Could single-nucleotide polymorphisms (SNPs) affecting the tumour necrosis factor promoter be considered as part of rheumatoid arthritis evolution?

Aguillón, Juan Carlos; Cruzat, Andrea; Aravena, Octavio; Salazar, Lorena; Llanos, Carolina; Cuchacovich, Miguel

doi:10.1016/j.imbio.2005.09.005

Cited by 42 publications

(30 citation statements)

References 81 publications

(92 reference statements)

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“…For this reason, inflammatory infiltrate is considered to be the main trigger of colon carcinogenesis (Monteleone et al, 2012). It has been suggested that single nucleotide changes in the TNF-α gene promoter may modify the binding sites of specific transcription factors, thereby affecting transcriptional regulation and modulating the TNF-α secretory response (Aguillón et al, 2006;Gómez Flores-Ramos et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

Association between TNF-α-308G>A and -238G>A gene polymorphisms and TNF-α serum levels in Mexican colorectal cancer patients

et al. 2016

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ABSTRACT. The objective of this study was to examine the association between TNF-α serum levels and -308G>A and -238G>A polymorphisms in the corresponding gene by comparing healthy subjects to colorectal cancer (CRC) patients from a Mexican population. Serum levels of TNF-α were found to significantly differ between CRC patients and controls (P = 0.001), but no relationship between the -308G>A and -238G>A polymorphisms and increased CRC risk was established (P > 0.05). However, an association between the -308G>A variant and disease became evident when the distribution of AA-GA genotypes was examined in patients with hematologic toxicity (neutropenia) and those without (odds ratio = 3.356, 95% confidence interval = 1.295-8.698, P = 0.013). The GG haplotype was more common in controls than CRC patients, with a frequency of 0.85 among the former, but this difference was not significant (P > 0.05). In conclusion, TNF-α serum levels and AA-AG genotypes of the TNF-α -308G>A polymorphism may significantly contribute to CRC susceptibility in the population examined in this investigation.

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Section: Discussionmentioning

confidence: 99%

Association between TNF-α-308G>A and -238G>A gene polymorphisms and TNF-α serum levels in Mexican colorectal cancer patients

et al. 2016

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“…High frequencies of functionally relevant variants could represent a path toward a complete allele sweep, or it might show a signature of balancing evolution, wherein a polymorphism conveys protection against TB but homozygous carriers have reduced reproductive fitness or are at high risk of other diseases (1,143). In the latter case, allele frequencies are limited to a maximum level balancing negative and positive fitness attributes.…”

Section: Current Challenges and Potential Solutionsmentioning

confidence: 99%

“…(v) We note that many of the polymorphisms associated with TB represent regulatory variants rather than nonsynonymous SNPs that alter the amino acid sequence (e.g., TNF, NRAMP1, and TLR2) (1,18,265). It is perhaps intuitively obvious that regulation of gene expression could be a primary target of evolutionary pressure, since such changes are gradual and account for the balance that needs to be struck between, for example, immunity against TB and autoimmune disorders (1).…”

Section: Current Challenges and Potential Solutionsmentioning

confidence: 99%

“…For example, MHC-associated diseases may be the price paid for an effective immune response (235). Similarly, the same polymorphisms conveying partial resistance to M. tuberculosis infection-for example, promoter variants in TNF and NRAMP (199) that increase resistance-conversely enhance autoimmune reactions (1). A link between the spread of TB, as a result of human urbanization and high population density leading to enhanced infection rates, and rheumatoid arthritis was suggested in one study, paralleling the observation that therapy of rheumatoid arthritis with TNF antibodies results in increased TB rates (1).…”

mentioning

confidence: 99%

“…Similarly, the same polymorphisms conveying partial resistance to M. tuberculosis infection-for example, promoter variants in TNF and NRAMP (199) that increase resistance-conversely enhance autoimmune reactions (1). A link between the spread of TB, as a result of human urbanization and high population density leading to enhanced infection rates, and rheumatoid arthritis was suggested in one study, paralleling the observation that therapy of rheumatoid arthritis with TNF antibodies results in increased TB rates (1). The evolutionary history of the IRGM locus highlights the important role of the IRGM gene in autophagy and Crohn's disease in response to pathogenesis (20).…”

