RESUMEN
<p><b>OBJECTIVE</b>To investigate the association of vitamin D receptor (VDR) gene polymorphisms with urolithiasis in Uyghur children from southern Xinjiang, China, and to clarify the molecular genetic mechanism for the disease.</p><p><b>METHODS</b>Seventy-four Uygur children with urolithiasis (case group) and 103 healthy Uyghur children (control group) were enrolled as subjects. Polymerase chain reaction-restriction fragment length polymorphism was used to analyze the association of VDR gene FokI and ApaI polymorphisms with urolithiasis in Uyghur children from southern Xinjiang.</p><p><b>RESULTS</b>There were significant differences in FokI genotypes (FF, Ff and ff) between the case and control groups (χ2=7.818, P<0.05). The genotype Ff accounted for 58% of all genotypes in the case group, and Ff was significantly more prevalent in the case group than in the control group (P<0.05). There were no significant differences in ApaI genotypes (AA, Aa, and aa) between the case and control groups.</p><p><b>CONCLUSIONS</b>The polymorphisms of VDR gene FokI may be a suitable genetic marker for urolithiasis in Uyghur children.</p>