Relationship between BsmI polymorphism and VDR gene methylation profile, gender, metabolic profile, oxidative stress, and inflammation in adolescents

Lucena, Lavoisiana Lacerda de; Silva, Alexandre; Nascimento, Rayner Anderson Ferreira do; Persuhn, Darlene Camati; Neves, Juliana Padilha Ramos; Costa, Maria J.; Queiroz, Dayana Joyce Marques; Lima, Rafaela Lira Formiga Covalcanti de; Lima, Renally Bezerra Wanderley e; Paiva, Maria Paula de; Oliveira, Naila Francis Paulo de; Gonçalves, Maria da Conceição Rodrigues

doi:10.20960/nh.03383

Cited by 4 publications

(4 citation statements)

References 45 publications

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“…As with the TaqI polymorphism, the methylation profile of the VDR gene was not associated with oral mucositis in this study, and the partially methylated profile in the promoter region of the VDR gene was found in all individuals (Table 4). Recently, a study addressing the methylation profile in the promoter region of the VDR gene in adolescents without cancer in the same city where the present study was conducted also found partial methylation, in which the mean ranged from 26% (±12.4%) to 30% (±14.2%) in blood cells (Lacerda de Lucena et al, 2021). In our study, although it did not take a quantitative approach, the analysis of the electrophoresis gels suggests partial methylation of around 50% in oral cells, since the bands of the methylated and unmethylated conditions seem equivalent (Figure 2).…”

Section: Discussionsupporting

confidence: 53%

Polymorphism but not methylation status in the vitamin D receptor gene contributes to oral mucositis in children

et al. 2022

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ObjectiveTo investigate the relationship between the polymorphisms rs1544410 (BsmI), rs2228570 (FokI) and rs731236 (TaqI) and DNA methylation status in the VDR gene (vitamin D receptor) with oral mucositis (OM) in oncopaediatric patients treated with methotrexate (MTX®).MethodsThe population comprised healthy patients with haematological malignancies aged between 5 and 19 years. An evaluation of oral conditions was performed using the Oral Assessment Guide. Demographic, clinical, biochemical and haematological data were obtained from medical records. Genomic DNA from oral mucosal cells was used for the analysis of polymorphisms (n = 102) (PCR‐restriction fragment length polymorphism) and DNA methylation (n = 81) (methylation‐specific PCR).ResultsMales predominated (57.8%), and the mean age was 10.3 years (±4.7). OM affected 84.3% of patients, of which 53.1% developed severe oral mucositis (SOM). Patients with OM had lower platelet and leukocyte counts (p < 0.05). The G allele of rs1544410 (p = 0.040) and the CT genotype of rs2228570 polymorphisms were associated with SOM (p = 0.038). A partially methylated status in the VDR promoter was found in all patients.ConclusionOM is associated with lower leukocyte and platelet counts. SOM is associated with the rs1544410 and rs2228570 polymorphisms. The methylation status of the VDR is not associated with inflammation or exposure to MTX®.

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Section: Discussionsupporting

confidence: 53%

Polymorphism but not methylation status in the vitamin D receptor gene contributes to oral mucositis in children

et al. 2022

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“…Notwithstanding, other groups have reported low PTH levels in patients carrying the BB genotype. (24,25) The bb genotype has been found to be associated with a higher frequency of diabetes and inflammation (26,27). For this reason, bb associated with inflammation and diabetes were analyzed.…”

Section: Discussionmentioning

confidence: 99%

Interaction of Vitamin D Receptor Polymorphism With Inflammation and Calcification Markers, Effect on All-Cause Mortality in Women on Dialysis

Avila,

Prado-Uribe,

Mora

et al. 2023

Preprint

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Polymorphism of vitamin D3 receptor (VDR), has been associated with low bone mineral density and other immune and metabolic disorders; however, its impact on mortality of female dialysis patients is not well studied. This study aimed to identify bone mass-related factors, VDR gene polymorphism, and their interaction with morbid conditions that could influence all-cause mortality. In 246 female dialysis patients, age 43±11 years on continuous ambulatory dialysis peritoneal; 48%, haemodialysis; 23% and automated peritoneal dialysis; 29%. Tscore, Ca, PO4, albumin, hs-CRP, osteoprotegerin, fetuin, osteocalcin, iPTH, PINP and β-CTx were measured. PCR products were digested with Bsml to analyze VDR polymorphisms. Patients n=229; were followed for a median of 17 (15-31) months; 42 patients died. Bsml polymorphism, bb=64% and BB+Bb=36%. Hs-CRP was the risk of death in multivariate Cox Analysis. Patients with bb and inflammation had a higher risk of death (HR 2.48, 95% CI 1.08-5.68) persisted after adjustment for age, diabetes and iPTH (HR 2.33; 95% CI, 1.01-8.33) and after further adjustment for vintage, albumin, osteoprotegerin and vitamin D therapy (HR 3.49; 95% CI, 1.20-10.9). We may conclude that the presences of the bb genotype of VDR and inflammation have additive effects on all cause-mortality in females in CAPD, APD, and HD patients.

