rs118153230, rs10827337, and rs12218196) were statistically associated with NTDs (P < .05). After stratifying participants by NTD phenotypes, the significant association only existed in cases with anencephaly rather than spina bifida. Further haplotype analysis confirmed the association between PARD3 polymorphisms and NTD risk (global test P = 3.41e-008). Our results suggested that genetic variants in PARD3 were associated with susceptibility to NTDs in a Chinese Han population, and this association was affected by NTD phenotypes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Anencephaly / diagnostic imaging
  • Anencephaly / embryology
  • Anencephaly / genetics
  • Anencephaly / metabolism
  • Case-Control Studies
  • Cell Cycle Proteins / genetics*
  • Cell Cycle Proteins / metabolism
  • China
  • Female
  • Genetic Association Studies
  • Humans
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Neural Tube Defects / diagnostic imaging
  • Neural Tube Defects / embryology
  • Neural Tube Defects / genetics*
  • Neural Tube Defects / metabolism
  • Polymorphism, Single Nucleotide*
  • Pregnancy
  • Spinal Cord / embryology
  • Spinal Cord / metabolism
  • Ultrasonography, Prenatal

Substances

  • Adaptor Proteins, Signal Transducing
  • Cell Cycle Proteins
  • Membrane Proteins
  • PARD3 protein, human