Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina / Association between NAT2 polymorphisms with non-syndromic cleft lip with or without cleft palate in Argentina
Rev. méd. Chile
;
143(4): 444-450, abr. 2015. tab
Article
in Spanish
| LILACS
| ID: lil-747550
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 andMethods:
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.
Full text:
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Index:
LILACS (Americas)
Main subject:
Arylamine N-Acetyltransferase
/
Polymorphism, Restriction Fragment Length
/
Cleft Lip
/
Cleft Palate
Type of study:
Risk factors
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
South America
/
Argentina
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2015
Type:
Article
Affiliation country:
Argentina
Institution/Affiliation country:
Consejo Nacional de Investigaciones Científicas y Técnicas/AR
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