PTPN22 profile indicates a novel risk group in Alopecia areata

Bhanusali, Dhaval G; Sachdev, Amit; Olson, Megan A.; Gerlach, John; Sinha, Animesh A.

doi:10.1016/j.humimm.2013.09.003

Cited by 13 publications

(10 citation statements)

References 35 publications

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“…Only a limited number of worldwide studies have investigated the association between PTPN22 C1858T polymorphism and the development of AA, conferring susceptibility to the development of AA in English (45), Belgian-German (13), Egyptian (14) and North American Caucasian and non-Caucasian populations (46). The PTPN22 C1858T genotype frequency varies based on the ethnicity, ranking between 1.43% (in the Chinese population) and 21.3% (in the North American population) (15). Nevertheless, the PTPN22 C1858T polymorphism has not been previously assessed for AA in other American populations.…”

Section: Discussionmentioning

confidence: 99%

“…In AA, the SNP rs2476601 has been identified as a risk factor in several populations including: i) In Belgian-German patients with a family history of AA or early onset (13); ii) in Egyptian patients, in which the predisposition to severe forms of the disease and the response to treatment were investigated (14); and iii) in North American patients with severe AA forms (15). However, only a small number of studies have been conducted on the PTPN22 gene in Mexico and they are limited to other immune pathologies (16,17).…”

Section: Introductionmentioning

confidence: 99%

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Association between PTPN22 C1858T polymorphism and alopecia areata risk

Salinas-Santander

Sánchez‐Domínguez

Cantú-Salinas

et al. 2015

Experimental and Therapeutic Medicine

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Alopecia areata (AA) is a skin condition in which hair is lost from certain or all areas of the body. This condition has been described as an immune-mediated complex genetic disease, characterized by the presence of lymphocytes that are directed to the hair follicles in the anagen phase. The gene encoding the protein tyrosine phosphatase, non-receptor type 22 (PTPN22), which is exclusively expressed in immune cells, has been considered as a risk factor associated with a number of autoimmune diseases. In AA, the single nucleotide polymorphism, rs2476601, has been identified as a risk factor in several populations. The aim of the present study was to investigate the effect of PTPN22 C1858T inherited genetic polymorphism on the predisposition to severe forms of AA, in a case-control study on individuals. The study included 64 unrelated patients diagnosed with several types of AA, as well as 225 healthy unrelated subjects. The DNA samples were genotyped for PTPN22 C1858T polymorphism using the polymerase chain reaction-restriction fragment length polymorphism technique. Causal associations were determined by χ test and their respective odds ratio (OR) was assessed in a 2×2 contingency table. The results demonstrated a significant association of the T allele [P=0.040; OR=3.196; 95% confidence interval (CI), 0.094-10.279] and the CT genotype (P=0.038; OR=3.313; 95% CI, 1.008-10.892) with patchy AA. In conclusion, the results of the present study suggested the possible involvement of the T allele of the PTPN22 C1858T SNP as a genetic risk factor for this type of AA in the population studied.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Association between PTPN22 C1858T polymorphism and alopecia areata risk

Salinas-Santander

Sánchez‐Domínguez

Cantú-Salinas

et al. 2015

Experimental and Therapeutic Medicine

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“…Dhaval et al, 20 in an attempt to clarify the association between PTPN22 genotype frequency and disease severity stratified the patients’ group according to the National Alopecia Areata Registry (NAAR) classification Ontario into mild group (transient AA [AAT] ˂1 year + alopecia areata persistent [AAP] > 1 year) and severe group (alopecia totalis AT + alopecia AU universalis) and failed to prove any difference between the 2 groups regarding the genotype frequency. Then, mild and severe patient groups were further studied; within the mild group, no significant variance was found between AAT, AAP, or AU patients and PTPN22 genotype frequency.…”

Section: Discussionmentioning

confidence: 99%

Protein tyrosine phosphatase nonreceptor type 22 gene polymorphism in alopecia areata: Does it have an association with disease severity?

