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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1-3
Number of pages3
JournalJournal of Maternal-Fetal and Neonatal Medicine
VolumeDec 7:1-3. [Epub ahead of print]
DOIs
Publication statusAccepted/In press - Dec 6 2016

Fingerprint

Down Syndrome
Neoplasms
Proteins
Chromosomal Instability
Aneuploidy
Intellectual Disability
Case-Control Studies
Down-Regulation
Nucleotides
Technology

Keywords

  • Down Syndrome
  • Mothers of Down Syndrome
  • pyrosequencing
  • TP53 c.215G > C polymorphism
  • Trisomy 21

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynaecology

Cite this

@article{e17c711d8f884b22aa0cf312fd7e8773,
title = "A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers",
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, pyrosequencing, TP53 c.215G > C polymorphism, Trisomy 21",
author = "Michele Salemi and Concetta Barone and Salluzzo, {Maria Grazia} and Giambirtone, {Maria Concetta} and Francesco Scillato and {Galati Rando}, Rosanna and Carmelo Romano and Morale, {Maria Concetta} and Federico Ridolfo and Corrado Romano",
year = "2016",
month = "12",
day = "6",
doi = "10.1080/14767058.2016.1262343",
language = "English",
volume = "Dec 7:1-3. [Epub ahead of print]",
pages = "1--3",
journal = "Journal of Maternal-Fetal and Neonatal Medicine",
issn = "1476-7058",
publisher = "Informa Healthcare",

}

TY - JOUR

T1 - A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers

AU - Salemi, Michele

AU - Barone, Concetta

AU - Salluzzo, Maria Grazia

AU - Giambirtone, Maria Concetta

AU - Scillato, Francesco

AU - Galati Rando, Rosanna

AU - Romano, Carmelo

AU - Morale, Maria Concetta

AU - Ridolfo, Federico

AU - Romano, Corrado

PY - 2016/12/6

Y1 - 2016/12/6

N2 - 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.

AB - 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.

KW - Down Syndrome

KW - Mothers of Down Syndrome

KW - pyrosequencing

KW - TP53 c.215G > C polymorphism

KW - Trisomy 21

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U2 - 10.1080/14767058.2016.1262343

DO - 10.1080/14767058.2016.1262343

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VL - Dec 7:1-3. [Epub ahead of print]

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