Familial risk of tuberculosis (TB) has been recognized for centuries Largely through studies of mono- and dizygotic twin concordance rates, studies of families with Mendelian susceptibility to mycobacterial disease, and candidate gene studies performed in the 20th century, it was recognized that susceptibility to TB disease has a substantial host genetic component Limitations in candidate gene studies and early linkage studies made the robust identification of specific loci associated with disease challenging, and few loci have been convincingly associated across multiple populations Genome-wide and transcriptome-wide association studies, based on microarray (commonly known as genechip) technologies, conducted in the past decade have helped shed some light on pathogenesis but only a handful of new pathways have been identified This apparent paradox, of high heritability but few replicable associations, has spurred a new wave of collaborative global studies This review aims to comprehensively review the heritability of TB, critically review the host genetic and transcriptomic correlates of disease, and highlight current studies and future prospects in the study of host genomics in TB An implicit goal of elucidating host genetic correlates of susceptibility to Mycobacterium tuberculosis infection or TB disease is to identify pathophysiological features amenable to translation to new preventive, diagnostic, or therapeutic interventions The translation of genomic insights into new clinical tools is therefore also discussed

The Role of Host Genetics (and Genomics) in Tuberculosis.

Background and Objective: Tuberculosis (TB), the leading cause of morbidity and mortality by a single infectious agent, Mycobacterium tuberculosis, is still a major health problem in the world. To date, many studies have shown evidence of association between host genetic polymorphisms and TB susceptibility, including chemokine (C-C motif) ligand 2 (CCL-2)/monocyte chemoattractant protein1 (MCP-1), natural resistance-associated macrophage protein 1 (NRAMP-1)/solute carrier protein 11A1 (SLC11A1), Immunity-related GTPase family M protein (IRGMI), interleukin (IL)-8, toll-like receptor (TLR), and nucleotide-binding oligomerization domain containing protein-2 (NOD-2) genes. Most of these genes participate in immune response, and their polymorphism can alter immunity and lead to genetic susceptibility to TB. Materials and Methods: This is a special article compiled with reference to various case-control studies, meta-analysis, and other research work on different genes and TB. The genes selected and a number of studies from different countries and ethnic groups for this article are shown below. The genes selected for the study are: NRAMP-1 (SLC11 A1), Vitamin D receptor, low molecular weight polypeptide/transporter with antigen processing, CCL-2/MCP-1, IRGM-1, IL-1, IL-8, IL-10, IL-12, TLR, NOD-2, human leukocyte antigen, mannose-binding lectin, major histocompatibility complex, tumor necrosis factor, P2X 7, epiregulin, SP110, and interferon gamma (IFN-gamma). Results: Genetic polymorphisms in different genes showed variable levels of significance in relation to TB. All these were proved by the researchers using appropriate statistical methods and tools. Conclusions: Based on different research works across the world, there is sufficient evidence to prove that TB is a genetically primed and determined infectious disease caused by M. tuberculosis and the genetic polymorphism is the mechanism that leads to progression from infection to TB disease. Why only 10–15% of the people infected with M. tuberculosis progress toward TB disease has continued to be an unresolved debate. Hence, for provoking thoughts and encouraging more research in the field of genetics and TB I formulated hypothesis and algorithms, and theory. Genetic susceptibility to TB has been substantiated based on the extensive literature review and the research findings that are well narrated.

Host genetics and tuberculosis: Theory of genetic polymorphism and tuberculosis

The influence of TAP1 and TAP2 gene polymorphisms on TAP function and its inhibition by viral immune evasion proteins.

https://www.ajol.info/index.php/ejhg/article/view/84563/74560

Non-HLA gene polymorphisms and their implications on dengue virus infection

TAP1 and TAP2 genes encode heterodimeric molecule involved in endogenous antigen processing. The present study was undertaken to find out the possible association between TAP1 and TAP2 polymorphisms and risk of pulmonary tuberculosis (PTB) in a sample of Iranian population. Polymorphisms of TAP1 (rs1057141, rs1135216) and TAP2 (rs2228396, rs241447, rs67511411, rs141555015) were determined in 173 PTB patients and 164 healthy subjects. Our findings showed that rs1135216 AG, GG and AG+GG genotypes increased the risk of PTB in comparison with AA (OR=2.36, 95%CI=1.47-3.79, p<0.001; OR=19.13, 95%CI=2.47-148.2, p<0.001 and OR=2.77, 95%CI=1.74-4.39, p<0.001, respectively). The rs1135216 G allele was associated with increased risk of PTB (OR=2.65, 95%CI=1.784-3.969, p<0.001). TAP2 rs241447 AG and AG+GG genotypes decreased the risk of PTB (OR=0.41, 95%CI=0.26-0.65, p<0.001; OR=0.54, 95%CI=0.35-0.85, respectively). No significant association was found between TAP1 (rs1057141), TAP2 (rs2228396, rs67511411, rs141555015) variants and PTB. In conclusion, our findings proposed that TAP gene polymorphisms might be associated with PTB susceptibility among patients in Zahedan, southeast Iran.

/pdf/association-of-tap1-and-tap2-gene-polymorphisms-with-1ptjos8yx8.pdf

Association of TAP1 and TAP2 Gene Polymorphisms with Susceptibility to Pulmonary Tuberculosis

Background 
Tuberculosis (TB) is a contagious disease affected by multiple genetic and environmental factors. Several association studies have suggested that cellular immune response is vital for controlling and preventing of tuberculosis infection. Low molecular weight polypeptides (LMPs) and transporters with antigen processing (TAPs) are the main molecules in the processing and presentation pathway for intracellular antigens. This study was performed to elucidate whether these antigen-processing genes (LMP/TAP) polymorphisms could be associated with the risk of tuberculosis infection in China.


Methodology/Principal Findings 
We recruited 205 active pulmonary tuberculosis patients and 217 normal controls from Li population for this study. Four polymorphisms of LMP/TAP genes were determined by PCR-RFLP assay and haplotypes were constructed by software PHASE 1.0. Of the total four polymorphisms, genotype frequencies of LMP7 AA homozygote and CA heterozygote were significantly greater among cases compared to controls, with odds ratio of 3.77 (95% CI: 1.60–8.89; P = 0.002) and 2.97 (95% CI: 1.80–4.90; P<0.0001), respectively. The genotypes of TAP1-2 GG homozygote and AG heterozygote were more frequent in subjects with TB than in controls, with odds ratio of 3.94 (95% CI: 1.82–8.53; P = 0.001) and 2.87 (95% CI: 1.75–4.71; P<0.0001), respectively. Similarly, we found that haplotype B which carried LMP7 and TAP1-2 variations significantly increased the susceptibility to TB (OR = 3.674, 95% CI: 2.254–5.988; P<0.0001). Moreover, it is noteworthy that the homozygote of wild haplotype A (A/A) may be a strong protection for TB infection.


Conclusions 
Our findings suggested that LMP/TAP gene polymorphisms might be risk factors for TB infection among Li population in China.

/pdf/association-of-lmp-tap-gene-polymorphisms-with-tuberculosis-8tzxvme9x5.pdf

Association of LMP/TAP gene polymorphisms with tuberculosis susceptibility in Li population in China.

https://doi.org/10.1016/j.heliyon.2023.e15578

The effect of antibiotic prophylaxis on the incidence of surgical site infection after laparoscopic appendectomy for chronic appendicitis

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Association of LMP/TAP gene polymorphisms with tuberculosis susceptibility in Li population in China.

The effect of antibiotic prophylaxis on the incidence of surgical site infection after laparoscopic appendectomy for chronic appendicitis