Association of the protein tyrosine phosphatase non-receptor 22 polymorphism (PTPN22) with endometriosis: a meta-analysis

Pabalan, Noel; Jarjanazi, Hamdi; Christofolini, Denise Maria; Bianco, Bianca; Barbosa, Caio Parente

doi:10.1590/s1679-45082017rw3827

Cited by 7 publications

(6 citation statements)

References 30 publications

(51 reference statements)

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“…The current review revealed a number of risk factors for endometriosis, including early menarche,[43] increased BMI,[444546] environmental factors (including cigarette smoking),[47] and genetic factors. [4849] It seems some of our findings were consistent with other studies that early menarche, shorter menstrual length, duration of infertility, and family history of endometriosis are strongly associated with endometriosis,[85051] while higher parity and higher BMI are associated with decreased risk. [8] However, some associations have not yet been proven or disproven, such as smoking and the influence of diet.…”

Section: Discussionsupporting

confidence: 91%

Epidemiologic factors associated with endometriosis in East Asia

Yen

Kim

Lee

2019

Gynecol Minim Invasive Ther

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Aim:With a perplexing pathogenesis and an incidence rate of approximately 10% among women of reproductive age, endometriosis affects more women in Asia than in any other continent in the world. This paper reviews the available data on the epidemiology and risk factors associated with endometriosis in East Asia.Methods:Included studies were published between January 2000 and December 2016. Articles were required to include East Asian patients with a diagnosis of endometriosis and to study epidemiology, such as the prevalence and/or incidence, associated with inherited, environmental, and/or lifestyle factors. A total of 65 candidate articles were retrieved and 22 were included in the final review.Results:Only one study provided an estimate of prevalence (6.8%). Short menstrual cycle, family history of endometriosis, and some genetic polymorphisms are associated with the risk of developing endometriosis. Smoking, lower body mass index, and lower parity associated with increased risk of endometriosis were suggested as modifiable factors. Limitations of this study include the poor quality of data identified, and the language barriers behind the study retrieval.Conclusions:Data on the epidemiology of endometriosis in the East Asian populations are limited. The available data that examine potential genetic factors do not unveil whether such factors directly contribute to the increased risk of endometriosis. Further extensive studies on endometriosis in Asian women are required to improve the management of this disease.

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Section: Discussionsupporting

confidence: 91%

Epidemiologic factors associated with endometriosis in East Asia

Yen

Kim

Lee

2019

Gynecol Minim Invasive Ther

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“…PTPN22 is a coding gene for a protein involved in the responsiveness of B and T lymphocyte receptors, whose mutations may be responsible for the onset of autoimmune diseases. The associations observed between PTPN22 (C1858T) and the risk of endometriosis suggest that this polymorphism could be a useful marker of susceptibility to the disease [58].…”

Section: Genes Involved In Inflammation and Immune Responsementioning

confidence: 99%

Genetic Characterization of Endometriosis Patients: Review of the Literature and a Prospective Cohort Study on a Mediterranean Population

