Association between FokI Polymorphism in Vitamin D Receptor Gene and Susceptibility to Spinal Tuberculosis in Chinese Han Population

Zhang, Hongqi; Deng, Ang; Guo, Chaofeng; Wang, Yuxiang; Chen, Lingqiang; Wang, Yongfu; Wu, Jianhuang; Liu, Jinyang

doi:10.1016/j.arcmed.2009.12.004

Cited by 42 publications

(34 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…There were no associations between these polymorphisms and TB among the African or South American populations (27). The association between the VDR Fok1 polymorphism and extra-PTB and spinal TB has been reported in American and Chinese Han populations, respectively (33,34).…”

Section: The Frequency Of the F-t-b And F-t-b Haplotypes Of The Vdr Fmentioning

confidence: 99%

Association between vitamin D receptor polymorphisms and haplotypes with pulmonary tuberculosis

et al. 2014

View full text Add to dashboard Cite

Abstract. The vitamin D receptor (VDR) is an important factor in activating immune response in different infectious diseases. The aim of the present study was to investigate the association between the VDR gene polymorphisms and pulmonary tuberculosis (PTB). The case control study was performed on 120 PTB patients and 131 healthy controls. Genetic analysis was performed by polymerase chain reaction and the restriction fragment length polymorphism method. The VDR Fok1 Ff genotype was associated with TB and the risk of PTB was two times higher in individuals with the Ff genotype. A higher frequency of f allele was observed in PTB patients and therefore, the f allele may be a risk factor for PTB susceptibility. There were no associations between the Taq1 and Bsm1 polymorphisms and PTB. In addition, haplotype analysis showed that the f-T-B and f-t-b haplotypes (Fok1, Taq1 and Bsm1) may have the potential to increase PTB susceptibility. In conclusion, the Ff genotype and f allele of the VDR Fok1 polymorphism were associated with PTB susceptibility. In addition, the f-T-B and f-t-b haplotypes may be the susceptible haplotypes for PTB. IntroductionTuberculosis (TB) is the result of infection with Mycobacterium tuberculosis (M. tuberculosis) and is a significant cause of morbidity and mortality worldwide. Each year >9 million people are infected by TB and >1.7 million succumb to TB annually (1). The incidence of TB in Iran has been reported as 13.7 per 100,000 in 2009; however, its incidence was higher in the Sistan-Balouchestan province, southeastern Iran. The higher incidence is due to bordering with Afghanistan and Pakistan; two countries with a high TB prevalence (2). Cell-mediated immunity is essential for suppression of Mycobacterial infection as it is an intracellular parasite (3). The fact that only 10% of those infected with M. tuberculosis progress to clinical disease revealed that genetic factors, as well as environmental factors are involved in the pathophysiology of TB (4).In addition, the host genetic basis of TB has been confirmed by twin studies that indicated a two times higher risk of disease in identical twins compared to non-identical twins (5).Several genes have been found to play a role in TB susceptibility and the relative significance of these genes in disease progression or various forms of disease is often modified by the ethnicity in different populations (6).The active form of vitamin D, 1-25-dihydroxyvitamin D 3 , is an important hormone that modulates the activity of different defense and immune cells, including lymphocytes, monocytes, macrophages and epithelial cells (7). Since vitamin D 3 increases phagocytosis via the activation of macrophages and affects immune response, it is potentially involved in the development of several diseases (8). Vitamin D 3 may limit the growth of M. tuberculosis in macrophages (7). Vitamin D 3 exerts its effects through the vitamin D receptor (VDR) and regulates numerous target genes by binding to its nuclear receptor. Active VDR binds to vitamin D response...

show abstract

Section: The Frequency Of the F-t-b And F-t-b Haplotypes Of The Vdr Fmentioning

confidence: 99%

Association between vitamin D receptor polymorphisms and haplotypes with pulmonary tuberculosis

et al. 2014

View full text Add to dashboard Cite

show abstract

“…A group of workers investigated the association between the FokI polymorphism in the vitamin-D receptor gene and spinal tuberculosis in a Chinese population and this gene was found to be associated with susceptibility to spinal tuberculosis. 19 Spinal involvement is usually a result of hematogenous spread of M. tuberculosis into the dense vasculature of cancellous bone of the vertebral bodies. The primary infection site is either a pulmonary lesion or an infection of the genitourinary system.…”

Section: Pathogenesis and Pathologymentioning

confidence: 99%

Spinal tuberculosis: A review

Garg

Somvanshi

2011

The Journal of Spinal Cord Medicine

617

660

View full text Add to dashboard Cite

Spinal tuberculosis is a destructive form of tuberculosis. It accounts for approximately half of all cases of musculoskeletal tuberculosis. Spinal tuberculosis is more common in children and young adults. The incidence of spinal tuberculosis is increasing in developed nations. Genetic susceptibility to spinal tuberculosis has recently been demonstrated. Characteristically, there is destruction of the intervertebral disk space and the adjacent vertebral bodies, collapse of the spinal elements, and anterior wedging leading to kyphosis and gibbus formation. The thoracic region of vertebral column is most frequently affected. Formation of a 'cold' abscess around the lesion is another characteristic feature. The incidence of multi-level noncontiguous vertebral tuberculosis occurs more frequently than previously recognized. Common clinical manifestations include constitutional symptoms, back pain, spinal tenderness, paraplegia, and spinal deformities. For the diagnosis of spinal tuberculosis magnetic resonance imaging is more sensitive imaging technique than x-ray and more specific than computed tomography. Magnetic resonance imaging frequently demonstrates involvement of the vertebral bodies on either side of the disk, disk destruction, cold abscess, vertebral collapse, and presence of vertebral column deformities. Neuroimaging-guided needle biopsy from the affected site in the center of the vertebral body is the gold standard technique for early histopathological diagnosis. Antituberculous treatment remains the cornerstone of treatment. Surgery may be required in selected cases, e.g. large abscess formation, severe kyphosis, an evolving neurological deficit, or lack of response to medical treatment. With early diagnosis and early treatment, prognosis is generally good.

show abstract

“…Так, исследование J. Zhang и соавт. по анализу предраспо-ложенности к костно-суставному туберкулезу у паци-ентов с различными вариантами ApaI полиморфизма показало, что частота генотипа АА была значительно выше в исследуемой группе, чем в группе контроля [20]. Метаанализ возможной связи между BsmI полимор-физмом гена VDR и риском легочного туберкулеза про-демонстрировал противоречивые результаты.…”

Section: обзоры литературыunclassified

Significance of Gene Polymorphism of Vitamin D Receptor in Human Pathology

Бухалко¹,

Скрипченко²,

Скрипченко³

et al. 2017

Ross. vestn. perinatol. pediatr.

View full text Add to dashboard Cite

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...

show abstract

Association between FokI Polymorphism in Vitamin D Receptor Gene and Susceptibility to Spinal Tuberculosis in Chinese Han Population

Cited by 42 publications

References 13 publications

Association between vitamin D receptor polymorphisms and haplotypes with pulmonary tuberculosis

Association between vitamin D receptor polymorphisms and haplotypes with pulmonary tuberculosis

Spinal tuberculosis: A review

Significance of Gene Polymorphism of Vitamin D Receptor in Human Pathology

Contact Info

Product

Resources

About