Association of AIRE (rs2075876), but not CTLA4 (rs231775) polymorphisms with systemic lupus erythematosus

Alghamdi, Saleh A.; Kattan, Shahad W.; Toraih, Eman A.; Alrowaili, Majed; Fawzy, Manal S.; Elshazli, Rami M.

doi:10.1016/j.gene.2020.145270

Cited by 9 publications

(6 citation statements)

References 52 publications

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“…Contrary to the Mexican study, a recent study involving Egyptian patients reported that AIRE rs2075876 variant seems protective against SLE development under the allelic and dominant models while patients with the AIRE rs2075876 AA genotype had statistically significant lower levels of C3 [ 27 ].…”

Section: Discussionmentioning

confidence: 96%

“…Several studies addressed AIRE gene polymorphisms in RA patients [19][20][21][22], and one study tackled it in patients with progressive systemic sclerosis (PSS) [34]. To the best of our knowledge, only two studies recently addressed AIRE SNPs in SLE patients [26,27].…”

Section: Discussionmentioning

confidence: 99%

“…We hypothesized that AIRE SNPs could be implicated in systemic autoimmunity [18] as AIRE dysfunction could influence organs of different natures and functions, i.e., the skin, endocrine glands, and liver [10][11][12][13][14][15][16][17]. To the best of knowledge, few studies involving AIRE polymorphisms in lupus patients were found to date in the literature [26,27].…”

Section: Introductionmentioning

confidence: 99%

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Autoimmune Regulator Gene Polymorphisms in Egyptian Systemic Lupus Erythematosus Patients: Preliminary Results

Attia

Dorgham

Maghraby

et al. 2021

International Journal of Rheumatology

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Background. Systemic lupus erythematosus (SLE) is a systemic autoimmune disease. The autoimmune regulator (AIRE) is a master regulator of self-tolerance development. AIRE mutations lead to the development of autoimmune polyglandular syndrome type 1 while AIRE polymorphisms have been linked to organ-specific autoimmunity. The study is aimed at addressing the association between AIRE polymorphisms, rs2075876 (G > A) and rs760426 (A > G), and SLE susceptibility and expression in Egyptian patients. Methods. Ninety-nine patients were included. One hundred and ten, and 123 control subjects were genotyped for rs2075876 and rs760426, respectively. Lupus severity was assessed using the Lupus Severity of Disease Index and Lupus Severity Index (LSI). Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) damage index was considered. Genotyping was done using StepOne Real-Time PCR. Results. AIRE rs760426 GG was more frequent in the patients under the genotype level (14.1% vs. 4.9%, p = 0.032 ) and recessive model (14.1% vs. 4.9%, p = 0.017 , OR = 3.2 (1.2-8.7)). Musculoskeletal involvement and nephritis were associated with AIRE rs2075876 under the dominant (97.9% vs. 80.8%, p = 0.009 , OR = 11 (1.3-89.2)) and recessive models (100% vs. 69.3%, p = 0.032 ), respectively; and both were linked to AIRE rs2075876 at the allelic level: 98.3% vs. 85%, p = 0.005 , OR = 10.1 (1.3-76.6) and 82.8% vs. 68.6, p = 0.041 , OR = 2.2 (1-4.7), respectively. Patients with AIRE rs2075876 A alleles had a higher damage index ( 1 ± 1.3 vs. 0.6 ± 1.1, p = 0.045 ) while the LSI was greater in patients with AIRE rs2075876 (8.5 ± 0.5 vs. 7.8 ± 1.3, p = 0.002 ) and rs760426 (8.6 ± 11 vs. 7.8 ± 1.2, p = 0.031 ) under the recessive models. Conclusion. AIRE rs760426 could share in SLE susceptibility while AIRE rs2075876 could influence the disease expression and burden in Egyptian patients.

