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


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Abstract

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

References

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