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

JURADO MEDINA L S; LOPEZ CAMELO J; CAMPAÑA H; MUZZIO M; SANTOS M R; SALA C; BAILLIET G

Revista Argentina de Antropología Biológica

Asociación Argentina de Antropología Biológica

Lugar: La Plata; Año: 2018

1514-7991

Por problemas de sistema no se pudo cargar la afiliación correcta de Campaña y López Camelo: Centro de Educación Médica e Investigación Clínicas ?Norberto Quirno? (CEMIC). CABA. ArgentinaNon-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.