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“…Представленные данные получены впервые. В предшествующих работах были предприняты попытки исследовать полиморфизм гена у взрослых с атопическим дерматитом [14], при этом была установлена большая частота встречаемости аллеля G в сайте BsmI гена VDR rs1544410), аллеля С в сайте ApaI (rs7975232) и аллеля T в Анализируя данные содержания 25-OH витамина D, обращает на себя внимание статистически значимое снижение его (Р=0,02) концентрации у детей при гетерозиготном варианте A/G и гомозиготном варианте G/G Fok1 гена VDR (табл. 2).…”

Section:  результаты и обсуждениеunclassified

Distribution of Alleles and Genotypes of VDR Gene in Children with Allergic Diseases

Сенцова¹,

Ильенко²

2023

Педиатрия. Восточная Европа

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Цель. Изучить частоту встречаемости полиморфизма гена рецептора витамина D (VDR) у детей с аллергическими заболеваниями. Материалы и методы. В исследование включено 130 детей (66 мальчиков и 64 девочки) с аллергическими заболеваниями в возрасте от 1,5 года до 16 лет. Всем детям проводили общеклинические и аллергологические исследования. У 93 детей (71,5%) диагностировалась изолированная аллергопатология, в основном пищевая аллергия и атопический дерматит, у 37 детей (28,4%) – сочетанная (бронхиальная астма, крапивница, аллергический ринит и др.). Группу контроля составил 41 практически здоровый ребенок в возрасте от 1 года до 10 лет. Для выделения ДНК использовали набор «Проба-Рапид-Генетика» фирмы «ДНК-Технология» (Россия). Анализ полиморфных маркеров FokI (rs2228570), BsmI (rs 1544410) и TaqI (rs 731236) гена VDR проводили методом полимеразной цепной реакции в режиме реального времени при использовании детектирующего амплификатора ДТ-96 и с помощью наборов для ДНК-диагностики фирмы «ДНК-технология» (Россия). Исследование метаболита 25-OH (25-гидроксивитамин D2 и D3) витамина D осуществляли иммуноферментным методом. Результаты. У детей выявлены достоверно повышенная частота встречаемости аллеля А в сайте BsmI гена VDR (OR=1,81, Р=0,04) и носительство гомозиготного А/А, гетерозиготного G/А его генотипа (OR=2,03, Р=0,05 и OR=1,8, P=0,05 соответственно), что дает возможность рассматривать его в качестве прогностического маркера, ассоциированного с риском развития аллергического заболевания. Установлено статистически значимое снижение концентрации 25-ОН витамина D (Р=0,02) у детей при гетерозиготном варианте A/G и гомозиготном варианте G/G Fok1 гена VDR. Заключение. Выявлены достоверные различия распределения частот генотипов и аллелей VDR гена у детей с аллергическими заболеваниями и в популяции. Представленные результаты создают предпосылки для разработки новых методов профилактики дефицита витамина D с учетом индивидуальных особенностей его метаболизма. Purpose. To investigate the frequency of vitamin receptor gene D (VDR) polymorphism in children with allergic diseases. Materials and methods. The study included 130 children (66 boys and 64 girls) with allergic diseases aged from 1.5 to 16 years. All children underwent clinical and allergological examinations. Isolated allergies were diagnosed in 93 children (71.5%), mainly food allergy and atopic dermatitis; and in 37 children (28.4%) combined allergies (bronchial asthma, urticaria, allergic rhinitis, etc.) were diagnosed. For DNA allotment, "Proba-Rapid Genetics" kit by "DNA-Technology" (Russia) was used. Polymorphic markers FokI (rs2228570), BsmI (rs 1544410), and TaqI (rs 731236) of the VDR gene were analyzed by real-time PCR using a DT-96 detection amplifier and DNA diagnostic kits by "DNA- Technology" 25-OH metabolite (25-hydroxyvitamin D2 and D3) of vitamin D assay was performed by ELISA commercial kit "DIAsource" (Belgium). Results. Significantly increased frequency of A allele in BsmI site of VDR gene (OR=1.81, P=0.04) and carriage of homozygous A/A, heterozygous G/A of its genotype (OR=2.03, P=0.05 and OR=1.8, P=0.05 respectively) were revealed in children, suggesting possibility to consider it as a prognostic marker associated with the risk of allergic disease development. A statistically significant decrease in 25-OH vitamin D concentration (P=0.02) was established in children with heterozygous A/G variant and homozygous G/G Fok1 variant of VDR gene. Conclusion. There were significant differences in frequencies of genotypes and alleles of DVR gene in children with allergic diseases in the population. These results create the preconditions for the development of new methods of prevention of vitamin D deficiency, taking into account the individual characteristics of its metabolism. Significant differences in frequencies distribution of DVR gene genotypes and alleles in children with allergic diseases and in the population were revealed. The results presented create preconditions for developing new methods for vitamin D deficiency prevention, taking into account individual characteristics of its metabolism.

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Relationship between BsmI polymorphism and VDR gene methylation profile, gender, metabolic profile, oxidative stress, and inflammation in adolescents

Cited by 4 publications

References 45 publications

Polymorphism but not methylation status in the vitamin D receptor gene contributes to oral mucositis in children

Polymorphism but not methylation status in the vitamin D receptor gene contributes to oral mucositis in children

Interaction of Vitamin D Receptor Polymorphism With Inflammation and Calcification Markers, Effect on All-Cause Mortality in Women on Dialysis

Distribution of Alleles and Genotypes of VDR Gene in Children with Allergic Diseases

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