title: Vitamin D receptor gene Alw I, Fok I, Apa I, and Taq I polymorphisms in patients with urinary stone.
abstract: OBJECTIVE
  To evaluate vitamin D receptor (VDR) gene polymorphisms in Korean patients so as to identify the candidate genes associated with urinary stones. Urinary stones are a multifactorial disease that includes various genetic factors.
  
  
  METHODS
  A normal control group of 535 healthy subjects and 278 patients with urinary stones was evaluated. Of 125 patients who presented stone samples, 102 had calcium stones on chemical analysis. The VDR gene Alw I, Fok I, Apa I, and Taq I polymorphisms were evaluated using the polymerase chain reaction-restriction fragment length polymorphism analysis. Allelic and genotypic frequencies were calculated to identify associations in both groups. The haplotype frequencies of the VDR gene polymorphisms for multiple loci were also determined.
  
  
  RESULTS
  For the VDR gene Alw I, Fok I, Apa I, and Taq I polymorphisms, there was no statistically significant difference between the patients with urinary stones and the healthy controls. There was also no statistically significant difference between the patients with calcium stones and the healthy controls. A novel haplotype (Ht 4; CTTT) was identified in 13.5% of the patients with urinary stones and in 8.3% of the controls (P = .001). The haplotype frequencies were significantly different between the patients with calcium stones and the controls (P = .004).
  
  
  CONCLUSIONS
  The VDR gene Alw I, Fok I, Apa I, and Taq I polymorphisms does not seem to be candidate genetic markers for urinary stones in Korean patients. However, 1 novel haplotype of the VDR gene polymorphisms for multiple loci might be a candidate genetic marker.
authors.affiliation: Department of Urology, Wonkwang University School of Medicine, Iksan, Jeonbuk, Korea. seraph@wonkwang.ac.kr
authors.forename: Ill Young
authors.initials: IY
authors.lastname: Seo
authors.forename: In-Hong
authors.initials: IH
authors.lastname: Kang
authors.forename: Soo-Cheon
authors.initials: SC
authors.lastname: Chae
authors.forename: Seung Chol
authors.initials: SC
authors.lastname: Park
authors.forename: Young-Jin
authors.initials: YJ
authors.lastname: Lee
authors.forename: Yun Sik
authors.initials: YS
authors.lastname: Yang
authors.forename: Soo Bang
authors.initials: SB
authors.lastname: Ryu
authors.forename: Joung Sik
authors.initials: JS
authors.lastname: Rim
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D056910:Republic of Korea; D014545:Urinary Calculi / Q000235:genetics*; D055815:Young Adult
chemical_list: D018167:Receptors, Calcitriol; C035042:endodeoxyribonuclease FokI; D015252:Deoxyribonucleases, Type II Site-Specific; C044346:GGATC-specific type II deoxyribonucleases; C038485:GGGCCC-specific type II deoxyribonucleases; C027046:TCGA-specific type II deoxyribonucleases