Association of CD40 gene polymorphisms and immune thrombocytopenic purpura in the adult Egyptian population

Ellithy, Hend N.; Yousry, Sherif M.; Abdelaal, Amaal; Tawadros, Lelian; Momen, Nouran

doi:10.5045/br.2022.2022057

Cited by 4 publications

(1 citation statement)

References 11 publications

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“… 79 Similar findings were obtained by Ellithy et al, who found that carriers of combined gene polymorphisms CD40 rs1883832 and CD40 rs4810485 have a higher risk of developing cITP. 80 …”

Section: Polymorphisms In Genes Regulating T-cell Activitymentioning

confidence: 99%

Deciphering the genetic basis of immune thrombocytopenia: current evidence for genetic predisposition in adult ITP

et al. 2023

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Immune thrombocytopenia (ITP) is the consequence of a complex, still not completely understood immunological dysregulation. Proposed mechanisms include autoantibody-induced platelet destruction, impaired platelet production as well as abnormalities in T-cell immunity, such as Th1 polarization, a high proportion of Th17 cells and a reduced number of regulatory T cells. Although the etiology of ITP is incompletely understood and considered multifactorial in most cases, genetic variants are thought to play a key role in susceptibility to ITP, especially in persistent or chronic ITP. Efforts are currently underway to uncover possible predisposing genetic factors for the development of ITP. Single nucleotide polymorphisms and copy number variations have been identified in several immune-related genes, such as cytokine genes, Fc gamma receptor genes or T-cell co-stimulation genes, and have been associated with patients' susceptibility to ITP. However, due to the clinical heterogeneity and low incidence of ITP it remains challenging to perform genetic analyses with sufficiently large sample size within informative patient populations, highlighting the need for collection of well annotated biomaterials in clinical trials or registry projects. Another significant challenge is to go beyond performing association studies alone and to establish genotype-phenotype associations, thus proving causality between a genetic alteration and ITP pathogenesis. This review summarizes our current knowledge on genetic alterations identified as potential predisposing factors for the development of ITP in adults, thereby addressing signaling pathways considered critical for ITP pathogenesis.

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“… 79 Similar findings were obtained by Ellithy et al, who found that carriers of combined gene polymorphisms CD40 rs1883832 and CD40 rs4810485 have a higher risk of developing cITP. 80 …”

Section: Polymorphisms In Genes Regulating T-cell Activitymentioning

confidence: 99%

Deciphering the genetic basis of immune thrombocytopenia: current evidence for genetic predisposition in adult ITP

et al. 2023

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Multi-omics Insights Into Autoimmune Thrombocytopenic Purpura

Kiumarsi

2024

Comprehensive Hematology and Stem Cell Research

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Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study

Ghafar

Elshora

Allam

et al. 2023

IJMS

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This study aimed to assess the possible association between two single nucleotide polymorphisms (SNPs) of the autoimmune regulator (AIRE) 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 AIRE 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 AIRE rs2075876 AA genotype and A allele were associated with increased ITP risk (adjusted odds ratio (aOR): 4.299, p = 0.008; aOR: 1.847, p = 0.004, respectively). Furthermore, there was no significant association between AIRE 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, p = 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 AIRE rs2075876 AA genotype and A allele, as well as A-G and A-A haplotype carriers (all p < 0.001). The AIRE 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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Association of CD40 gene polymorphisms and immune thrombocytopenic purpura in the adult Egyptian population

Cited by 4 publications

References 11 publications

Deciphering the genetic basis of immune thrombocytopenia: current evidence for genetic predisposition in adult ITP

Deciphering the genetic basis of immune thrombocytopenia: current evidence for genetic predisposition in adult ITP

Multi-omics Insights Into Autoimmune Thrombocytopenic Purpura

Autoimmune Regulator Gene Polymorphisms and the Risk of Primary Immune Thrombocytopenic Purpura: A Case-Control Study

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