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...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-03-01
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| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/24/5/5007 |
| Summary: | 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. |
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| ISSN: | 1661-6596 1422-0067 |