OBJECTIVETo 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.

METHODSSeventy-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.

RESULTSThere 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.

CONCLUSIONSThe polymorphisms of VDR gene FokI may be a suitable genetic marker for urolithiasis in Uyghur children.

Child, Preschool ; China ; Female ; Genotype ; Humans ; Infant ; Male ; Polymorphism, Genetic ; Receptors, Calcitriol ; genetics ; Urolithiasis ; genetics