Evaluation of fetal and maternal genetic effects on the risk of isolated orofacial clefts

摘要

There is compelling evidence for a strong genetic component to clefting in humans. Whether through variant growth patterns or through variant metabolic pathways, genetically susceptible subgroups offer a rich opportunity for research. When a condition has its onset prior to birth, there can also be maternally-mediated genetic effects due to the fact that the mother's own genotype influences the prenatal environment. For example, allelic variants of essential developmental genes in the mother and/or the fetus may alter fetal growth in ways that predispose the fetus to clefting. Such maternally-mediated effects can markedly confound a case-control comparison of babies with and without a birth defect, because of the correlation between the genotype of the baby and that of the mother.