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5 records shown · first 60Polymorphism Analysis as Biomarker in Genes AIRE, CD40, HLA-DRB1 and TRAF1/C5 SNPs in Rheumatoid Arthritis Patients.
PMID 40696799 | DOI 10.1111/iji.70007 · International journal of immunogenetics · 2025 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2075876 | “The main objective of the study was to determine the association of genes AIRE (rs2075876), CD40 (rs4810485), HLA-DRB1 (rs6457617) and TRAF1/C5 (rs10818488) polymorphisms with rheumatoid arthritis (RA) from the population of Pakistan.” | 0.90 | hgvs_regex_v1 |
| gene | AIRE | “Polymorphism Analysis as Biomarker in Genes AIRE, CD40, HLA-DRB1 and TRAF1/C5 SNPs in Rheumatoid Arthritis Patients.” | 0.98 | hgnc_dict_v1 |
| gene | CD40 | “Polymorphism Analysis as Biomarker in Genes AIRE, CD40, HLA-DRB1 and TRAF1/C5 SNPs in Rheumatoid Arthritis Patients.” | 0.98 | hgnc_dict_v1 |
| gene | HLA-DRB1 | “Polymorphism Analysis as Biomarker in Genes AIRE, CD40, HLA-DRB1 and TRAF1/C5 SNPs in Rheumatoid Arthritis Patients.” | 0.98 | hgnc_dict_v1 |
Association of AIRE (rs2075876), but not CTLA4 (rs231775) polymorphisms with systemic lupus erythematosus.
PMID 33122082 | DOI 10.1016/j.gene.2020.145270 · Gene · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2075876 | “Association of AIRE (rs2075876), but not CTLA4 (rs231775) polymorphisms with systemic lupus erythematosus.” | 0.90 | hgvs_regex_v1 |
| gene | AIRE | “Association of AIRE (rs2075876), but not CTLA4 (rs231775) polymorphisms with systemic lupus erythematosus.” | 0.98 | hgnc_dict_v1 |
| gene | CTLA4 | “Association of AIRE (rs2075876), but not CTLA4 (rs231775) polymorphisms with systemic lupus erythematosus.” | 0.98 | hgnc_dict_v1 |
| phenotype | systemic lupus erythematosus | “Association of AIRE (rs2075876), but not CTLA4 (rs231775) polymorphisms with systemic lupus erythematosus.” | 0.98 | phenotype_alias_lexicon_v2 |
Association of autoimmune regulator gene polymorphism with susceptibility to rheumatoid arthritis in Egyptian population.
PMID 32399858 | DOI 10.1007/s12026-020-09127-7 · Immunologic research · 2020 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2075876 | “This study aimed to investigate the association of two selected SNPs, namely, rs760426 and rs2075876, with RA susceptibility in the Suez Canal Zone population.” | 0.90 | hgvs_regex_v1 |
| gene | AIRE | “The autoimmune regulator (AIRE) gene controls autoimmunity via its transcript AIRE protein that suppresses naïve T cells during central selection.” | 0.98 | hgnc_dict_v1 |
| phenotype | rheumatoid arthritis | “Association of autoimmune regulator gene polymorphism with susceptibility to rheumatoid arthritis in Egyptian population.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs760426 | “This study aimed to investigate the association of two selected SNPs, namely, rs760426 and rs2075876, with RA susceptibility in the Suez Canal Zone population.” | 0.90 | hgvs_regex_v1 |
Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case-control Study.
PMID 31601134 | DOI 10.1080/08820139.2019.1671450 · Immunological investigations · 2020 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | Rs2075876 | “Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case-control Study.” | 0.90 | hgvs_regex_v1 |
| gene | AIRE | “The autoimmune regulator (AIRE) gene is believed to be an important driver in AA pathogenesis.” | 0.98 | hgnc_dict_v1 |
| phenotype | rheumatoid arthritis | “In conclusion, the intronic variant (rs2075876) is suggested to be a potent susceptibility variant for AA development in the studied population.Abbreviations: AA: Alopecia areata; AIRE: Autoimmune Regulator; APECED: Autoimmune, Polyendocrinopathy Candidiasis Ectodermal Dystrophy; DLQI: Dermatology life quality index questionnaire; MIQE: Minimum information for publication of quantitative real-time PCR experiments; mTEC: Medullary thymic epithelial cells; PHD: Plant homeodomain; qRT-PCR: Quantitative reversetranscription-polymerase chain reaction; RA: Rheumatoid arthritis.” | 0.98 | phenotype_alias_lexicon_v2 |
Analysis of the autoimmune regulator (AIRE) gene variant rs2075876 (G/A) association with breast cancer susceptibility.
PMID 32426878 | PMCID PMC7521301 | DOI 10.1002/jcla.23365 · Journal of clinical laboratory analysis · 2020 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2075876 | “Analysis of the autoimmune regulator (AIRE) gene variant rs2075876 (G/A) association with breast cancer susceptibility.” | 0.90 | hgvs_regex_v1 |
| gene | AIRE | “Analysis of the autoimmune regulator (AIRE) gene variant rs2075876 (G/A) association with breast cancer susceptibility.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Analysis of the autoimmune regulator (AIRE) gene variant rs2075876 (G/A) association with breast cancer susceptibility.” | 0.98 | phenotype_alias_lexicon_v2 |