ASSOCIATION BETWEEN NAT2 POLYMORPHISMS WITH NON-SYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE IN ARGENTINA
Asociación entre polimorfismos del gen NAT2 y Fisura labiopalatina no sindrómica en Argentina
Author
Santos, María Rita; Instituto de Biología Celular y Molecular (IMBICE)
Ramallo, Virginia; Instituto de Biología Celular y Molecular (IMBICE). CICPBA, CCT-CONICET-La Plata, La Plata, Argentina
Muzzio, Marina; Instituto de Biología Celular y Molecular (IMBICE). CICPBA, CCT-CONICET-La Plata, La Plata, Argentina
López Camelo, Jorge S.; Instituto de Biología Celular y Molecular (IMBICE). CICPBA, CCT-CONICET-La Plata, La Plata, Argentina
CEMIC, Buenos Aires, Argentina
Bailliet, Graciela; Instituto de Biología Celular y Molecular (IMBICE). CICPBA, CCT-CONICET-La Plata, La Plata, 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. 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. 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.
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