VDR, RANKL and OPG polymorphisms as possible predisposing cofactors of postmenopausal osteoporosis: explorative study in Italian population

Postmenopausal osteoporosis (PO) has a strong genetic component. Presently, the published evidence on the association between the main single-nucleotide polymorphisms (SNPs) of the receptor activator of nuclear factor-kb ligand (RANKL), osteoprotegerin (OPG) and vitamin D receptor (VDR) and bone mass density (BMD) are scarce, mostly considering Italian population. This study sought to determine whether OPG (rs2073618), RANKL (rs9525641) and the VDR (rs2228570) SNPs were associated with BMD in a sample of 139 North-Italian postmenopausal women. The allelic distribution of rs9525641 in women with PO or osteopenia (OP + OPE group) differed from controls (p < 0.05), suggesting that this allele might confer a greater susceptibility to bone resorption. Concerning rs2228570, CC genotype was associated with OP + OPE women, with a worst total hip BMD. Notably, the combined genotype RANK (CT)–VDR (TT) was significantly associated to spine BMD (p < 0.05). In conclusion, this pilot study showed that rs9525641 and rs2228570 polymorphisms might contribute, separately or in combination, in determining BMD phenotype in selected postmenopausal populations.



Titolo: VDR, RANKL and OPG polymorphisms as possible predisposing cofactors of postmenopausal osteoporosis: explorative study in Italian population
Autori: 
MAMOLINI, Elisabetta
CERVELLATI, Carlo
GRECO, Pantaleo
CARRIERI, Alberto
MASSARI, Leo
CRIVELLARI, Ilaria
SCAPOLI, Chiara
BONACCORSI, Gloria
Data di pubblicazione: 2017
Rivista: 
GYNECOLOGICAL ENDOCRINOLOGY  
Abstract: Postmenopausal osteoporosis (PO) has a strong genetic component. Presently, the published evidence on the association between the main single-nucleotide polymorphisms (SNPs) of the receptor activator of nuclear factor-kb ligand (RANKL), osteoprotegerin (OPG) and vitamin D receptor (VDR) and bone mass density (BMD) are scarce, mostly considering Italian population. This study sought to determine whether OPG (rs2073618), RANKL (rs9525641) and the VDR (rs2228570) SNPs were associated with BMD in a sample of 139 North-Italian postmenopausal women. The allelic distribution of rs9525641 in women with PO or osteopenia (OP + OPE group) differed from controls (p < 0.05), suggesting that this allele might confer a greater susceptibility to bone resorption. Concerning rs2228570, CC genotype was associated with OP + OPE women, with a worst total hip BMD. Notably, the combined genotype RANK (CT)–VDR (TT) was significantly associated to spine BMD (p < 0.05). In conclusion, this pilot study showed that rs9525641 and rs2228570 polymorphisms might contribute, separately or in combination, in determining BMD phenotype in selected postmenopausal populations.
Handle: http://hdl.handle.net/11392/2371223
Appare nelle tipologie:03.1 Articolo su rivista

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