NAT2 and oral clefts: evaluation of genetic risk and relative importance of embryo and maternal genotypes

SANTOS MR; CAMPAÑA HE; JURADO MEDINA LS; SALA C; MUZZIO M; LÓPEZ CAMELO JS; BAILLIET G

Revista Argentina Antropología Biológica

Asociación Antropología Biológica Argentina

Lugar: La Plata; Año: 2019 vol. 21 p. 1 - 7

1514-7991

Non-syndromic Cleft lip with or without cleft palate (NSCLP) is a congenital malformation that shows the characteristics of a multifactorial pathology. In order to describe the genetic predisposition to this disorder, NAT genes were analyzed with special interest since they codify for N-acetyltransferases, the enzymes responsible for the biotransformation of arylamines, hydrazine drugs and a great number of toxins and carcinogens present in diet, cigarette smoke and the environment. The allelic transmission of NAT2 that determines the slow acetylator phenotype in 174 trios (case-mother/father) from ECLAMC (Latin American Collaborative Study of Congenital Malformations) maternities in Argentina was evaluated. The *4, *5B, *6, and *7 variants by PCR-RFLP were analyzed. A higher risk for the 5B*5B* genotypes of cases from Patagonia (OR=2. 24; p=0.050) was found, at the expense of the cases from Patagonia, without the influence of the maternal genotype.