Vitamin D receptor polymorphisms in immune thrombocytopenic purpura

Yeşil, Şule; Tanyıldız, Hikmet Gülşah; Tekgündüz, Sibel Akpınar; Toprak, Şule; Fettah, Ali; Dikmen, Asiye Uğraş; Şahin, Gürses

doi:10.1111/ped.13273

Cited by 14 publications

(13 citation statements)

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“…3 The vitamin D receptor (VDR) gene can regulate immune responses in the body, inhibit abnormal cell activation, and maintain the stability of cell function. 4 A number of clinical studies have confirmed that vitamin D can effectively prevent and treat bronchial asthma by regulating the immune system, and both AR and bronchial asthma have similar etiology and pathogenesis and belong to the same category of diseases. 5,6 Changes in vitamin D levels in the body can regulate the immune system, and thus affect the occurrence of AR.…”

Section: Introductionmentioning

confidence: 99%

Association Between Vitamin D Receptor Gene Polymorphism rs2228570 and Allergic Rhinitis

Zhang¹,

Xu²

2020

PGPM

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Background: Vitamin D receptor (VDR) gene polymorphisms are involved in a variety of immune-related diseases, and VDR is associated with allergic rhinitis. The present study explored the associations between VDR gene polymorphisms and allergic rhinitis in the Chinese population. Methods: The study population consisted of 400 patients with allergic rhinitis and 400 healthy controls. General characteristics were determined by interview. Blood DNA was extracted and genotyping was performed via matrix-assisted laser desorption/ionization timeof-flight mass spectrometry. The associations of each genetic variant with risk for AR were assessed by calculating the odds ratio (OR) with 95% confidence interval (95% CI). Results: No significant differences were observed in general characteristics between cases and controls. The distributions of genotypes at the rs2228570 locus of the VDR gene conformed to Hardy-Weinberg equilibrium. There was a significant difference in the distribution of rs2228570 genotype (P<0.001) between cases and controls. Compared to GG and GA genotypes, the AA genotype increased the risk of AR (OR=3.27, 95% CI: 2.10-5.11, P=0.000; OR=2.58, 95% CI:1.63-4.08, P<0.001). Similar results were also observed in the dominant model (OR=1.64, 95% CI:1.24-2.17, P<0.001) and codominant model (OR=2.95, 95% CI:1.93-4.51, P<0.001). The A allele was still associated with elevated risk gene for AR after adjusting for potential confounding factors. Subgroup analyses indicated an interaction between alcohol and rs2228570 in the risk of allergic rhinitis. The A allele also increased the risk for AR in the population without asthma (OR=1.85, 95% CI:1.46-2.34, P<0.001). Conclusion: VDR gene polymorphism is associated with AR, and the AA genotype of rs2228570 is associated with the increased risk of AR in the Chinese population.

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Section: Introductionmentioning

confidence: 99%

Association Between Vitamin D Receptor Gene Polymorphism rs2228570 and Allergic Rhinitis

Zhang¹,

Xu²

2020

PGPM

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“…The mean 25(OH)D value at ITP diagnosis in our study (65 ± 24 nmol/L) can be considered as hypovitaminosis D [47,48,55]. Liu et al reported a mean 25(OH)D value of 43 ± 13 nmol/L in adult patients with ITP, while Yesil et al reported a mean 25(OH)D value of 47 ± 21 nmol/L in children with ITP [56,57]. The higher values in our study might be explained with the difference in the geographic origin of the patients that were included in our study.…”

Section: Discussionmentioning

confidence: 72%

Hypovitaminosis D Influences the Clinical Presentation of Immune Thrombocytopenia in Children with Newly Diagnosed Disease

Petrović

Benzon

Batinic

et al. 2019

JCM

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Immune thrombocytopenia (ITP) is an acquired autoimmune disorder characterized by isolated thrombocytopenia defined as platelet count in peripheral blood <100 × 109/L. Hypovitaminosis D is very common in children with autoimmune diseases. To analyze whether hypovitaminosis D is associated with the clinical presentation of ITP in children, medical records of 45 pediatric patients with newly diagnosed immune thrombocytopenia in the coastal region of Croatia were evaluated. The severity of bleeding was assessed using two bleeding scores. Children with lower 25-hydroxyvitamin D (25(OH)D) values had higher values of the skin-mucosa-organ-gradation (SMOG) bleeding score and respectively more severe bleeding on diagnosis of ITP. With further analysis of the main domains of that score, we found that patients with a lower 25(OH)D value had more severe bleeding in the skin and organs. When 25(OH)D and ITP Bleeding Scale (IBLS) score were analyzed, a negative correlation was found, but it was not significant. Our findings suggest that hypovitaminosis D influences the severity of the clinical presentation of ITP in children on initial diagnosis of the disease. Therefore, therapy with 25(OH)D could be a new potential option for treatment of ITP. To investigate the connection between 25(OH)D and the incidence and severity of ITP, further studies, especially randomized controlled studies, are needed.

