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  1. Association study of transforming growth factor alpha (TGFalpha) TaqI polymorphism and oral clefts : indication of gene-environment interaction in a population-based sample of infants with birth defects.

    Article - En anglais

    In this study of infants with isolated birth defects, 69 cleft palate only cases, 114 cleft lip with or without cleft palate cases, and 284 controls with noncleft birth defects (all born in Maryland between 1984 and 1992) were examined to test for associations among maternal exposures, genetic markers, and oral clefts.

    A significantly higher frequency of positive family history of birth defects among both groups of oral cleft cases compared with controls was seen in these data.

    While there was a modest increase in the less common C2 allele at the TaqI site in the transforming growth factor alpha (TGFalpha) locus among cleft palate only infants compared with the birth defect controls, the association appeared to reflect an underlying interaction between maternal smoking and infant genotype.

    This apparent gene-environment interaction was also found among those reporting no family history of any birth defect.

    Infants carrying the rarer C2 allele who were exposed to maternal smoking of 10 or fewer cigarettes per day showed a 6.16-fold increase in risk for cleft palate only (95% confidence interval 1.09-34.7), while similar infants whose mothers smoked more than 10 cigarettes per day showed an 8.69-fold higher risk (95% confidence interval 1.57-47.8).

    However, the dose-response relation was not significant.

    Mots-clés Pascal : Bec de lièvre, Nourrisson, Homme, Génétique épidémiologique, Epidémiologie, Facteur croissance transformant alpha, Marqueur génétique, Maryland, Etats Unis, Amérique du Nord, Amérique, Registre, Malformation, ORL pathologie

    Mots-clés Pascal anglais : Cleft lip, Infant, Human, Epidemiologic genetics, Epidemiology, Transforming growth factor alpha, Genetic marker, Maryland, United States, North America, America, Register, Malformation, ENT disease

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 95-0253174

    Code Inist : 002B10C02. Création : 01/03/1996.