title: Genetic polymorphisms in calcitonin receptor gene and risk for recurrent kidney calcium stone disease.
abstract: BACKGROUND
  In this study the full sequence of the calcitonin receptor gene (CALCR) in a group of Iranian males suffering from recurrent calcium urinary stones was compared with that of a control group.
  
  
  METHODS
  Serum and urinary biochemistry related to urolithiasis were evaluated in 105 males diagnosed with recurrent kidney calcium stones and 101 age-matched healthy control males. The polymerase chain reaction single-strand conformation polymorphism method was used to detect new polymorphisms in the CALCR.
  
  
  RESULTS
  Nine polymorphisms were detected; seven were in the non-coding and two in the coding region. The T allele associated with the 3'UTR+18C>T polymorphism was observed exclusively in the stone formers. The exact odds ratio for the T allele in this locus for those at risk of stone formation was 36.72 (95% CI 4.95-272.0) (p < 0.001). The mean (standard deviation) urine calcium concentration was 117 (60) mg/l in patients with the C allele and 152 (72) mg/l in those with the T allele (p = 0.03). In addition, IVS1-6T>C and IVS1insA polymorphisms in intron 1 were associated with kidney stone disease (p < 0.001). Regarding single nucleotide polymorphism 447, mean (standard deviation) of serum calcitonin levels were 16.7 (18.7) pg/ml, 10.5 (11.0) pg/ml and 9.94 (9.7) pg/ml in subjects with TT, TC and CC genotypes, respectively (p = 0.01).
  
  
  CONCLUSIONS
  Our data indicate a potential association between 3'UTR+18C>T and intron 1 polymorphisms in the CALCR and the risk of kidney stone disease.
authors.affiliation: Urology and Nephrology Research Center, Shahid Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Nasser
authors.initials: N
authors.lastname: Shakhssalim
authors.forename: Abbas
authors.initials: A
authors.lastname: Basiri
authors.forename: Massoud
authors.initials: M
authors.lastname: Houshmand
authors.forename: Hamid
authors.initials: H
authors.lastname: Pakmanesh
authors.forename: Banafsheh
authors.initials: B
authors.lastname: Golestan
authors.forename: Mohaddeseh
authors.initials: M
authors.lastname: Azadvari
authors.forename: Hajar
authors.initials: H
authors.lastname: Aryan
authors.forename: Amir H
authors.initials: AH
authors.lastname: Kashi
mesh_terms: D020413:3' Untranslated Regions; D000328:Adult; D002118:Calcium / Q000097:blood / Q000378:metabolism* / Q000652:urine; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns; D007492:Iran; D007669:Kidney Calculi / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D018003:Receptors, Calcitonin / Q000235:genetics*; D012008:Recurrence; D012307:Risk Factors
chemical_list: D020413:3' Untranslated Regions; D018003:Receptors, Calcitonin; D002118:Calcium