PTPN22 gene polymorphism in Egyptian alopecia areata patients and its impact on response to diphencyprone immunotherapy

El-Zawahry, Bakr Mohamed; Abu-Azzam, Omar; Zaki, Naglaa Sameh; Abdelraheem, Heba Mohamed; Bassiouny, Dalia Ahmed; Khorshied, Mervat M.

doi:10.1016/j.gene.2013.03.070

Cited by 11 publications

(13 citation statements)

References 25 publications

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“…In the population of the current study, diseases including DM (4.7%), AH (29.7%), previous episodes of hair loss (4.7%) and vitiligo (4.7%) were detected. These results are observed at higher rates compared with those in an Egyptian population, as described in a previous study (14). In addition, we observed a tendency toward an association of DM and the development of alopecia in the group with normal homozygous genotype (CC genotype; Table III).…”

Section: Discussionsupporting

confidence: 83%

“…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).…”

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: Discussionsupporting

confidence: 83%

Section: Discussionmentioning

confidence: 99%

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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“…The DNA extractions were stored at −20°C until analyzed. The primers to detect STAT4 rs7574865 G/T and PTPN22 (rs2488457 G/C and rs2476601 C/T) polymorphisms were described in Table 2 , which were synthesized according to the previously published sequences by Genewiz Inc (Suzhou, China) [ 21 – 23 ]. The promoter region, exon 14 of PTPN22 and intron 3 of STAT4 were amplified by PCR using genomic DNA obtained from whole blood.…”

Section: Methodsmentioning

confidence: 99%

STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C Polymorphisms Influence the Risk of Developing Juvenile Idiopathic Arthritis in Han Chinese Patients

et al. 2015

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Juvenile idiopathic arthritis (JIA) is a common autoimmune disease characterized by environmental influences along with several predisposing genes in the pathogenesis. The protein tyrosine phosphatase nonreceptor 22 (PTPN22) and signal transducer and activator of transcription factor 4 (STAT4) have been recognized as susceptibility genes for numerous autoimmune diseases. Associations of STAT4 rs7574865 G/T and PTPN22 (rs2488457 G/C and rs2476601 C/T) polymorphisms with JIA have repeatedly been replicated in several Caucasian populations. The aim of this study was to investigate the influence of three polymorphisms mentioned above on the risk of developing JIA in Han Chinese patients. Genotyping was performed on a total of 137 Chinese patients with JIA (JIA group) and 150 sex and age frequency-matched healthy volunteers (Control group). The single-nucleotide polymorphisms (SNP) were determined by using direct sequencing of PCR-amplified products. There were significant differences of PTPN22 rs2488457 G/C and STAT4 rs7574865 G/T polymorphisms between both groups. However, no significant difference was observed in distribution frequencies of PTPN22 rs2476601 polymorphism. The association with the PTPN22 rs2488457 G/C polymorphism remained significant in the stratifications by age at onset, ANA status, splenomegaly, lymphadenectasis and involvement joints. As with the STAT4 rs7574865 G/T polymorphisms, the enthesitis-related arthritis and presence of hepatomegaly had strong effect on the association. Our data strengthen STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms as susceptibility factors for JIA.

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“…Recently, PTPN22 gene has been reported to be an additional immunoregulatory gene associated with AA. PTPN22 C1858T polymorphism has been associated with susceptibility of AA in Belgian, English, Egyptian, German, and Mexican populations ( Table 2) [38][39][40][41][42][43]. Two meta-analyses have also indicated an association with AA susceptibility [42,43].…”

Section: Alopecia Areata (Aa)mentioning

confidence: 99%

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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PTPN22 gene polymorphism in Egyptian alopecia areata patients and its impact on response to diphencyprone immunotherapy

Cited by 11 publications

References 25 publications

Association between PTPN22 C1858T polymorphism and alopecia areata risk

Association between PTPN22 C1858T polymorphism and alopecia areata risk

STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C Polymorphisms Influence the Risk of Developing Juvenile Idiopathic Arthritis in Han Chinese Patients

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

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