Association between the PTPN22 1858C/T gene polymorphism and tuberculosis resistance

Boechat, Antônio Luiz; Ogusku, Maurício Morishi; Sadahiro, Aya; Santos, Maria Cristina dos

doi:10.1016/j.meegid.2013.02.019

Cited by 24 publications

(21 citation statements)

References 39 publications

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“…This finding concerning the negative association between the PTPN22 1858T (620W) allele and pulmonary TB is in agreement with the results reported concerning Colombian and Brazilian populations (Boechat, Ogusku, Sadahiro, & dos Santos, ; Gomez et al., ). By contrast, this result contradicts data reported regarding an Iranian ethnic group (Zahedan), in which the minor allele T is not associated with susceptibility to TB (Kouhpayeh et al., ).…”

Section: Candidate Genes and The Risk Of Developing Tbsupporting

confidence: 93%

Current immunogenetic predisposition to tuberculosis in the Moroccan population

Qrafli

Najimi

Elaouad

et al. 2017

Int J Immunogenetics

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Tuberculosis (TB) is a serious infectious disease that kills approximately two million people per year, particularly in low- and middle-income countries. Numerous genetic epidemiology studies have been conducted of many ethnic groups worldwide and have highlighted the critical impact of the genetic environment on TB distribution. Many candidate genes associated with resistance or susceptibility to TB have been identified. In Morocco, where TB is still a major public health problem, various observations of clinical, microbiological and incidence distribution are heavily affected by genetic background and external environment. Morocco has almost the same clinical profile as do other North African countries, mainly the increase in more extrapulmonary than pulmonary forms of the diseases, when compared to European, Asian or American populations. In addition, a linkage analysis study that examined Moroccan TB patients identified a unique chromosome region that had a strong association with the risk of contracting TB. Other genes in the Moroccan population that were found to be associated seem to be involved predominantly in modulating the innate immunity. In this review, we appraise the major candidate genes that have been reported in Moroccan immunogenetic studies and discuss their updated role in TB, particularly during the first phase of the immune response to Mycobacterium tuberculosis (Mtb) infection.

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Section: Candidate Genes and The Risk Of Developing Tbsupporting

confidence: 93%

Current immunogenetic predisposition to tuberculosis in the Moroccan population

Qrafli

Najimi

Elaouad

et al. 2017

Int J Immunogenetics

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“…Thus, PTPN22 variants appear to be generally predisposing to risk of autoimmunity. Interestingly, there are some studies that suggest that those variants that increases the risk of autoimmunity might confer protection against tuberculosis [33,34]. …”

Section: Genetics Of Oligoarticular Jia/polyarticular Rf-negative Jiamentioning

confidence: 99%

Immunogenetics of juvenile idiopathic arthritis: A comprehensive review

Hersh

Prahalad

2015

Journal of Autoimmunity

115

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Juvenile idiopathic arthritis (JIA) is the most common chronic inflammatory arthropathy of childhood. Juvenile idiopathic arthritis is believed to be a complex genetic trait influenced by both genetic and environmental factors. Twin and family studies suggest a substantial role for genetic factors in the predisposition to JIA. Describing the genetics is complicated by the heterogeneity of JIA; the International League of Associations for Rheumatology (ILAR) has defined seven categories of JIA based on distinct clinical and laboratory features. Utilizing a variety of techniques including candidate gene studies, the use of genotyping arrays such as Immunochip, and genome wide association studies (GWAS), both human leukocyte antigen (HLA) and non-HLA susceptibility loci associated with JIA have been described. Several of these polymorphisms (e.g. HLA class II, PTPN22, STAT4) are shared with other common autoimmune conditions; other novel polymorphisms that have been identified may be unique to JIA. Associations with oligoarticular and RF-negative polyarticular JIA are the best characterized. A strong association between HLA DRB1:11:03/04 and DRB1:08:01, and a protective effect of DRB1:15:01 have been described. HLA DPB1:02:01 has also been associated with oligoarticular and RF-negative polyarticular JIA. Besides PTPN22, STAT4 and PTPN2 variants, IL2, IL2RA, IL2RB, as well as IL6 and IL6R loci also harbor variants associated with oligoarticular and RF-negative polyarticular JIA. RF-positive polyarticular JIA is associated with many of the shared epitope encoding HLA DRB1 alleles, as well as PTPN22, STAT4 and TNFAIP3 variants. ERA is associated with HLA B27. Most other associations between JIA categories and HLA or non-HLA variants need confirmation. The formation of International Consortia to ascertain and analyze large cohorts of JIA categories, validation of reported findings in independent cohorts, and functional studies will enhance our understanding of the genetic underpinnings of JIA.

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“…In addition, the effects of genotype on phenotype for any given population may depend on the environment and length of exposure to an undefined etiological insult. Differences in allele and genotype frequencies among populations reflect the contribution of evolutionary forces such as selection, genetic drift, mutation and migration [46], which might explain why some risk alleles to autoimmunity may be protective factors to infectious diseases and vice versa [47]. Immune and infectious agents have been recognized as among the strongest selective pressures for natural populations [47].…”

Section: Introductionmentioning

confidence: 99%

“…Differences in allele and genotype frequencies among populations reflect the contribution of evolutionary forces such as selection, genetic drift, mutation and migration [46], which might explain why some risk alleles to autoimmunity may be protective factors to infectious diseases and vice versa [47]. Immune and infectious agents have been recognized as among the strongest selective pressures for natural populations [47]. Further research regarding exploration of the interplay between infection, type of exposure, additional environmental factors (for example, microbioma) and autoimmunity will result in the discovery of multiple factors underpinning perhaps newly identified physiopathology mechanisms of ADs.…”

Section: Introductionmentioning

confidence: 99%

What is next after the genes for autoimmunity?

Castiblanco

Arcos‐Burgos

Anaya

2013

BMC Med

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Clinical pathologies draw us to envisage disease as either an independent entity or a diverse set of traits governed by common physiopathological mechanisms, prompted by environmental assaults throughout life. Autoimmune diseases are not an exception, given they represent a diverse collection of diseases in terms of their demographic profile and primary clinical manifestations. Although they are pleiotropic outcomes of non-specific disease genes underlying similar immunogenetic mechanisms, research generally focuses on a single disease. Drastic technologic advances are leading research to organize clinical genomic multidisciplinary approaches to decipher the nature of human biological systems. Once the currently costly omic-based technologies become universally accessible, the way will be paved for a cleaner picture to risk quantification, prevention, prognosis and diagnosis, allowing us to clearly define better phenotypes always ensuring the integrity of the individuals studied. However, making accurate predictions for most autoimmune diseases is an ambitious challenge, since the understanding of these pathologies is far from complete. Herein, some pitfalls and challenges of the genetics of autoimmune diseases are reviewed, and an approximation to the future of research in this field is presented.

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Association between the PTPN22 1858C/T gene polymorphism and tuberculosis resistance

Cited by 24 publications

References 39 publications

Current immunogenetic predisposition to tuberculosis in the Moroccan population

Current immunogenetic predisposition to tuberculosis in the Moroccan population

Immunogenetics of juvenile idiopathic arthritis: A comprehensive review

What is next after the genes for autoimmunity?

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