NRAMP1, VDR, HLA-DRB1, and HLA-DQB1 Gene Polymorphisms in Susceptibility to Tuberculosis among the Chinese Kazakh Population: A Case-Control Study

Wu, Fang; Zhang, Wanjiang; Zhang, Le; Wu, Jiangdong; Li, Chunzhu; Meng, Xianmin; Wang, Xi; He, Ping; Zhang, Jie

doi:10.1155/2013/484535

Cited by 44 publications

(42 citation statements)

References 29 publications

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“…There were no significant differences of the Taq1-Tt and tt genotype frequencies between TB patients and healthy controls (16).…”

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

confidence: 72%

“…In addition, there is other evidence that emphasizes the variations in ethnicity for the susceptibility to TB (15). Different candidate genes have been examined in associated studies to evaluate the identity of the TB 'susceptibility factors,' including human leukocyte antigen (16,17), natural-resistance-associated macrophage protein 1 (16,17), VDR (11,16), cluster of differentiation 14 (18), interleukins (19) and Toll-like receptors (20).…”

Section: Discussionmentioning

confidence: 99%

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Association between vitamin D receptor polymorphisms and haplotypes with pulmonary tuberculosis

et al. 2014

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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...

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“…There were no significant differences of the Taq1-Tt and tt genotype frequencies between TB patients and healthy controls (16).…”

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

confidence: 72%

Section: Discussionmentioning

confidence: 99%

Association between vitamin D receptor polymorphisms and haplotypes with pulmonary tuberculosis

et al. 2014

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“…Additionally, a Taiwanese aboriginal casecontrol study revealed that individuals possessing one of the three polymorphism of the SLC11A1 gene have higher susceptibility to tuberculosis, with those who are heterozygous for the INT4 polymorphism being at greatest risk [6]. Similar findings have also been reported in Chinese, Korean, Japanese, Iranian, AfricanAmerican and Caucasian populations [7][8][9][10][11][12]. In bovine studies, a genomic region of the 3'UTR of the SLC11A1 cDNA gene sequence is associated with natural resistance against bTB.…”

Section: Introductionmentioning

confidence: 57%

Relationship of Bovine SLC11A1 (Formerly NRAMP1) Polymorphisms to the Risk of Bovine Tuberculosis in Holstein Cattle

Cheng

Huang²,

Tsai³

2015

J Veterinar Sci Technol

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Many studies suggest significant genetic variation in the resistance of cattle and humans to infection with Mycobacterium bovis, the causative agent of zoonotic tuberculosis. The natural resistance associated macrophage protein 1 (NRAMP1), encoded by the SLC11A1 gene, plays a key role in the immunological control of a broad spectrum of infectious agents. The aim of the present study was to investigate the influence of single nucleotide polymorphisms (SNPs) of the SLC11A1 gene on bovine tuberculosis (bTB) susceptibility. We genotyped the SLC11A1 gene in 60 bTB-infected Holstein cows and 90 healthy control animals. The influence in the exon 4 and intron 4 regions of SLC11A1 genetic variations on bTB susceptibility was subsequently investigated by association analysis. Our finding demonstrated that the g.107117166A>G and g.107117369C>T polymorphisms of the SLC11A1 gene associated with bTB in Holstein cattle. The susceptibility of cattle with the g.107117166A>G genotype compared with the GG genotype was 3.40 (95% CI: 1.10-10.51; p=0.048) fold higher. The g. 107117166A>G SNP located in the exon 4 of the SLC11A1 gene and the functional consequence was missense. The deduced amino acid sequence for the protein product revealed an alanine to threonine conversion at position 96, which may affect initiation of protein synthesis and disrupt normal NRAMP1 function that protects animals against mycobacterial infection. The other susceptibility of cattle with the g.107117369C>T genotype compared with the TT genotype was 0.26 (95% CI: 0.12-0.56; p=0.001) fold lower. The g.107117369C>T polymorphism, located in the intron 4 of the SLC11A1 gene, may affect elements that control transcription and splicing of the NRAMP1 leading to affect pathophysiological characteristics in tuberculosis. This is the first report showing that the g. 107117166A>G and g.107117369C>T polymorphisms may contribute to SLC11A1-mediated bTB susceptibility.

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“…110 Furthermore, HLA-DRB1*04 and HLA-DQB1*02:01 were associated with TB in Chinese patients. 111 Thus, several studies of HLA association with pulmonary tuberculosis have been carried out in Chinese, 111,112 Korean, 113 Indonesian, 114 Indian 115-121 and Russian patients. 122 Of the numerous Indian studies on HLA association with pulmonary tuberculosis, the earlier studies focussed on association of HLA Class I antigens 115,116 and later in family studies in North India 118,120 and South India 117,121 that focussed on HLA Class II antigens.…”

Section: Hla and Mycobacterium Tuberculosis Infectionmentioning

confidence: 99%

Major histocompatibility complex and its importance towards controlling infection

Longjam

Das

2017

Asian J Med Sci

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It is well documented that infectious pathogen burden and infected cell mass determine the clinical severity of infectious diseases, however, the ability of the host to recognize and process antigens to produce antibodies or the cellular immune response during infection could be under genetic control. The Major Histocompatibility Complex (MHC) or Human Leukocyte Antigen (HLA) system is the most intensively studied of all genetic systems because of its influence to many important traits, including resistance to infectious diseases, autoimmunity and immunological self or nonself compatibility. This is understandable in the light of the evolutionary pressure so that we are equipped to face the multitude of infectious challenges. Infectious diseases are a major selective pressure;and genes involved in the immune response are the most numerous and diverse in the human genome; reflecting the evolutionary advantages of a diverse immunological response to a wide range of infectious pathogens.Asian Journal of Medical Sciences Vol.8(2) 2017 1-13

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NRAMP1, VDR, HLA-DRB1, and HLA-DQB1 Gene Polymorphisms in Susceptibility to Tuberculosis among the Chinese Kazakh Population: A Case-Control Study

Cited by 44 publications

References 29 publications

Association between vitamin D receptor polymorphisms and haplotypes with pulmonary tuberculosis

Association between vitamin D receptor polymorphisms and haplotypes with pulmonary tuberculosis

Relationship of Bovine SLC11A1 (Formerly NRAMP1) Polymorphisms to the Risk of Bovine Tuberculosis in Holstein Cattle

Major histocompatibility complex and its importance towards controlling infection

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