Raloxifene administration in post-menopausal women with osteoporosis: effect of different BsmI vitamin D receptor genotypes

Palomba, Stefano; Numis, Fabio Giuliano; Mossetti, Giuseppe; Rendina, Domenico; Vuotto, Pietro; Russo, Tiziana; Zullo, Fulvio; Nappi, Carmine; Nunziata, V.

doi:10.1093/humrep/deg031

Cited by 49 publications

(29 citation statements)

References 41 publications

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“…Very few data [7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] are available to date on the pharmacogenetics of osteoporosis. Some major osteoporosis candidate genes, such as those encoding the vitamin D receptor (VDR), estrogen receptors alpha (ERa) and beta (ERb), and collagen I alpha 1 (COL1A1), have been investigated with regard to anti-resorptive drug (i.e., hormone replacement therapy, raloxifene, and bisphosphonates) responses.…”

Section: Major Recent Advancesmentioning

confidence: 99%

Pharmacogenetics of osteoporosis

Marini

Brandi

2014

Best Practice & Research Clinical Endocrinology & Metab

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Osteoporosis is a complex bone disorder with a strong genetic basis. The genetics of osteoporosis encompasses two main areas: genetics of disease susceptibility and pharmacogenetics of drug response. The former has been widely studied in the past few decades, while the latter is still largely untouched. This review will provide an overview of the pharmacogenetics of osteoporosis, focusing on the major recent advances in the past two years.

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Section: Major Recent Advancesmentioning

confidence: 99%

Pharmacogenetics of osteoporosis

Marini

Brandi

2014

Best Practice & Research Clinical Endocrinology & Metab

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“…Alcohol consumption was also expressed as a score ranging from 1 to 3 (score 1 for an alcohol consumption lower than 1000 mg/day, score 2 for an alcohol consumption from 1000 to 2000 mg/day, and score 3 for an alcohol consumption higher than 2000 mg/day). A semi-quantitative questionnaire was also used to evaluate daily physical activity according to the following scale: score 3 (high physical activity) was assigned to women who exercised regularly; score 2 (moderate physical activity) was assigned to women who did not exercise regularly but participated in daily activities, such as house cleaning, climbing stairs, or walking; score 1 (low physical activity) was assigned to women who did not participate in any of above-mentioned activities (19,20).…”

Section: Patientsmentioning

confidence: 99%

“…0 region at position K29 within the core promoter region of the FSHR gene, while the SNP rs6166 occurs at codon 680 and results in the amino acid substitution Ser680Asn. Calcium intake score, physical activity score, and alcohol consumption score were evaluated using specific questionnaires previously validated (19,20).…”

Section: Patientsmentioning

confidence: 99%

FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women

Rendina

Gianfrancesco

Filippo

et al. 2010

European Journal of Endocrinology

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Objective: FSH, via its receptor (FSHR), influences bone remodeling and osteoclast proliferation and activity. The aim of this study was to evaluate the influence of two single nucleotide polymorphisms (SNPs) of the FSHR gene on bone mineral density (BMD) and bone turnover markers (bone alkaline phosphatase and type I collagen C-telopeptides) in postmenopausal women. Methods: Two hundred and eighty-nine unrelated postmenopausal women were genotyped for the SNPs rs1394205 and rs6166. BMD was estimated using dual-energy X-ray absorptiometry and quantitative ultrasound (QUS) methodologies. Results: AA rs6166 women showed a lower BMD (femoral neck and total body), lower stiffness index (calcaneal QUS), and higher serum levels of bone turnover markers compared to GG rs6166 women. The prevalence of osteoporosis was significantly higher in AA rs6166 women compared with GG rs6166 women. These results were not influenced by circulating levels of FSH and estrogens. Conclusion: The SNP rs6166 of the FSHR gene significantly influences BMD in postmenopausal women. In particular, AA rs6166 women are at increased risk of postmenopausal osteoporosis compared with GG rs6166 women, independently of circulating levels of FSH and estrogens. Previous studies have demonstrated that this SNP influences cell and tissue response to hyperstimulation of FSHR in vivo and in vitro. Our study results appear in agreement with these experimental data and with known biological actions of FSH/FSHR system in bone homeostasis.

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“…VDR genetic variants have previously been associated with a number of diseases including pulmonary tuberculosis, diabetes, osteoporosis, asthma, ulcerative colitis, breast and female reproductive cancers, melanoma, systemic lupus erythematous and rheumatoid arthritis, Parkinson's disease, and coronary artery disease [30][31][32][33][34][35][36][37][38][39]. Pharmacogenetic studies have shown that VDR polymorphisms can modulate the response to a number of drugs including anti-tubercular and anti-psoriatic medications, anti-osteoporotic agents in postmenopausal women, interferon and ribavirin in patients with hepatitis C, vitamin D supplementation, and calcitriol [40][41][42][43][44][45][46], as well as with statin-induced myopathy [47]. Nevertheless, the potential association between the variations in the VDR and response to warfarin therapy has never before been reported.…”

Section: Discussionmentioning

confidence: 99%

Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort

et al. 2018

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Warfarin is primarily metabolized by cytochrome 2C9, encoded by gene CYP2C9. Here, we investigated whether variants in nuclear receptor genes which regulate the expression of CYP2C9 are associated with warfarin response. We used data from 906 warfarin users from the Quebec Warfarin Cohort (QWC) and tested the association of warfarin dose requirement at 3 months following the initiation of therapy in nine nuclear receptor genes: NR1I3, NR1I2, NR3C1, ESR1, GATA4, RXRA, VDR, CEBPA, and HNF4A. Three correlated SNPs in the VDR gene (rs4760658, rs11168292, and rs11168293) were associated with dose requirements of warfarin (P = 2.68 × 10 −5 , P = 5.81 × 10 −4 , and P = 5.94 × 10, respectively). Required doses of warfarin were the highest for homozygotes of the minor allele at the VDR variants (P < 0.0026). Variants in the VDR gene were associated with the variability in response to warfarin, emphasizing the possible clinical relevance of nuclear receptor gene variants on the inter-individual variability in drug metabolism.

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Raloxifene administration in post-menopausal women with osteoporosis: effect of different BsmI vitamin D receptor genotypes

Abstract: In post-menopausal women with osteoporosis the effectiveness of raloxifene treatment on bone metabolism seems to be controlled by different BsmI VDR genotypes.

Cited by 49 publications

References 41 publications

Pharmacogenetics of osteoporosis

Pharmacogenetics of osteoporosis

FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women

Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort

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