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Authorde Azevêdo Silva, Jaqueline
Authorde Lima, Camilla Albertina Dantas
AuthorGuaraná, Werbson Lima
AuthorBarbosa, Alexandre Domingues
AuthorFragoso, Thiago Sotero
AuthorDuarte, Ângela Luzia Branco Pinto
AuthorCrovella, Sergio
AuthorSandrin-Garcia, Paula
Available date2023-02-07T07:16:55Z
Publication Date2023-02-01
Publication NameInternational Journal of Immunogenetics
Identifierhttp://dx.doi.org/10.1111/iji.12613
Citationde Azevêdo Silva, J., de Lima, C. A. D., Guaraná, W. L., Barbosa, A. D., Fragoso, T. S., Duarte, Â. L. B. P., Crovella, S., & Sandrin-Garcia, P. (2023). Vitamin D receptor gene polymorphisms influence on clinical profile and bone mineral density at different skeletal sites in postmenopausal osteoporotic women. International Journal of Immunogenetics, 00, 1– 7. https://doi.org/10.1111/iji.12613
ISSN1744-3121
URIhttp://hdl.handle.net/10576/39696
AbstractBone remodeling is marked by bone synthesis and absorption balance, and any altered dynamic in this process leads to osteoporosis (OP). The interaction of hormonal, environmental and genetic factors regulate bone metabolism. Since vitamin D displays a classic role in bone metabolism regulation, acting through vitamin D receptor (VDR), the genetic variants within VDR were the first ones associated with bone density and remodelling. Therefore, we investigated whether three single nucleotide polymorphisms (SNPs) within VDR were associated with OP differential susceptibility and clinical profile from postmenopausal versus healthy women from Northeast Brazil. Genetic association study enrolling 146 postmenopausal osteoporotic women as the patient group and 95 healthy age-matched women as the control group. We assessed three SNPs within VDR (rs11168268, rs1540339 and rs3890733), considering the clinical profile of all patients. Our results showed an association of rs11168268 G/G genotype with higher bone mineral density (BMD) mean for the total hip (A/A = 0.828 ± 0.09; A/G = 0.081 ± 0.13; G/G = 0.876 ± 0.12, p = .039), and the rs3890733 T/T genotype was associated with increased OP risk in patients below 60 years old (odds ratio [OR] = 5.12, 95% confidence interval [CI ]= 1.13-23.27, p = .012). The rs1540339 T/T genotype was associated with protection for individuals with low melanin deposition when compared to the high melanin deposition group (OR = 0.24, 95%CI = 0.06-0.94, p = .029). Additionally, 61% of patients presented deficient vitamin D serum levels. The SNP rs11168268 G/G was associated with a significantly increased mean total hip BMD in patients OP, highlighting this SNP and its relationship with BMD.
SponsorThis work was funded by the following Brazilian research agencies: CNPq (Conselho Nacional de Pesquisa), CAPES (Coordenação de Aperfeiçoamento de Pessoal de Nível Superior) and FACEPE (Fundação de Amparo à Ciência e Tecnologia do Estado de Pernambuco).
Languageen
PublisherWiley
SubjectSNP
VDR
osteoporosis
vitamin D
TitleVitamin D receptor gene polymorphisms influence on clinical profile and bone mineral density at different skeletal sites in postmenopausal osteoporotic women.
TypeArticle
ESSN1744-313X
dc.accessType Full Text


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