Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case–control Study

Toraih, Eman A.; Ameen, Hatem Mohamed; Hussein, Mohammad; Elabd, Ahmed A. Youssef; Mohamed, Abeer M; Abdel-Gawad, Abdelhady Ragab; Fawzy, Manal S.

doi:10.1080/08820139.2019.1671450

Cited by 10 publications

(10 citation statements)

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“…The genotype and allele frequencies and Hardy-Weinberg equilibrium (HWE) were calculated [18]. The associations of the genotypes and susceptibility to urticaria disease were estimated by computing odds ratios (ORs) and their 95% con dence intervals (CIs) from binary logistic regression analysis (Enter method) after adjustment for possible confounders.…”

Section: Discussionmentioning

confidence: 99%

Interleukin 17 Receptor a Haplotype Analysis in Chronic Spontaneous Urticaria

Nada

Hassan

Ibrahim

et al. 2020

Preprint

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Background: Chronic spontaneous urticaria (CSU) is a distressing skin disease. Family clustering and heterogeneity in the onset and progression indicate that susceptibility to CSU is a complex trait. In this study, we performed haplotype analysis for one of the key player gene, IL17RA, for CSU to test the association with disease susceptibility and severity.MethodsThe study included 70 CSU patients and 30 healthy controls. The severity of the disease was evaluated by autologous serum skin test (ASST) and urticaria activity score (UAS). ASST test was done and quality of life was assessed using a questionnaire. Allelic discrimination analysis for rs4819554 and rs879577 was performed using Real-Time Polymerase Chain Reaction technology.Results: Carriers of rs4819554*G were more prone to develop CSU than its counterpart (p = 0.039), while rs4819554*A allele displayed more severe phenotype in the form of more prolonged disease duration (p = 0.040), concurrent angioedema (p < 0.001), higher level of treatment (p < 0.001), and higher score of quality of life (p < 0.001). Additionally, homozygote patients with rs879577*CC were associated with angioedema (p < 0.001). Haplotype analysis revealed that cohorts with both rs4819554*A and rs879577*T conferred protection against developing CSU (OR = 0.07, 95%CI = 0.01 - 0.32, p = 0.001).Conclusions: Our results showed that IL17RA gene polymorphisms might contribute to the increased susceptibility to CSU.

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Section: Discussionmentioning

confidence: 99%

Interleukin 17 Receptor a Haplotype Analysis in Chronic Spontaneous Urticaria

Nada

Hassan

Ibrahim

et al. 2020

Preprint

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“…PCRs were run in a total volume of 20 µL containing genomic DNA (20 ng) with nuclease‐free water up to 9 µL, TaqMan SNP Genotyping Assay Mix (1 µL) (Applied Biosystems, assay ID C__15863141_20), TaqMan Genotyping PCR Master Mix (10‐µL). The thermocycler conditions were followed: denaturation at 95°C for 10 minutes, followed by 40 cycles of 90°C for 15 seconds and 60°C for 1 minutes 25 . Genotyping was conducted blind to the case/control status.…”

Section: Methodsmentioning

confidence: 99%

“…Genomic DNA was extracted from the buffy coat using QIAamp The thermocycler conditions were followed: denaturation at 95°C for 10 minutes, followed by 40 cycles of 90°C for 15 seconds and 60°C for 1 minutes. 25 Genotyping was conducted blind to the case/control status. Ten percent of the samples were randomly selected and regenotyped with 100% reproducibility in genotyping recall ( Figure 2).…”

Section: Allelic Discrimination Of Rs2075876 G/a Variantmentioning

confidence: 99%

“…Several AIRE variants were previously shown to be associated with many autoimmune diseases, 13,13,13,13 including rheumatoid TA B L E 2 Association between clinicopathological characteristics of BC patients and AIRE rs2075876 G>A variant homozygous genotypes arthritis, 18,40 vitiligo, 41 systemic sclerosis, 42 Addison disease, 43 systemic lupus erythematosus, 44 and alopecia areata. 25 However, a limited number of association studies for rs2075876 G>A polymorphism were identified. 25,40,[45][46][47] Furthermore, no previous study explored the relationship of the specified study variant with the BC.…”

Section: Kegg (Kyoto Encyclopedia Of Genes and Genomes) Enrichmentmentioning

confidence: 99%

“…25 However, a limited number of association studies for rs2075876 G>A polymorphism were identified. 25,40,[45][46][47] Furthermore, no previous study explored the relationship of the specified study variant with the BC.…”

Section: Kegg (Kyoto Encyclopedia Of Genes and Genomes) Enrichmentmentioning

confidence: 99%

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Analysis of the autoimmune regulator (AIRE) gene variant rs2075876 (G/A) association with breast cancer susceptibility

Fawzy

Toraih

2020

Clinical Laboratory Analysis

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Background Recently, unexpected autoimmune regulator (AIRE) implication in the scenario of several cancers, including breast cancer (BC), has emerged. This study aims to explore for the first time the possible association between AIRE gene rs2075876 G>A variant and BC risk in a sample of the Middle East population. Method In this case‐control study, we genotyped AIRE rs2075876 G>A variant in 200 unrelated patients with BC and 340 cancer‐free controls using a real‐time allelic discrimination polymerase chain reaction. Odds ratios (ORs) and 95% confidence intervals (CIs) were applied to estimate the strength of association under several genetic models. In silico analysis of AIRE was also executed. Results The minor allele (A) frequency of the specified variant accounted for 0.28 in the controls. G/G homozygote was significantly more frequent among patients (94%) compared to controls (66%) (P < .001). After adjusting confounding variables, individuals with A allele conferred protection against developing BC under allelic model (OR = 0.33, 95% CI = 0.20‐0.55), recessive model (OR = 0.25, 95% CI = 0.10‐0.60), dominant model (OR = 0.12, 95% CI = 0.05‐0.29), and homozygote comparison (OR = 0.20, 95% CI = 0.08‐0.50). In silico analysis revealed AIRE enrichment in several cancer‐related pathways. Kaplan‐Meier plotter for the cancer databases showed association of AIRE expression with prognosis in triple‐negative BC (HR = 2.44, 95% CI = 1.44‐4.15, log‐rank P‐value < .001). Conclusion The AIRE rs2075876 G>A variant showed association with BC risk in the study population. Further large‐scale replication studies in different ethnicity are warranted to confirm the findings.

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