Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study
This study aimed to assess the possible association between two single nucleotide polymorphisms (SNPs) of the autoimmune regulator (<i>AIRE</i>) gene (rs2075876 G/A and rs760426 A/G) with the risk of primary immune thrombocytopenia (ITP), as well as AIRE serum levels, in the Egyptian pop...
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MDPI AG
2023-03-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/24/5/5007 |
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| author | Muhammad T. Abdel Ghafar Ola A. Elshora Alzahraa A. Allam Raghda Gabr Mashaal Shereen Awny Abdelsalam Hamous Sarah Ragab Abd El-Khalik Rania Nagi Abd-Ellatif Reham A. Mariah Radwa Eissa Mai Mwafy Rasha E. Shalaby Elham Nasif Rasha A. Elkholy |
| author_facet | Muhammad T. Abdel Ghafar Ola A. Elshora Alzahraa A. Allam Raghda Gabr Mashaal Shereen Awny Abdelsalam Hamous Sarah Ragab Abd El-Khalik Rania Nagi Abd-Ellatif Reham A. Mariah Radwa Eissa Mai Mwafy Rasha E. Shalaby Elham Nasif Rasha A. Elkholy |
| author_sort | Muhammad T. Abdel Ghafar |
| collection | DOAJ |
| description | This study aimed to assess the possible association between two single nucleotide polymorphisms (SNPs) of the autoimmune regulator (<i>AIRE</i>) gene (rs2075876 G/A and rs760426 A/G) with the risk of primary immune thrombocytopenia (ITP), as well as AIRE serum levels, in the Egyptian population. In this case-control study, 96 cases with primary ITP and 100 healthy subjects were included. Two SNPs of the <i>AIRE</i> gene (rs2075876 G/A and rs760426 A/G) were genotyped via Taqman allele discrimination real-time polymerase chain reaction (PCR). Additionally, serum AIRE levels were measured using the enzyme-linked immunosorbent assay (ELISA) technique. After adjusting for age, gender, and family history of ITP, the <i>AIRE</i> rs2075876 AA genotype and A allele were associated with increased ITP risk (adjusted odds ratio (aOR): 4.299, <i>p</i> = 0.008; aOR: 1.847, <i>p</i> = 0.004, respectively). Furthermore, there was no significant association between <i>AIRE</i> rs760426 A/G different genetic models and ITP risk. A linkage disequilibrium revealed that A-A haplotypes were associated with an increased ITP risk (aOR: 1.821, <i>p</i> = 0.020). Serum AIRE levels were found to be significantly lower in the ITP group, positively correlated with platelet counts, and were even lower in the <i>AIRE</i> rs2075876 AA genotype and A allele, as well as A-G and A-A haplotype carriers (all <i>p</i> < 0.001). The <i>AIRE</i> rs2075876 genetic variants (AA genotype and A allele) and A-A haplotype are associated with an increased ITP risk in the Egyptian population and lower serum AIRE levels, whereas the SNP rs760426 A/G is not. |
| first_indexed | 2024-03-11T07:21:45Z |
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| language | English |
| last_indexed | 2024-03-11T07:21:45Z |
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| spelling | doaj.art-a1f71836c0f042f19ee2b7f1fb708c322023-11-17T07:56:29ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-03-01245500710.3390/ijms24055007Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control StudyMuhammad T. Abdel Ghafar0Ola A. Elshora1Alzahraa A. Allam2Raghda Gabr Mashaal3Shereen Awny Abdelsalam Hamous4Sarah Ragab Abd El-Khalik5Rania Nagi Abd-Ellatif6Reham A. Mariah7Radwa Eissa8Mai Mwafy9Rasha E. Shalaby10Elham Nasif11Rasha A. Elkholy12Department of Clinical Pathology, Faculty of Medicine, Tanta University, Tanta 31511, EgyptDepartment of Clinical Pathology, Faculty of Medicine, Tanta University, Tanta 31511, EgyptDepartment of Internal Medicine, Faculty of Medicine, Tanta University, Tanta 31511, EgyptDepartment of Internal Medicine, Faculty of Medicine, Tanta University, Tanta 