Angioni

D’Alterio

Coiana

et al. 2020

IJMS

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The pathogenesis of endometriosis is unknown, but some evidence supports a genetic predisposition. The purpose of this study was to evaluate the recent literature on the genetic characterization of women affected by endometriosis and to evaluate the influence of polymorphisms of the wingless-type mammalian mouse tumour virus integration site family member 4 (WNT4), vezatin (VEZT), and follicle stimulating hormone beta polypeptide (FSHB) genes, already known to be involved in molecular mechanisms associated with the proliferation and development of endometriotic lesions in the Sardinian population. Materials and Methods: In order to provide a comprehensive and systematic tool for those approaching the genetics of endometriosis, the most cited review, observational, cohort and case-control studies that have evaluated the genetics of endometriosis in the last 20 years were collected. Moreover, 72 women were recruited for a molecular biology analysis of whole-blood samples—41 patients affected by symptomatic endometriosis and 31 controls. The molecular typing of three single nucleotide polymorphisms (SNPs) was evaluated in patients and controls: rs7521902, rs10859871 and rs11031006, mapped respectively in the WNT4, VEZT and FSHB genes. In this work, the frequency of alleles, genotypes and haplotypes of these SNPs in Sardinian women is described. Results: From the initial search, a total of 73 articles were chosen. An analysis of the literature showed that in endometriosis pathogenesis, the contribution of genetics has been well supported by many studies. The frequency of genotypes observed in the groups of the study population of 72 women was globally coherent with the law of the Hardy–Weinberg equilibrium. For the SNP rs11031006 (FSHB), the endometriosis group did not show an increase in genotypic or allelic frequency due to this polymorphism compared to the control group (p = 0.9999, odds ratio (OR) = 0.000, 95% confidence interval (CI), 0.000–15.000 and p = 0.731, OR = 1639, 95% CI, 0.39–683, respectively, for the heterozygous genotype and the polymorphic minor allele). For the SNP rs10859871 (VEZT), we found a significant difference in the frequency of the homozygous genotype in the control group compared to the affected women (p = 0.0111, OR = 0.0602, 95% CI, 0.005–0.501). For the SNP rs7521902 (WNT4), no increase in genotypic or allelic frequency between the two groups was shown (p = 0.3088, OR = 0.4133, 95% CI, 0.10–1.8 and p = 0.3297, OR = 2257, 95% CI, 0.55–914, respectively, for the heterozygous genotype and the polymorphic minor allele). Conclusion: An analysis of recent publications on the genetics of endometriosis showed a discrepancy in the results obtained in different populations. In the Sardinian population, the results obtained do not show a significant association between the investigated variants of the genes and a greater risk of developing endometriosis, although several other studies in the literature have shown the opposite. Anyway, the data underline the importance of evaluating genetic variants in different populations. In fact, in different ethnic groups, it is possible that specific risk alleles could act differently in the pathogenesis of the disease.

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“…Although various hypotheses have been proposed to explain the etiology of endometriosis, the explanation of symptoms and presence of ectopic endometrial tissue and stroma at various sites is not very clear [246].…”

Section: Endometriosismentioning

confidence: 99%

“…In the presence of endometriosis, the PTPN22 C1858T polymorphism may cooperate with clinical and genetic factors to influence the course of disease and immune reactions. These cooperative interactions could result in a statistical association between PTPN22 C1858T and endometriosis [246].…”

Section: Endometriosismentioning

confidence: 99%

“…The lymphoid tyrosine phosphatase enzyme is encoded by PTPN22 gene and is a regulator of signaling through the T-cell receptor and forms a complex with the kinase Csk in T cells. The variant of PTPN22 C1858T polymorphism does not bind kinases properly and results in a gain-of-function enzyme [246,249,250]. The increased inhibition of T-cell receptor signaling caused by the PTPN22 C1858T polymorphism could predispose toward autoimmunity, either by affecting the thymic deletion of autoreactive T cells or by affecting the development or function of peripheral regulatory T cells [251].…”

Section: Endometriosismentioning

confidence: 99%

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The Protein Tyrosine Phosphatase Non-Receptor Type 22 (PTPN22) Gene Polymorphism and Susceptibility to Autoimmune Diseases

Huraib¹,

Harthi²,

Arfin³

et al. 2020

The Recent Topics in Genetic Polymorphisms

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The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene located on chromosomes 1p 13.3-13 encodes a lymphoid-specific tyrosine phosphatase (Lyp) which is involved in autoimmunity by preventing spontaneous T-cell activation and T-cell development and inactivating T-cell receptor-associated kinases and their substrates. Several single nucleotide polymorphisms (SNPs) have been identified in PTPN22, but only one PTPN22 C1858T has been intensively studied in relation to autoimmune diseases. The PTPN22 C1858T functional polymorphism is a strong non-HLA risk factor for several autoimmune diseases and considered to play an important role in etiology of diseases due to significant production of autoantibodies. However, available literature on PTPN22 C1858T polymorphism and autoimmune diseases shows inconsistencies and ethnic variations. Therefore, further genetic studies on patients suffering from various autoimmune diseases from different ethnicities and PTPN22 gene polymorphisms are expected to help better understand the pathogenesis and will contribute to the development of more targeted therapies and biomarkers.

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Association of the protein tyrosine phosphatase non-receptor 22 polymorphism (PTPN22) with endometriosis: a meta-analysis

Cited by 7 publications

References 30 publications

Epidemiologic factors associated with endometriosis in East Asia

Epidemiologic factors associated with endometriosis in East Asia

Genetic Characterization of Endometriosis Patients: Review of the Literature and a Prospective Cohort Study on a Mediterranean Population

The Protein Tyrosine Phosphatase Non-Receptor Type 22 (PTPN22) Gene Polymorphism and Susceptibility to Autoimmune Diseases

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