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Autoimmune Regulator Gene Polymorphisms in Egyptian Systemic Lupus Erythematosus Patients: Preliminary Results

Attia

Dorgham

Maghraby

et al. 2021

International Journal of Rheumatology

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“…The estimation of Hardy-Weinberg equilibrium (HWE) among NS patients and healthy subjects was carried out as formerly mentioned. [29] Genetic association models including codominant, dominant, and recessive, were used in the estimation of crude odd ratio (OR) and their 95% confidence interval (CI) of the study population. [30] Additionally, the continuous parameters have been examined for the likelihood for normal distribution utilizing the Kolmogorov-Smirnov assay, while the categorical parameters were estimated using the χ 2 statistic method and displayed as numbers with percentages.…”

Section: Discussionmentioning

confidence: 99%

Genetic variant in the 5ʹ untranslated region of endothelin1 (EDN1) gene in children with primary nephrotic syndrome

Yahia

Hammad

El‐Gilany

et al. 2021

J Biochem & Molecular Tox

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Endothelin-1 plays a crucial role in the pathophysiology of nephrotic syndrome (NS) in children. The primary purpose of this study is to evaluate the contribution of the EDN1 (3A/4A; rs1800997) variant to the risk of nephrotic syndrome. This study involves 200 participants (100 healthy controls, 50 steroid-sensitive nephrotic syndromes [SSNS] patients, and 50 steroid-resistant nephrotic syndromes [SRNS]

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“…[1] Among them, genetic factors have been considered to contribute to the development and progression of SLE. [2] Recent studies on the human genome-wide association studies (GWAS) suggest that single nucleotide polymorphisms (SNPs) in protein-coding genes are signi cantly associated with SLE related organ damage. [3] Studies on twins and families also indicate that genetic susceptibility has a higher heritability and consistency rate in SLE families compared with sporadic populations.…”

Section: Introductionmentioning

confidence: 99%

Genetic Association of rs15672 and rs12640056 Polymorphisms with the Susceptibility of Systemic Lupus Erythematosus in a Chinese Population

Zhang

Zhai

Zhang

et al. 2021

Preprint

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In this study, we aimed to investigate the relationship of IKBKE rs15672 and BANK1 rs12640056 gene polymorphisms with systemic lupus erythematosus (SLE) susceptibility in China. A case-control study was performed on 567 SLE patients and 345 healthy controls. Six single nucleotide polymorphisms (rs15672, rs2296164, rs12640056, rs6842661, rs1957106 and rs2274064) and clinical features were analyzed. Genotyping was executed with improved multiplex ligation detection reaction assay. SNP rs15672 increased the risk (P = 0.028, OR = 1.25, 95%CI = 1.02–1.52) but rs12640056 decreased the risk of SLE (P = 0.015, OR = 0.78, 95%CI = 0.64–0.95). For rs15672, patients carrying allele A assumed high-level IL-6 (25.36 ± 4.64 vs 16.56 ± 2.95, P = 0.036) and IL-4 (12.06 ± 4.51 vs 4.88 ± 1.76, P = 0.047), but low-level granzyme B (14.07 ± 1.86 vs 18.38 ± 3.85, P = 0.023), IL-18 (267.39 ± 14.67 vs 348.57 ± 44.25, P = 0.002) and IL-33 (0.91 ± 0.26 vs 2.19 ± 1.35, P = 0.029). Organ injury showed that mutant genotype at rs15672 had high-prevalence of arthritis (32.02%) and serositis (34.78%), but low in neuropathy (9.09%). For rs12640056, patients carrying allele T assumed low-level IL-33 (0.46 ± 0.17 vs 2.16 ± 1.00, P = 0.009). In conclusion, gene polymorphisms of rs15672 and rs12640056 present relevant with susceptibility of SLE, and affect the expression of cytokine and organ injury.

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Association of AIRE (rs2075876), but not CTLA4 (rs231775) polymorphisms with systemic lupus erythematosus

Cited by 9 publications

References 52 publications

Autoimmune Regulator Gene Polymorphisms in Egyptian Systemic Lupus Erythematosus Patients: Preliminary Results

Autoimmune Regulator Gene Polymorphisms in Egyptian Systemic Lupus Erythematosus Patients: Preliminary Results

Genetic variant in the 5ʹ untranslated region of endothelin1 (EDN1) gene in children with primary nephrotic syndrome

Genetic Association of rs15672 and rs12640056 Polymorphisms with the Susceptibility of Systemic Lupus Erythematosus in a Chinese Population

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