Osteoporosis and its Association with Vitamin D Receptor, Oestrogen α Receptor, Parathyroid Receptor and Collagen Type I alpha Receptor Gene Polymorphisms with Bone Mineral Density: A Pilot Study from South Indian Postmenopausal Women of Tamil Nadu

Fernandez, Chrisanne; Tennyson, Jebasingh; S, Priscilla A

doi:10.1007/s10528-022-10197-5

Cited by 9 publications

(6 citation statements)

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“…Ряд исследований доказал влияние гена рецептора витамина D VDR BsmI 283 G>A на МПКТ и переломы [7,8]. При носительстве генотипа GG полиморфизма VDR BsmI 283 G>A (rs1544410) наблюдается увеличение риска перелома лучевой кости в типичном месте более чем в 3 раза, а так же снижение МПКТ [11]. В другом исследовании также было выявлено, что у женщин с генотипом bb (GG) полиморфизма VDR/BsmI риск развития переломов позвоночника в 2,48 раза выше по сравнению с генотипом Bb (GA) (p = 0,005) [9].…”

Section: рис 5 суточное потребление кальция с продуктами питанияunclassified

“…Носительство генотипа гетерозиготного GA гена VDR -Bsm1 c.IVS7 G>A в 2,4 раза усиливает риск развития ОП у русских женщин (OR=2,4 [95%CI:(1,84)], р=0,03) (таблица 2), в то время как у бурят частота развития заболевания в 5,45 раза увеличивается в случае присутствия гомозиготного генотипа АА (OR=5,45 [95%CI:(1,91)], р=0,03) (таблица 3). Также риск развития остеопороза существенно повышается у русских женщин носителей генотипа ТТ гена лактазы LCT -13910 С>Т (OR=5,25 [95%CI:(1,(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)25)], р=0,02) (таблица 2).…”

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Prognostic Factors for the Development of Osteoporotic Fractures in Women of Different Ethnic Groups Over 50 Years Old Residing in the Transbaikal Region

Verkhoturova,

Gorbunov,

Tsarenok

et al. 2024

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The aim of the research. To study prognostically unfavorable risk factors of the occurrence osteoporotic fractures in women over 50 years old in Trans-Baikal Region.Materials and methods. 121 women with OP (67 Russian and 54 Buryat nationalities, average age 63.5 years) and 145 healthy women of the same age were examined. The genetic polymorphisms VDR, LCT and COL1A1 were studied by PCR. The concentrations of bone tissue metabolism markers in the blood serum of 80 women were studied.Results. Homozygous TT of LCT 13910 C>T and recessive allele A VDR - Bsm1 c.IVS7 G>A were associated with increased risk of osteoporosis in women over 50 years of age living in the Trans-Baikal Territory. Heterozygous GА of VDR Bsm1 c.IVS7G>A, homozygous TT of LCT 13910 C>T were associated with increased risk of osteoporosis in Russian women. Homozygous АА of VDR Bsm1 c.IVS7G>A were associated with osteoporosis risk in Buryat women. The content of pyridinoline is increased in the blood serum of Russian women compared to Buryats. Independent predictors of the development of fractures were established: the TT genotype of the LCT and a high concentration of the ß-CrossLaps in Russian women, an increase in the level of pyridinoline and ß-CrossLaps in the blood serum of Buryats.Conclusion. The study of genetic polymorphism of bone tissue metabolite genes and markers of bone resorption in blood serum can be used as an early preclinical diagnosis of low-energy fractures in women over 50 years old living in the Trans-Baikal region.

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Section: рис 5 суточное потребление кальция с продуктами питанияunclassified

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Prognostic Factors for the Development of Osteoporotic Fractures in Women of Different Ethnic Groups Over 50 Years Old Residing in the Transbaikal Region

Verkhoturova,

Gorbunov,

Tsarenok

et al. 2024

jour

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“…Serum was separated from clotted blood by centrifugation and then stored at − 80˚ C until assayed. Serum concentrations of intact OC were measured in duplicate with enzyme-linked immunosorbent assay (ELISA) using the Human osteocalcin / Bone gla protein (OT/BGP) ELISA kit (Bioassay Technology Laboratory, China), in a micro titer strip well format using monoclonal antibody directed against distinct epitopes of human osteocalcin, as previously described [9].…”

Section: Estimation Of Serum Osteocalcinmentioning

confidence: 99%

“…DNA was isolated for PCR ampli cation from the whole blood samples by non-enzymatic salting-out method [8] .The following polymorphisms of rs7975232, rs731236, rs1544410, rs2234693, rs9340799, rs6254 and rs1800012 was genotyped for all the subjects using PCR-restriction fragment length polymorphism (RFLP), as previously described by us in our earlier work [9].…”

