Abstract
Vitamin D receptor gene polymorphisms have been intensively studied in relation with many diseases, including neurodegenerative disorders. We investigated the relationship between VDR polymorphisms and spinal muscular atrophy type I, a common lower motor neuron disease. Forty clinically and molecular diagnosed patients and 54 healthy subjects were analyzed PCR-RFLP method. We found an association trend (p=0.01) for the BsmI polymorphism taken individually and a significant association for two of four-locus inferred haplotypes (fBAt and fbaT). Also, baT, Bat and bAT were the most frequent estimated haplotypes in our control group, which is in accordance with previous published reports for Caucasian populations. We concluded that future studies performed in order to identify possible modifier genes for spinal muscular atrophy disease should take into consideration the involvement of vitamin D receptor gene polymorphisms
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