31511, EgyptDepartment of Internal Medicine, Faculty of Medicine, Tanta University, Tanta 31511, EgyptDepartment of Medical Biochemistry, Faculty of Medicine, Tanta University, Tanta 31511, EgyptDepartment of Medical Biochemistry, Faculty of Medicine, Tanta University, Tanta 31511, EgyptDepartment of Medical Biochemistry, Faculty of Medicine, Tanta University, Tanta 31511, EgyptDepartment of Microbiology and Immunology, Faculty of Medicine, Tanta University, Tanta 31511, EgyptDepartment of Microbiology and Immunology, Faculty of Medicine, Tanta University, Tanta 31511, EgyptDepartment of Microbiology and Immunology, Faculty of Medicine, Tanta University, Tanta 31511, EgyptDepartment of Physiology, Faculty of Medicine, Tanta University, Tanta 31511, EgyptDepartment of Clinical Pathology, Faculty of Medicine, Tanta University, Tanta 31511, EgyptThis study aimed to assess the possible association between two single nucleotide polymorphisms (SNPs) of the autoimmune regulator (<i>AIRE</i>) gene (rs2075876 G/A and rs760426 A/G) with the risk of primary immune thrombocytopenia (ITP), as well as AIRE serum levels, in the Egyptian population. In this case-control study, 96 cases with primary ITP and 100 healthy subjects were included. Two SNPs of the <i>AIRE</i> gene (rs2075876 G/A and rs760426 A/G) were genotyped via Taqman allele discrimination real-time polymerase chain reaction (PCR). Additionally, serum AIRE levels were measured using the enzyme-linked immunosorbent assay (ELISA) technique. After adjusting for age, gender, and family history of ITP, the <i>AIRE</i> rs2075876 AA genotype and A allele were associated with increased ITP risk (adjusted odds ratio (aOR): 4.299, <i>p</i> = 0.008; aOR: 1.847, <i>p</i> = 0.004, respectively). Furthermore, there was no significant association between <i>AIRE</i> rs760426 A/G different genetic models and ITP risk. A linkage disequilibrium revealed that A-A haplotypes were associated with an increased ITP risk (aOR: 1.821, <i>p</i> = 0.020). Serum AIRE levels were found to be significantly lower in the ITP group, positively correlated with platelet counts, and were even lower in the <i>AIRE</i> rs2075876 AA genotype and A allele, as well as A-G and A-A haplotype carriers (all <i>p</i> < 0.001). The <i>AIRE</i> rs2075876 genetic variants (AA genotype and A allele) and A-A haplotype are associated with an increased ITP risk in the Egyptian population and lower serum AIRE levels, whereas the SNP rs760426 A/G is not.https://www.mdpi.com/1422-0067/24/5/5007immune thrombocytopenic purpuraautoimmune regulator genepolymorphismhaplotypesrisk |
| spellingShingle | Muhammad T. Abdel Ghafar Ola A. Elshora Alzahraa A. Allam Raghda Gabr Mashaal Shereen Awny Abdelsalam Hamous Sarah Ragab Abd El-Khalik Rania Nagi Abd-Ellatif Reham A. Mariah Radwa Eissa Mai Mwafy Rasha E. Shalaby Elham Nasif Rasha A. Elkholy Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study International Journal of Molecular Sciences immune thrombocytopenic purpura autoimmune regulator gene polymorphism haplotypes risk |
| title | Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study |
| title_full | Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study |
| title_fullStr | Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study |
| title_full_unstemmed | Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study |
| title_short | Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study |
| title_sort | autoimmune regulator gene polymorphisms and the risk of primary immune thrombocytopenic purpura a case control study |
| topic | immune thrombocytopenic purpura autoimmune regulator gene polymorphism haplotypes risk |
| url | https://www.mdpi.com/1422-0067/24/5/5007 |
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