Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina

• María Rita Santos ^[1] ; Virginia Ramallo ^[1] ; Marina Muzzio ^[1] ; Jorge S López Camelo ^[1] ; Graciela Bailliet ^[1]
  1. [1] Consejo Nacional de Investigaciones Científicas y Técnicas Centro Científico Tecnológico La Plata Centro de Investigaciones Científicas-Provincia de Buenos Aires
• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 143, Nº. 4, 2015, págs. 444-450
• Idioma: español
• Títulos paralelos:
  • Association between NAT2 polymorphisms with non-syndromic cleft lip with or without cleft palate in Argentina
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• Resumen

  • 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. Aim: To determine the association between alleles determining slow acetylator phenotype and the risk of NSCLP. Material and 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.