Association of vitamin D receptor gene polymorphism with a bone mineral density level in postmenopausal women

Руденко, Э. В.; Самоховец, О. Ю.; Кобец, Е. В.; Морозик, П. М.

doi:10.29235/1814-6023-2019-16-2-192-201

Cited by 5 publications

(4 citation statements)

References 23 publications

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“…Information on VDR gene variants was obtained from the Entrez Gene database ( , accessed on 5 June 2020). Selected SNVs (ApaI rs7975232, BsmI rs1544410, TaqI rs731236, FokI rs2228570 and Cdx2 rs11568820) were determined using the quantitative polymerase chain reaction (PCR) with TaqMan Probes (Thermo Fisher Scientific, Waltham, MA, USA) in the CFX96™ Touch Real-Time PCR Detection Systems (Bio-Rad Laboratories, Hercules, NY, USA) as previously described [ 20 , 21 ]. The whole reacting volume in PCR tubes was 10 µL, including 5 µL iTaq™ Universal Probes Supermix (Bio-Rad Laboratories, Hercules, NY, USA), 3.75 µL of mQ water, 0.25 µL × 40 TaqMan™ SNP Genotyping Assay, and 1 µL of genomic DNA (15 ng).…”

Section: Methodsmentioning

confidence: 99%

Vitamin D Status, Bone Mineral Density, and VDR Gene Polymorphism in a Cohort of Belarusian Postmenopausal Women

et al. 2021

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Vitamin D plays an important role in bone metabolism and is important for the prevention of multifactorial pathologies, including osteoporosis (OP). The biological action of vitamin is realized through its receptor, which is coded by the VDR gene. VDR gene polymorphism can influence individual predisposition to OP and response to vitamin D supplementation. The aim of this work was to reveal the effects of VDR gene ApaI rs7975232, BsmI rs1544410, TaqI rs731236, FokI rs2228570, and Cdx2 rs11568820 variants on bone mineral density (BMD), 25-hydroxyvitamin D level, and OP risk in Belarusian women. Methods. The case group included 355 women with postmenopausal OP, and the control group comprised 247 women who met the inclusion criteria. TaqMan genotyping assay was used to determine VDR gene variants. Results. Rs7975232 A/A, rs1544410 T/T, and rs731236 G/G single variants and their A-T-G haplotype showed a significant association with increased OP risk (for A-T-G, OR = 1.8, p = 0.0001) and decreased BMD (A-T-G, −0.09 g/cm2, p = 0.0001). The rs11568820 A-allele showed a protective effect on BMD (+0.22 g/cm2, p = 0.027). A significant dose effect with 25(OH)D was found for rs1544410, rs731236, and rs11568820 genotypes. Rs731236 A/A was associated with the 25(OH)D deficiency state. Conclusion. Our novel data on the relationship between VDR gene variants and BMD, 25(OH)D level, and OP risk highlights the importance of genetic markers for personalized medicine strategy.

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Section: Methodsmentioning

confidence: 99%

Vitamin D Status, Bone Mineral Density, and VDR Gene Polymorphism in a Cohort of Belarusian Postmenopausal Women

et al. 2021

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“…Одними из таких независимых факторов являются полиморфизмы генов метаболизма костной ткани. Влияние гена рецептора витамина D VDR -Bsm1 c.IVS7 G>A на минеральную плотность костной ткани (МПКТ), развитие ОП и переломов широко изучается по всему миру [7,8]. Некоторые из исследований описали ассоциацию противоположных аллелей с переломами и МПКТ [7][8][9], другие научные работы не выявили какой-либо взаимосвязи между полиморфизмами VDR и наличием переломов и ОП [10].…”

Section: рис 5 суточное потребление кальция с продуктами питанияunclassified

“…Влияние гена рецептора витамина D VDR -Bsm1 c.IVS7 G>A на минеральную плотность костной ткани (МПКТ), развитие ОП и переломов широко изучается по всему миру [7,8]. Некоторые из исследований описали ассоциацию противоположных аллелей с переломами и МПКТ [7][8][9], другие научные работы не выявили какой-либо взаимосвязи между полиморфизмами VDR и наличием переломов и ОП [10]. Следует отметить, что среди доступных научных исследований мы не обнаружили ассоциаций тех же аллелей риска возникновения переломов, что и в нашей работе.…”

Section: рис 5 суточное потребление кальция с продуктами питанияunclassified

“…Следует отметить, что среди доступных научных исследований мы не обнаружили ассоциаций тех же аллелей риска возникновения переломов, что и в нашей работе. 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].…”

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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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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Musculoskeletal disorders and coronary artery disease —promising molecular markers: literature review

Karetnikova,

Neeshpapa,

Carpova

et al. 2024

CardioSomatics

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Currently, increasing evidence shows that people with cardiovascular diseases, including coronary heart disease, have a higher risk of developing pathologies such as sarcopenia, osteopenia, osteosarcopenia, sarcopenic, and osteosarcopenic obesity, which is associated with increased mortality risk. Musculoskeletal and adipose tissue changes have significantly affected the quality of life of patients and are important clinical problems. It is assumed that between the aforementioned disorders and coronary heart disease, a pathogenetic connection with the possibility of mutual aggravation exists. Accordingly, the search for relevant and accurate markers that reflect the severity and characterize the prognosis of a complex of pathological conditions is necessary given the increased proportion of patients in the general population with comorbidities. The article reviews the basic concepts of age-related disorders of body composition and molecular markers and emphasizes on new and potentially promising ones. The results can help in identifying and assessing the severity and prognosis of atherosclerosis, including coronary heart disease, and various disorders of musculoskeletal homeostasis, which reflects the commonality of their pathogenesis.

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Association of vitamin D receptor gene polymorphism with a bone mineral density level in postmenopausal women

Cited by 5 publications

References 23 publications

Vitamin D Status, Bone Mineral Density, and VDR Gene Polymorphism in a Cohort of Belarusian Postmenopausal Women

Vitamin D Status, Bone Mineral Density, and VDR Gene Polymorphism in a Cohort of Belarusian Postmenopausal Women

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

Musculoskeletal disorders and coronary artery disease —promising molecular markers: literature review

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