Association of Rs231775 Genetic Variant of Cytotoxic T-lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case–Control Study

Ismail, Nader; Toraih, Eman A.; Ameen, Hatem Mohamed; Gomaa, Amal H. A.; Marie, Radwa El‐Sayed Mahmoud

doi:10.1080/08820139.2020.1796700

Cited by 7 publications

(3 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In support of the potential influence of CTLA4 variants on AA risk, 22 tagging SNPs analyzed in a sample of >1000 unrelated patients from Central Europe confer a strong association with AA susceptibility, particularly for rs12990970, rs1427678, rs231775, and rs3087243 SNPs with the severe forms of the disease ( John et al., 2011 ). Moreover, CTLA4 rs231775 was identified as a key genetic locus in Egyptian patients with AA ( Ismail et al., 2020 ). Similarly, this variant has also been identified in the Italian population for its strong association with AA susceptibility.…”

Section: Discussionmentioning

confidence: 99%

Genetic predisposition of alopecia areata in jordanians: A case-control study

AL-Eitan

Alghamdi

Momani

et al. 2022

Heliyon

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

Genetic predisposition of alopecia areata in jordanians: A case-control study

AL-Eitan

Alghamdi

Momani

et al. 2022

Heliyon

View full text Add to dashboard Cite

“…Megiorni et al found no association between the rs231775 variant and the risk of developing AA, in an Italian population [ 12 ]. Ismail et al found a protective effect on the G allele (OR: 0.44, 95% CI: 0.23–0.85) when compared to the homozygous form of the A allele ( GG + AG vs AA ), in an Egyptian male population [ 23 ] Finally, Salinas-Santander et al study in a Mexican population, found no association between rs231775 and rs3087243 polymorphisms and the development of AA [ 25 ]. The later demonstrates that the rs231775 and rs3087243 variants of the CTLA4 gene play an important role in the pathophysiology of AA, however, they must be carefully interpreted according to the origin of the population.…”

Section: Discussionmentioning

confidence: 99%

Effect of PTPN22, FAS/FASL, IL2RA and CTLA4 genetic polymorphisms on the risk of developing alopecia areata: A systematic review of the literature and meta-analysis

et al. 2021

View full text Add to dashboard Cite

Objectives Genetic association studies on alopecia areata (AA) performed in various populations have shown heterogeneous results. The aim of the current review was to synthesize the results of said studies to estimate the impact of FAS, FASL, PTPN22, CTLA4 and IL2RA gene polymorphisms on AA susceptibility. Design A systematic literature search was conducted in the Medline, Web of Science, Scopus, EMBASE and LILACS databases. Studies published up to June 2020 were included. The results available in the grey literature including the Open Grey and Google Scholar databases were also used. The texts of potentially related studies were screened by individual reviewers. Evidence of publication bias was assessed using the Newcastle-Ottawa scale and the quality of evidence was assessed using the GRADE system. The quantitative synthesis was performed using the fixed effect model. Results Out of 1784 articles, we identified 18 relevant articles for the qualitative synthesis and 16 for the quantitative synthesis. In a study of rs2476601 polymorphism of PTPN22 gene, including 1292 cases and 1832 controls, a correlation was found with the risk of developing AA in the allelic model (OR1.49 [95% C:1.13–1.95]), the heterozygous codominant (OR1.44 [95% CI:1:19–1.76]) and dominant model (OR1.43 [95% CI:1.18–1.73]). No association was found between the presence of FASL, PTPN22, CTLA and IL2RA gene polymorphisms with AA susceptibility. Conclusions The results suggest that the T allele of the single nucleoid polymorphism (SNP) rs2476601 in PTPN22 gene is a risk factor for developing alopecia areata. However, more robust studies defining the ethnic background of the population of origin are required, so that the risk identified in the present study can be validated. Additionally, a greater number of studies is necessary to evaluate the role of the FAS, FASL, PTPN22, CTLA4 and IL2RA genetic variants, given the heterogenous results found in the literature.

show abstract

“…Alopecia areata (AA) is an acquired non-cicatricial hair loss disorder affecting 0.1%–0.2% of individuals worldwide [ 1 ]. A collapse of the hair follicle (HF) immune privilege causing a CD8+ cytotoxic T (cT) cell assault against anagen HFs is implicated in AA development [ 2 , 3 ].…”

Section: Introductionmentioning

confidence: 99%

Gene Expression of CD70 and CD27 Is Increased in Alopecia Areata Lesions and Associated with Disease Severity and Activity

Marie

El‐Fadeal

Marei

et al. 2022

Dermatology Research and Practice

Self Cite

View full text Add to dashboard Cite

Background. Alopecia areata (AA) is an acquired hair loss disorder induced by a cell-mediated autoimmune attack against anagen hair follicles. CD27-CD70 is a receptor-ligand complex which enhances T helper and cytotoxic T cell activation, survival, and proliferation. The overstimulation of this complex can lead to a lack of tolerance and the development of autoimmunity. Objectives. This study aimed to assess the gene expression of CD27 and CD70 in patients with AA. Methods. CD70 and CD27 mRNA expressions were evaluated by a quantitative real-time polymerase chain reaction in scalp biopsies from 40 AA patients (both AA lesions and non-lesional areas) and 40 healthy controls (HCs). The Severity of Alopecia Tool (SALT) score was used to assess AA severity. Patients were evaluated for signs of AA activity, including a positive hair pull test and dermoscopic features of black dots, broken hairs, and tapering hairs. Results. The gene expression of CD70 and CD27 was significantly higher in AA lesions than in non-lesional areas ( p < 0.001 for both) and HCs ( p = 0.004 , p = 0.014 , respectively). There were significant positive correlations between AA severity and gene expression of CD70 ( p < 0.001 ) and CD27 ( p = 0.030 ) in AA lesions. Significant associations were detected between signs of AA activity and lesional gene expression of CD70 and CD27. Additionally, CD70 and CD27 gene expression was significantly lower in non-lesional biopsies compared to HCs ( p < 0.001 ). Conclusion. Gene expression of CD70 and CD27 was increased in AA lesions and was associated with disease severity and activity. Thus, both molecules can be a predictor of AA severity and activity. Furthermore, the expression was reduced in non-lesional scalp areas. Thus, a lack of CD27 and CD70 expression may initially predispose to immunological dysregulation and the development of AA.

show abstract

Association of Rs231775 Genetic Variant of Cytotoxic T-lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case–Control Study

Cited by 7 publications

References 31 publications

Genetic predisposition of alopecia areata in jordanians: A case-control study

Genetic predisposition of alopecia areata in jordanians: A case-control study

Effect of PTPN22, FAS/FASL, IL2RA and CTLA4 genetic polymorphisms on the risk of developing alopecia areata: A systematic review of the literature and meta-analysis

Gene Expression of CD70 and CD27 Is Increased in Alopecia Areata Lesions and Associated with Disease Severity and Activity

Contact Info

Product

Resources

About