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confidence: 99%

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Innate Immune Gene Polymorphisms in Tuberculosis

2012

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ABSTRACTTuberculosis (TB) is a leading cause worldwide of human mortality attributable to a single infectious agent. Recent studies targeting candidate genes and “case-control” association have revealed numerous polymorphisms implicated in host susceptibility to TB. Here, we review current progress in the understanding of causative polymorphisms in host innate immune genes associated with TB pathogenesis. We discuss genes encoding several types of proteins: macrophage receptors, such as the mannose receptor (MR, CD206), dendritic cell-specific ICAM-3-grabbing nonintegrin (DC-SIGN, CD209), Dectin-1, Toll-like receptors (TLRs), complement receptor 3 (CR3, CD11b/CD18), nucleotide oligomerization domain 1 (NOD1) and NOD2, CD14, P2X7, and the vitamin D nuclear receptor (VDR); soluble C-type lectins, such as surfactant protein-A (SP-A), SP-D, and mannose-binding lectin (MBL); phagocyte cytokines, such as tumor necrosis factor (TNF), interleukin-1β (IL-1β), IL-6, IL-10, IL-12, and IL-18; chemokines, such as IL-8, monocyte chemoattractant protein 1 (MCP-1), RANTES, and CXCL10; and other important innate immune molecules, such as inducible nitric oxide synthase (iNOS) and solute carrier protein 11A1 (SLC11A1). Polymorphisms in these genes have been variably associated with susceptibility to TB among different populations. This apparent variability is probably accounted for by evolutionary selection pressure as a result of long-term host-pathogen interactions in certain regions or populations and, in part, by lack of proper study design and limited knowledge of molecular and functional effects of the implicated genetic variants. Finally, we discuss genomic technologies that hold promise for resolving questions regarding the evolutionary paths of the human genome, functional effects of polymorphisms, and corollary impacts of adaptation on human health, ultimately leading to novel approaches to controlling TB.

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Clinical, immunological, and genetic aspects in leprosy

Simon

Scherlock

Duthie

et al. 2011

Drug Development Research

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Leprosy is a chronic infection caused by Mycobacterium leprae. It affects the skin and peripheral nerves and can cause irreversible chronic disabilities. The worldwide registered number of cases in 2009 was 213,036. This review discusses clinical aspects of the disease, including leprosy reactions and neuronal damage, as well as immunological and immunogenetic aspects influencing disease susceptibility and outcome. The cardinal signs of leprosy are skin lesions with altered sensation, thickened peripheral nerves, and presence of alcohol acid-resistant bacilli in skin biopsy or lymph. Confirmatory examinations include (1) bacteriological examination, which allows patients' classification into two operational groups, multibacillary (MB) and paucibacillary (PB); and (2) histopathological examination, which permits stratification in different clinical forms. These clinical forms differ not only by histopathology but also according to the host's immune response to M. leprae. These forms comprise the extremes of (1) tuberculoid leprosy (TT), with a specific Th1 response and control of M. leprae multiplication; (2) lepromatous leprosy (LL) without Th1 response and preserved Th2 response; and (3) the interpolar clinical forms, borderline tuberculoid (BT), borderline borderline (BB), borderline lepromatous (BL), and indeterminate form (IL). Appropriate treatment is based on smear examination or the number of lesions at diagnosis. In the evolution of leprosy, acute inflammation, known as reactions, may occur during or after treatment. These reactions are classified into two main types: the type I reaction or reversal reaction (RR), and the type II reaction or erythema nodosum leprosum (ENL). The role of innate immune response to control the infection is supported by immunological and genetic studies. Drug Dev Res 72:509-527, 2011.

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Could single-nucleotide polymorphisms (SNPs) affecting the tumour necrosis factor promoter be considered as part of rheumatoid arthritis evolution?

Cited by 42 publications

References 81 publications

Association between TNF-α-308G>A and -238G>A gene polymorphisms and TNF-α serum levels in Mexican colorectal cancer patients

Association between TNF-α-308G>A and -238G>A gene polymorphisms and TNF-α serum levels in Mexican colorectal cancer patients

Innate Immune Gene Polymorphisms in Tuberculosis

Clinical, immunological, and genetic aspects in leprosy

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