Allele polymorphism of alkaline, acid soluble phosphatase genes and vitamin D-binding protein in postmenopausal osteoporosis

Abstract

Aim. To study polymorphism of genes involved in mechanisms regulating metabolism of bone tissue: alkaline (ALPL) and acid (ACPI) phosphatases, vitamin D-bindingprotein (GC); to ascertain associations of their genotypes and alleles with osteoporosis (OP) and mineral density of spinal and femoral bone tissue (BTMD). Material and methods. Relevant genetic examination was made in 70 females with OP diagnosed by the WHO criteria (1994) aged 60-79years (mean age 71.0 ± 6.2years) and 51 ОP-free females in the same age interval (mean age 69.0 ± 5.6 years). Polymorphic sites of the genes were examined by polymerase chain reaction. Trinucleotide repeat, ARG105GLN polymorphism of restrictive fragment length (PRFL), [GC, TRH420LYS] PRFL were studied for ALPL gene, ACPI gene and GС gene, respectively. Results. Association was found between frequencies of genotypes SS, 2F and FS, F allele of GC gene with OP as well as between PRFL of the spine, femur and some GC genotypes in OP women. Genes ALPL and ACPI were not associated with OP. Conclusion. It is suggested that genotypes SS, 2F and FS have marked functional differences in fixation and transport of vitamin D active metabolites involved in metabolism of bone tissue in OP.

Keywords

• gc genotypes
• association
• osteoporosis
• mineral density of bone tissue
• genetic marker