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“…Аллель А Cdx-2 полиморфизма ассоцииро-вался с уменьшением риска иммунной тромбоци-топенической пурпуры. Статистически значимой разницы между группой больных и контрольной группой для полиморфизмов Fok1, Bsm1, Apa1 и Taq1 (р>0,5) не обнаружено [30].Активно изучается роль различных вариантов ге-нотипов полиморфизма гена VDR в развитии и тече-нии бронхиальной астмы как у детей, так и у взрос-лых. Исследование M. Iordanidou и соавт.…”

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Significance of Gene Polymorphism of Vitamin D Receptor in Human Pathology

Бухалко¹,

Скрипченко²,

Скрипченко³

et al. 2017

Ross. vestn. perinatol. pediatr.

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Долгое время с момента открытия в 1913 г. ви-тамин D рассматривался только с точки зре-ния фосфорно-кальциевого обмена. Результаты многочисленных исследований последних лет показали, что витамин D в виде его гормональ-но-активной формы 1,25-дигидроксихолекальци-ферола или кальцитриола (1,25(ОH) 2 D) имеет ряд не связанных с костной системой эффектов. Био-логическое действие (эндокринное, аутокринное, паракринное) 1,25(ОН) 2 D реализуется путем свя-зывания с рецепторами витамина D, которые лока-лизованы в большинстве клеток и тканей организ-ма, таких как кости, почки, кишечник, иммунная система (Т-клетки, макрофаги и моноциты), ре-продуктивная система (матка, яички, яичники, предстательная железа, плацента и молочные же-лезы), эндокринная система (поджелудочная желе-за, гипофиз, щитовидная железа и надпочечники), © Коллектив авторов, 2017Адрес для корреспонденции: Бухалко Марина Александровна -аспирант отдела нейроинфекций и органической патологии нервной системы Детского научно-клинического центра инфекционных болезней у детей; старший лаборант кафедры инфекционных болезней Санкт-Петербург-ского государственного педиатрического медицинского университета Скрипченко Наталья Викторовна -засл. деятель науки РФ, д.м.н. проф., зам. директора Детского научно-клинического центра инфекционных бо-лезней у детей; зав. кафедрой инфекционных заболеваний у детей 197022 Санкт-Петербург, ул. Профессора Попова, д. 9, ORCID: 0000-0001-8927-3176 Скрипченко Елена Юрьевна -к.м.н., ст. н.с. отдела нейроинфекций и ор-ганической патологии нервной системы Детского научно-клинического центра инфекционных болезней у детей; доц. кафедры психоневрологии Санкт-Петербургского государственного педиатрического медицинского университета; зав. детским неврологическим отделением Институт мозга человека им. Н.П.Бехтеревой Имянитов Евгений Наумович -чл.-корр. РАН, д.м.н. проф., зав. кафедрой общей и молекулярной медицинской генетики Санкт-Петербургского го-сударственного педиатрического медицинского университета; зав. отделом биологии опухолевого роста НИИ онкологии им. Н.Н. Петрова 194100 Санкт-Петербург, Литовская ул., д.2 62:(6): 23-28. DOI: 10.21508/1027 62:(6): 23-28. DOI: 10.21508/ -4065-2017 The literature review presents information on the role of gene polymorphism of vitamin D receptor in human pathology. According to modern data, vitamin D is a hormone which has numerous pleiotropic effects on the human body by binding to its specific receptors (VDR). These effects can greatly determine the role of vitamin D in the occurence and the course of a number of widespread diseases of a modern man, including infectious pathology, autoimmune diseases, neuropsychiatric disorders. Special importance is currently attached to the receptor gene of vitamin D, VDR, which is characterized by a genetic polymorphism that can determine the features of implementation of the biological effects of calcitriol in the human body. The article presents the review data supporting the contribution of certain single nucleotide polymorphisms of gene VDR in the formatio...

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Vitamin D receptor polymorphisms in immune thrombocytopenic purpura

Abstract: There appears to be an interaction between the Cdx-2 variant of VDR and childhood immune thrombocytopenia.

Cited by 14 publications

References 20 publications

<p>Association Between Vitamin D Receptor Gene Polymorphism rs2228570 and Allergic Rhinitis</p>

<p>Association Between Vitamin D Receptor Gene Polymorphism rs2228570 and Allergic Rhinitis</p>

Hypovitaminosis D Influences the Clinical Presentation of Immune Thrombocytopenia in Children with Newly Diagnosed Disease

Significance of Gene Polymorphism of Vitamin D Receptor in Human Pathology

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