Supplementary Material for: Genetic Polymorphisms in Calcitonin Receptor Gene and Risk for Recurrent Kidney Calcium Stone Disease
datasetposted on 27.11.2013 by Shakhssalim N., Basiri A., Houshmand M., Pakmanesh H., Golestan B., Azadvari M., Aryan H., Kashi A.H.
Datasets usually provide raw data for analysis. This raw data often comes in spreadsheet form, but can be any collection of data, on which analysis can be performed.
Introduction: 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.