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Genetic polymorphisms in calcitonin receptor gene and risk for recurrent kidney calcium stone disease.

AbstractINTRODUCTION:
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).
CONCLUSION:
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.
AuthorsNasser Shakhssalim, Abbas Basiri, Massoud Houshmand, Hamid Pakmanesh, Banafsheh Golestan, Mohaddeseh Azadvari, Hajar Aryan, Amir H Kashi
JournalUrologia internationalis (Urol Int) Vol. 92 Issue 3 Pg. 356-62 ( 2014) ISSN: 1423-0399 [Electronic] Switzerland
PMID24296906 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Copyright2013 S. Karger AG, Basel.
Chemical References
  • 3' Untranslated Regions
  • Receptors, Calcitonin
  • Calcium
Topics
  • 3' Untranslated Regions
  • Adult
  • Calcium (blood, metabolism, urine)
  • Case-Control Studies
  • Chi-Square Distribution
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Introns
  • Iran
  • Kidney Calculi (genetics, metabolism)
  • Male
  • Middle Aged
  • Odds Ratio
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Receptors, Calcitonin (genetics)
  • Recurrence
  • Risk Factors

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