Role of R990G polymorphism of calcium-sensing receptor gene in regulation of parathyroid hormone level in children with chronic kidney disease stage II–V


M.S. Molchanova, E.E. Tikhomirov, L.P. Bykova, E.A. Molchanova, A.L. Rumiantsev, A.L. Valov, D.B. Ektov, V.A. Gavrilova, Yu.B. Yurasova, E.K. Petrosian

1 Pirogov Russian National Research Medical University Ministry of Health and Social Development of Russian Federation, Moscow
Aim. Determination of frequency of A986S, R990G and Q1011E polymorphisms of calcium-sensing receptor gene in children with chronic kidney disease (CKD) stage II – V and assessment of influence of these polymorphisms on parathyroid hormone (PTH) level.
Methods. 80 children (44 boys and 36 girls, age 11,5±4,2 (1,6-17,3) years) with CKD stage II – V were included into the study. 40 subjects (14 male, 36 female, age 32,9±11,5 (22-45) years) without CKD served as controls. Presence of A986S, R990G и Q1011E polymorphisms of calcium-sensing receptor gene was assessed. PTH level was determined in all patients: in 70 children (PTH>72 pg/ml) secondary hyperparathyroidism was diagnosed, 10 children has hypoparathyroidism (PTH<62 pg/ml).
Results. Frequency of calcium-sensing receptor gene alleles did not differ significantly between groups of children with hyperparathyroidism, hypoparathyroidism and healthy controls. In children with hypoparathyroidism frequency of G allele and RG990 genotype increased in comparison with control group and children with hypertparahyroidism. G allele frequency was 25% in hypoparathyroidism group, 6,2% in control group (χ2=6,25, р=0,01) and 9,3% in hyperparathyroidism group (χ2=4,33, р=0,04). RG genotype was found in 50% of children with hypoparathyroidism, 12,5% in control group (χ2=7,03, р=0,008) and 18,6% in hyperparathyroidism group (χ2=4,96, р=0,03).
Conclusion. Presence of G990 allele of calcium-sensing receptor gene in children with CKD is associated with lower PTH level and susceptibility to hypoparathyroidism.

About the Autors


Molcahova M.S. – hospital pediatric department assistant at Pirogov Russian National Research Medical University Ministry of Health and Social Development of Russian Federation, Moscow
E-mail: maria_molchanova@yahoo.com;
Tikhomirov E.E. head research associate at State Institution “Scientific-Research Institution of Virusology n.a. D.I. Ivanovsky” Ministry of Health and Social Development of Russian Federation, Ph.D.;
Bykova L. P. – Clinical immunology laboratory physician at Federal State Institution “ Russian Pediatric clinical hospital” Ministry of Health and Social Development of Russian Federation, Ph.D.;
Molchanova E.A. – nephrologist at kidney transplantation department of Federal State Institution “ Russian Pediatric clinical hospital” Ministry of Health and Social Development of Russian Federation, Ph.D.;
Rumyantsev A.L. – nephrologist nephrologist at kidney transplantation department of Federal State Institution “ Russian Pediatric clinical hospital” Ministry of Health and Social Development of Russian Federation, Ph.D.;
Valov A. L. – head of kidney transplantation department of Federal State Institution “ Russian Pediatric clinical hospital” Ministry of Health and Social Development of Russian Federation, Ph.D.;
Ektov D.B. – surgeon at kidney transplantation department of Federal State Institution “ Russian Pediatric clinical hospital” Ministry of Health and Social Development of Russian Federation;
Gavrilova V.A. - nephrologist at nephrology department of Federal State Institution “ Russian Pediatric clinical hospital” Ministry of Health and Social Development of Russian Federation, Ph.D.;
Yurasova Yu.B. – head of nephrology department of Federal State Institution “ Russian Pediatric clinical hospital” Ministry of Health and Social Development of Russian Federation, Ph.D.;
Petrosyan E.K. – hospital pediatric department professor at Pirogov Russian National Research Medical University Ministry of Health and Social Development of Russian Federation, Moscow


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