Association between promoter region genetic variants of PTH SNPs and serum 25(OH)-vitamin D level

Int J Clin Exp Pathol. 2015 Jul 1;8(7):8463-71. eCollection 2015.

Abstract

Parathyroid hormone (PTH) plays a crucial role in calcium metabolism and skeletal development via altering vitamin D level. Besides, hypersecretion of PTH is implicated in the etiology of osteoporosis. In this study, we analyzed association between promoter region sequence variants of PTH gene and circulating 25-hydroxy-vitamin D (25(OH)D) level. Genotypes of PTH SNPs rs1459015, rs10500783 and rs10500784 and circulating serum 25(OH)D level of healthy adults (N=386) of different nationalities living in Riyadh were determined and relation between the different PTH allelic variants and corresponding mean 25(OH)D values were obtained using Analysis of Variance (ANOVA) and Bonferroni post-hoc test for multiple comparisons. We observed a high prevalence of vitamin D deficiency (<50 nmol/l) among all nationals which ranged from 59% among Indians to 82% among Yemeni. Comparison of the means of 25(OH)D levels corresponding to different genotypes of PTH SNPs indicated that the T allele of SNP rs1459015 was associated with higher 25(OH)D level in the Sudanese (P=0.03), while the T allele of SNP rs10500783 was associated with higher 25(OH)D level in Saudis (P=0.03). Analysis of results also indicated that the Sudanese carriers of the CC genotype of SNP rs1459015 had a higher risk of suffering from vitamin D deficiency (P=0.02). In conclusion, our study indicated significant association between specific PTH gene promoter region variants and altered levels of 25(OH)D and vitamin D deficiency among specific nationals.

Keywords: 25(OH)D; Parathyroid hormone; osteoporosis; single nucleotide polymorphism; vitamin D.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cross-Sectional Studies
  • Ethnicity / genetics
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Parathyroid Hormone / genetics*
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Prevalence
  • Promoter Regions, Genetic*
  • Risk Factors
  • Saudi Arabia / epidemiology
  • Vitamin D / analogs & derivatives*
  • Vitamin D / blood
  • Vitamin D Deficiency / blood*
  • Vitamin D Deficiency / diagnosis
  • Vitamin D Deficiency / ethnology
  • Vitamin D Deficiency / genetics*
  • Young Adult

Substances

  • PTH protein, human
  • Parathyroid Hormone
  • Vitamin D
  • 25-hydroxyvitamin D