title: Vitamin D receptor gene polymorphisms in patients with urolithiasis.
abstract: Urolithiasis is a multifactorial disease, the onset and severity of which is influenced by both genetic and environmental factors. This study represents an investigation of the role of vitamin D receptor (VDR) gene polymorphisms (ApaI, BsmI, and TaqI) and combined genotypes in urolithiasis in a Turkish population. We studied 110 patients with urinary stones and 150 control subjects. The polymorphic regions were amplified using polymerase chain reaction, followed by digestion with restriction enzymes BsmI, ApaI, and TaqI, and analyzed electrophoretically. Genotype and allele frequencies were calculated, and the association with urolithiasis, family history, and recurrence of stone was investigated. Our data provide no evidence for an association between urolithiasis and VDR ApaI, BsmI, and TaqI genotypes. We also analyzed the effects of VDR ApaI, BsmI, and TaqI genotypes in combination; the "GTT" VDR haplotype, constructed from three adjacent restriction fragment length polymorphisms was overrepresented among the urolithiasis patients. However, no significant differences between heterozygous carriers (OR 1.302; 95% CI 0.527-3.215) and homozygous carriers (OR 3.39; 95% CI 0.719-15.985) were observed in our study population. A significant association was found only between the ApaI polymorphism and family history (P=0.017; chi (2)=5.657). Our data indicate that the VDR ApaI, BsmI, and TaqI polymorphisms do not confer a significant risk for urolithiasis.
authors.affiliation: Department of Medical Biology and Genetics, School of Medicine, Ondokuzmayis University, Samsun, Turkey. sgunes@omu.edu.tr
authors.forename: Sezgin
authors.initials: S
authors.lastname: Gunes
authors.forename: Cenk Yucel
authors.initials: CY
authors.lastname: Bilen
authors.forename: Nurten
authors.initials: N
authors.lastname: Kara
authors.forename: Ramazan
authors.initials: R
authors.lastname: Asci
authors.forename: Hasan
authors.initials: H
authors.lastname: Bagci
authors.forename: Ali Faik
authors.initials: AF
authors.lastname: Yilmaz
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D012307:Risk Factors; D014421:Turkey / Q000453:epidemiology; D052878:Urolithiasis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol