Rs is a C T

Rs1524107 is a C/T single-nucleotide variation on human chromosome 7. It is single nucleotide polymorphisms in interleukin-6 (IL-6) gene. IL-6 are secreted by Toll-like receptor 2-expressing cells in response to the presence of Mycobacterium tuberculosis early in infection and are involved in anti-tuberculosis immunity in the body. High levels of IL-6 cytokine are produced in response to MTB infection, and its role seems especially critical when bacterial burden is high. Reports about the involvement of polymorphic variants within IL6 gene and TB susceptibility remain inconsistent. Rs1544410 is a C/T single-nucleotide variation on human chromosome 12. It is single nucleotide polymorphisms in vitamin D receptor (VDR) gene. Case control studies have previously reported independent associations between vitamin D deficiency and susceptibility to active TB. The case for vitamin D deficiency playing a causal role in enhancing disease susceptibility is supported by findings of genetic studies reporting that polymorphisms in the VDR and the vitamin D binding protein (DBP) genes modify the influence of vitamin D status on susceptibility to active disease in the UK. A prospective study in Pakistan has previously reported that vitamin D deficiency precedes onset of active disease, and laboratory studies have reported that vitamin D metabolites induce antimycobacterial activity in vitro. Rs9373523 is single nucleotide polymorphism in the syntaxin-binding protein 5 (STXBP5). STXBP5, also known as tomosyn-1, is a novel candidate for affecting platelet secretion. STXBP5 is a 130-kDa protein that was originally identified as a STX1-binding partner in neuronal tissue. STXBP5 belongs to a family of WD40 repeat-containing proteins associated with exocytosis and with the read full article cytoskeleton: Sro7/Sro77 in yeast, Tom1 in Caenorhabditis elegans, and STXBP5 in mammals. Our preliminary experiment showed that genotype distribution of rs9373523 between case and control group is different, so we further extend the sample size to investigate the association of rs9373523 with TB susceptibility. Rs4331426 is single nucleotide polymorphism on chromosome 18q11.2. Chromosome 18q11.2 is a gene-desert region that is punctuated by evolutionarily conserved domains with regulatory potential, and rs4331426 has been associated with TB by genome wide association studies in Ghana and Gambia. There is no data regarding the effect of this variant on TB risk in Uyghur populations. Thus, the present study discusses the possible association of rs4331426 genotypes with susceptibility to TB in Uyghur population.
Subjects and methods
Result
Discussion To the Best of Our Knowledge, this is the first molecular study to investigate the associations of the four SNPs with susceptibility to TB in Uyghur population. The genotypes of 258TB patients and 291 healthy control individuals showed significant associations of rs1524107, rs154410, rs9373523 with TB susceptibility. The development of TB is influenced by both environmental factors and host genetic factors. There was evidence suggesting association between single nucleotide polymorphism in microRNA-machinery genes and tuberculosis susceptibility in Chinese Tibetan population, and we want to know if there was any association between single nucleotide polymorphisms and tuberculosis susceptibility in Chinese Uyghur population. In this study we investigated the role of single nucleotide polymorphisms in susceptibility to TB in Uyghur population. We noted that rs1524107CT; rs1544410 CT and rs9373523GT genotype was associated with increased risk for TB, and detected an age-specific effect in rs1544410 and a sex-specific effect in rs9373523. Therefore, host genetic factors may play a significant role in susceptibility to TB in Chinese Uyghur population. Considering rs1524107, our study show that subjects carrying rs1524107 CT genotype had significantly increased risk for TB than individuals carrying TT genotype, but the association disappears after stratified by age and gender. Research on effect of rs1524107 on risk for TB is rare. Wen-Tsan Chang et al., demonstrated that rs1524107 CC homozygous genotypes may confer a greater risk for development of nephropathy in type 2 diabetes. IL-6 gene polymorphisms rs1524107 may serve as predictors of progression of nephropathy in Chinese patients with type 2 diabetes. Chen et al., suggested that Variant carriers of IL-6 rs1524107 were significantly associated with a reduced risk of late-onset Alzheimer\'s disease (LOAD), especially in ApoE e4 non-carriers. Therefore, IL-6 gene polymorphisms rs1524107 plays different roles in different illness, and our study showed that subjects carrying rs1524107 CT genotype had significantly increased risk for TB than individuals carrying TT genotype, but the association disappears after stratified by age and gender. Because the association disappeared after stratified by age and gender, we can’t exclude the influence of gender and age on the association of SNPs with susceptibility to TB, and also the influence of IL-6 gene polymorphisms rs1524107 on susceptibility to TB can’t be confirmed. Larger population-based studies with age-sex-matched control-group may be needed to confirm our findings.