A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers

J Matern Fetal Neonatal Med. 2017 Nov;30(22):2752-2754. doi: 10.1080/14767058.2016.1262343. Epub 2016 Dec 7.

Abstract

Objective: Trisomy 21 is the most frequent genetic cause of intellectual disability. Tumor Protein 53 (TP53) gene down-regulation triggers chromosomal instability. A TP53 gene polymorphism c.215G > C (rs1042522) is associated with accumulation of aneuploid cells. We analyzed the TP53 c.215G > C (rs1042522) polymorphism in Sicilian mothers of subjects with Down Syndrome (DS) within a case-control study.

Methods: Nucleotide polymorphism was detected by pyrosequencing technology.

Results: The distribution of TP53 c.215G > C polymorphism showed significant difference between mothers of subjects with DS and controls.

Conclusions: Our data show that TP53 c.215G > C polymorphism is a risk factor for DS in Sicilian mothers.

Keywords: Down Syndrome; Mothers of Down Syndrome; TP53 c.215G > C polymorphism; Trisomy 21; pyrosequencing.

MeSH terms

  • Adult
  • Aged
  • Case-Control Studies
  • Down Syndrome / epidemiology
  • Down Syndrome / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Middle Aged
  • Mothers*
  • Polymorphism, Single Nucleotide*
  • Pregnancy
  • Risk Factors
  • Sicily / epidemiology
  • Tumor Suppressor Protein p53 / genetics*

Substances

  • TP53 protein, human
  • Tumor Suppressor Protein p53