Frequency of vitamin D receptor polymorphisms in parents of children with oral clefts.

IRAZOQUI AP; SANTOS MR; ORIOLI I; LÓPEZ-CAMELO JS; BAILLIET G

Buenos Aires

Encuentro; Clearinghouse 37th Annual Meeting / ECLAMC 42a Reunión Anual; 2010

Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC)I

Vitamin D levels depend on a complex regulatory system that involves exposure to sunlight, diet, and inherited genetic factors. Vitamin D is incorporated irregularly from skin synthesis or diet, which can lead to chronic deficiency (Gordon et al., 2004). There is evidence of variations in vitamin D levels in human populations of different ethnic origin. Moreover, variability in vitamin D plasma levels depends on inheritable genetic factors. Vitamin D plays a central role in bone and mineral metabolism; it is recognized as growth and differentiation regulator in many target tissues, and immune system modulator. The aim of this study was to characterize the distribution of two vitamin D receptor (VDR) polymorphisms (VDRTaqI and VDRBsmI) in Argentina. Forty seven samples of VDRTaqI and 158 samples of VDRBsmI from parents of children with oral cleft in maternities from North West, Metropolitan, and Pampa Regions were analyzed by PCR-RFLP. T and t (VDRTaqI) and B and b (VDRBsmI) alleles frequencies were 0.28, 0.72 , 0.71, and 0.29 respectively. We found neither HW disequilibrium nor differences among allele frequencies in the whole sample. The coefficient of differentiation among populations (FST) was lower than 1% for both polymorphisms.