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.
authors.affiliation: a IRCCS Associazione Oasi Institute for Research on Mental Retardation and Brain Aging , Troina , Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Salemi
authors.affiliation: a IRCCS Associazione Oasi Institute for Research on Mental Retardation and Brain Aging , Troina , Italy.
authors.forename: Concetta
authors.initials: C
authors.lastname: Barone
authors.affiliation: a IRCCS Associazione Oasi Institute for Research on Mental Retardation and Brain Aging , Troina , Italy.
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Salluzzo
authors.affiliation: a IRCCS Associazione Oasi Institute for Research on Mental Retardation and Brain Aging , Troina , Italy.
authors.forename: Mariaconcetta
authors.initials: M
authors.lastname: Giambirtone
authors.affiliation: a IRCCS Associazione Oasi Institute for Research on Mental Retardation and Brain Aging , Troina , Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Scillato
authors.affiliation: a IRCCS Associazione Oasi Institute for Research on Mental Retardation and Brain Aging , Troina , Italy.
authors.forename: Rosanna
authors.initials: R
authors.lastname: Galati Rando
authors.affiliation: a IRCCS Associazione Oasi Institute for Research on Mental Retardation and Brain Aging , Troina , Italy.
authors.forename: Carmelo
authors.initials: C
authors.lastname: Romano
authors.affiliation: a IRCCS Associazione Oasi Institute for Research on Mental Retardation and Brain Aging , Troina , Italy.
authors.forename: Maria Concetta
authors.initials: MC
authors.lastname: Morale
authors.affiliation: b Post-Graduate School in Clinical Biochemistry , University of Milan , Milan , Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Ridolfo
authors.affiliation: a IRCCS Associazione Oasi Institute for Research on Mental Retardation and Brain Aging , Troina , Italy.
authors.forename: Corrado
authors.initials: C
authors.lastname: Romano
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D004314:Down Syndrome / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009035:Mothers; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D012307:Risk Factors; D012802:Sicily / Q000453:epidemiology; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53
keywords: Down Syndrome; Mothers of Down Syndrome; TP53 c.215G > C polymorphism; Trisomy 21; pyrosequencing