title: [Association between NAT2 polymorphisms with non-syndromic cleft lip with or without cleft palate in Argentina].
abstract: BACKGROUND
  NAT genes are considered candidate genes for the genetic predisposition to non-syndromic Cleft lip with or without cleft palate (NSCLP), since they codify for N-acetyltransferases, enzymes responsible for the biotransformation of arylamines, hydrazine drugs, and a great number of toxins and carcinogens present in diet, cigarette smoke, and environment.
  
  
  OBJECTIVE
  To determine the association between alleles determining slow acetylator phenotype and the risk of NSCLP.
  
  
  METHODS
  We analyzed *5 (481C>T), *6 (590G>A) and *7 (857G>A) alleles which determine the slow acetylator phenotype and *4 (wild type) allele by polymerase chain reaction/restriction fragment length polymorphism in 97 progenitor-case trios of NSCLP in Argentinian Obstetric Wards. We evaluated the transmission disequilibrium (TDT).
  
  
  RESULTS
  TDT showed a positive association between allele *5 and NSCLP (odds ratio = 1,6; p = 0,03).
  
  
  CONCLUSIONS
  The presence of *5 allele is significantly higher in cases with congenital NSCLP.
authors.forename: María Rita
authors.initials: MR
authors.lastname: Santos
authors.forename: Virginia
authors.initials: V
authors.lastname: Ramallo
authors.forename: Marina
authors.initials: M
authors.lastname: Muzzio
authors.forename: Jorge S López
authors.initials: JS
authors.lastname: Camelo
authors.forename: Graciela
authors.initials: G
authors.lastname: Bailliet
mesh_terms: D000483:Alleles; D054458:Amplified Fragment Length Polymorphism Analysis; D000704:Analysis of Variance; D001118:Argentina; D001191:Arylamine N-Acetyltransferase / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005220:Fathers; D005260:Female; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D009035:Mothers; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics*
chemical_list: D001191:Arylamine N-Acetyltransferase; C478900:NAT2 protein, human