Shehata

Maraee

Kamal

et al. 2020

J of Cosmetic Dermatology

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Background Alopecia areata is a condition involving hair loss from certain or all areas of the body. It has been considered as an immune‐mediated disease, characterized by the infiltration of CD4+ and CD8+ lymphocytes in the hair follicles. Aim of the study The study aimed to assess whether protein tyrosine phosphatase nonreceptor type 22 gene single nucleotide polymorphism 1858C/T has any relationship with alopecia areata in Egyptian patients and whether it is associated with disease severity or not. Subjects and methods Protein tyrosine phosphatase nonreceptor type 22 (PTPN22) C1858T gene polymorphism was identified using polymerase chain reaction‐restriction fragment length polymorphism analysis technique in 60 patients suffering from alopecia areata and 30 age‐ and sex‐matched healthy controls. Disease severity was assessed using SALT score. Results CT and TT genotypes were significantly higher in the patients’ group (P = .005), OR = 4.38 95% CI [1.48‐12.96], with significant statistical predominance of T allele in patients, P = .003, OR = 3.86, 95% CI [1.52‐9.77]. There was also a positive significant relationship between protein tyrosine phosphatase nonreceptor type 22 genotype CT and SALT score. Conclusion PTPN22 1858T allele is associated with the development and severity of alopecia areata in Egyptians.

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“…AA is an autoimmune disease characterized by localized or global hair loss due to the collapse of the HF IP and the subsequent autoaggression of cytotoxic T cells leading to premature catagen entry. Importantly, several lines of evidence suggest that a loss-of-function single-nucleotide polymorphism (C1858T substitution; “R620W variant”; “rs2476601”) of PTPN22 (a phosphatase involved in synthesizing AEA [48], which normally suppresses T-cell proliferation), which leads to its rapid degradation, is coupled to several autoimmune diseases (for details, see [31]), including alopecia areata (AA) [146,147,148,149,150,151,152]. Although PTPN22 has several other functions besides AEA synthesis [153], and eCB levels were not measured yet in lesional skin of AA patients, one might hypothesize based on the above correlation that a decrease in the anti-inflammatory eCB-tone induced by PTPN22 dysfunction might contribute to the onset of the disease.…”

Section: Translational Potential Of the Cutaneous Cannabinoid Signmentioning

confidence: 99%

Cannabinoid Signaling in the Skin: Therapeutic Potential of the “C(ut)annabinoid” System

et al. 2019

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The endocannabinoid system (ECS) has lately been proven to be an important, multifaceted homeostatic regulator, which influences a wide-variety of physiological processes all over the body. Its members, the endocannabinoids (eCBs; e.g., anandamide), the eCB-responsive receptors (e.g., CB1, CB2), as well as the complex enzyme and transporter apparatus involved in the metabolism of the ligands were shown to be expressed in several tissues, including the skin. Although the best studied functions over the ECS are related to the central nervous system and to immune processes, experimental efforts over the last two decades have unambiguously confirmed that cutaneous cannabinoid (“c[ut]annabinoid”) signaling is deeply involved in the maintenance of skin homeostasis, barrier formation and regeneration, and its dysregulation was implicated to contribute to several highly prevalent diseases and disorders, e.g., atopic dermatitis, psoriasis, scleroderma, acne, hair growth and pigmentation disorders, keratin diseases, various tumors, and itch. The current review aims to give an overview of the available skin-relevant endo- and phytocannabinoid literature with a special emphasis on the putative translational potential, and to highlight promising future research directions as well as existing challenges.

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PTPN22 profile indicates a novel risk group in Alopecia areata

Cited by 13 publications

References 35 publications

Association between PTPN22 C1858T polymorphism and alopecia areata risk

Association between PTPN22 C1858T polymorphism and alopecia areata risk

Protein tyrosine phosphatase nonreceptor type 22 gene polymorphism in alopecia areata: Does it have an association with disease severity?

Cannabinoid Signaling in the Skin: Therapeutic Potential of the “C(ut)annabinoid” System

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