Abstract | INTRODUCTION: 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.
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Authors | Nasser Shakhssalim, Abbas Basiri, Massoud Houshmand, Hamid Pakmanesh, Banafsheh Golestan, Mohaddeseh Azadvari, Hajar Aryan, Amir H Kashi |
Journal | Urologia internationalis
(Urol Int)
Vol. 92
Issue 3
Pg. 356-62
( 2014)
ISSN: 1423-0399 [Electronic] Switzerland |
PMID | 24296906
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | 2013 S. Karger AG, Basel. |
Chemical References |
- 3' Untranslated Regions
- Receptors, Calcitonin
- Calcium
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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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