Section: Snp Genotypingmentioning

confidence: 99%

Genetic variants of vitamin D, estrogen α, parathyroid and collagen type I alpha receptor gene and its influence on circulating serum osteocalcin in postmenopausal osteoporosis: A cohort study

Freeman,

Tennyson,

Priscilla

2024

Nucleus

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Introduction: Osteocalcin is an abundant, highly conserved bone speci c protein and the serum levels of OC have been used as a biochemical marker of bone turnover. The genetic variation of certain candidate genes impacts osteocalcin levels in the postmenopausal period and may predispose some women to high bone turnover. To identify the genes in uencing variation in serum OC levels, we investigated the polymorphisms of Vitamin D, Estrogen α, Parathyroid and Collagen Type I alpha Receptor genes and its association with bone turnover evaluated by serum osteocalcin in postmenopausal women from south India.Materials and Methods: The polymerase chain reaction-restriction fragment length polymorphism strategy was used to detect the polymorphisms at all the four gene receptors (i.e., for VDR, ERα, PTH and COLIA1) in 300 postmenopausal women from South India. Serum osteocalcin levels were measured by immunoassay (ELISA).Results: The serum osteocalcin levels for the Apa I polymorphisms showed varied results, in which, subjects in the control group with "GG" genotype and the osteopenic group with "TT" genotype of the ApaI polymorphism had a signi cantly higher serum osteocalcin concentration (p<0.05). The PTH-AA group in controls had a signi cantly higher level of serum osteocalcin, this suggests a higher state of bone turnover in the AA genotype. Conclusion:The outcome of this study proposes the probability of a small impact of the VDR-ApaI (GG) genotype, the VDR-TaqI (TT) genotype and the (AA) genotype of the PTH-BstBI polymorphism indicating a higher rate of bone turnover in the healthy postmenopausal women.

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“…Polymorphisms of a number of genes including receptors, e.g. VDR, ESR1, PTHR1, LRP5, and TNFRSF11B (known as OPG) have been described as associated with an increased incidence of fractures and a reduced BMD (1). Therefore, there can be as many candidates for pharmacogenes of osteoporosis as in the case of the polygenic basis of the disease itself.…”

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Does the VDR gene polymorphism influence the efficacy of denosumab therapy in postmenopausal osteoporosis?

Wawrzyniak

Skrzypczak-Zielińska²,

Michalak³

et al. 2023

Front. Endocrinol.

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IntroductionOne of the challenges of personalized medicine is a departure from traditional pharmacology toward individualized, genotype-based therapies. Postmenopausal osteoporosis is a prevalent condition requiring intensive treatment, whose effects are measurable only after a long time, and the goal is bone fracture prevention. This study aimed to determine the influence of VDR gene variation on anti-osteoporotic one-year treatment with denosumab in 63 Polish women with postmenopausal osteoporosis.Materials and methodsThe correlation between bone mineral density (BMD) of the lumbar vertebral column (L1–L4) and femoral neck, and genotype distributions for the ApaI, BsmI, FokI, and TaqI variants of the VDR gene was analyzed. Bone fractures during denosumab therapy were also investigated.ResultsIn the case of the Bsml polymorphism, female patients with BB and Bb genotypes had statistically significantly higher values of BMD and T-score/Z-score indicators, which persisted after a year of denosumab treatment. Our results indicated that the Bsml polymorphism contributes to better bone status, and, consequently, to more efficient biological therapy. The study did not reveal significant differences between changes (delta) in BMD and genotypes for the analyzed VDR gene loci. In the entire study group, one bone fracture was observed in one patient throughout the yearlong period of denosumab therapy.ConclusionsBB and Bb genotypes of the Bsml polymorphism of the VDR gene determine higher DXA parameter values both before and after one-year denosumab therapy in postmenopausal women with osteoporosis.

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Osteoporosis and its Association with Vitamin D Receptor, Oestrogen α Receptor, Parathyroid Receptor and Collagen Type I alpha Receptor Gene Polymorphisms with Bone Mineral Density: A Pilot Study from South Indian Postmenopausal Women of Tamil Nadu

Cited by 9 publications

References 53 publications

Prognostic Factors for the Development of Osteoporotic Fractures in Women of Different Ethnic Groups Over 50 Years Old Residing in the Transbaikal Region

Prognostic Factors for the Development of Osteoporotic Fractures in Women of Different Ethnic Groups Over 50 Years Old Residing in the Transbaikal Region

Genetic variants of vitamin D, estrogen α, parathyroid and collagen type I alpha receptor gene and its influence on circulating serum osteocalcin in postmenopausal osteoporosis: A cohort study

Does the VDR gene polymorphism influence the efficacy of denosumab therapy in postmenopausal osteoporosis?

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