Blood Res.  2022 Sep;57(3):229-234. 10.5045/br.2022.2022057.

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

• Ellithy HN
• Yousry SM
• Abdel-Aal A
• Tawadros L
• Momen N

• KMID: 2533251
• DOI: http://doi.org/10.5045/br.2022.2022057

Abstract

Background
The pathophysiology underlying primary adult immune thrombocytopenic purpura (ITP) has not yet been identified. However, many mechanisms affect the immune system, causing defective tolerance to self-platelets and megakaryocytes. Cluster of differentiation 40 (CD40) contributes to both humoral and cell-mediated immune responses.
Methods
This case‒control study was conducted to detect rs4810485G＞T and rs1883832C＞T polymorphisms of CD40 in Egyptian patients with persistent/chronic ITP to clarify their possible association with chronic disease evolution. This study included 50 patients with persistent/chronic ITP and 50 healthy controls. Genotyping was performed using the polymerase chain reaction‒restriction fragment length polymorphism technique.
Results
Genotyping of rs1883832 and rs4810485 revealed no statistically significant differences between the two groups. However, combined gene polymorphism genotyping showed a statistically significant difference between the two groups (P ＜0.01).
Conclusion
Our results indicate a strong association between the combined polymorphism of both genes and susceptibility to developing ITP among adult Egyptian patients. Targeting this pathway using novel therapeutic approaches is promising.

Keyword

CD40; rs1883832; rs4810485; Polymorphism; Chronic ITP

Figure

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  Fig. 1 Agarose gel electrophoresis of the rs1883832 gene PCR products. Enzyme digestion products of rs1883832 using NcoI restriction enzyme showing the following: Lane 6: Wild GG genotype showing one band at 503 bp. Lanes 2, 3, 4, 7, 8, 9, and 10: Heterozygous AG genotype showing three bands at 503 bp, 130 bp, and 373 bp, respectively. Lanes 1 and 5: Homozygous AA genotype showing two bands at 130 bp and 373 bp, respectively. Abbreviation: M, DNA marker.

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  Fig. 2 Agarose gel electrophoresis of the rs4810485 gene PCR products. The enzyme digestion products of rs4810485 using MspI restriction enzyme showing the following: Lane 2: Wild GG genotype showing one band at 288 bp. Lanes 1, 3, 5, 6, 7, 8, and 9: Homozygous TT genotype showing two bands at 104 bp and 184 bp, respectively. Lanes 4 and 10: Heterozygous GT genotype showing three bands at 288 bp, 104 bp, and 184 bp, respectively. Abbreviation: M, DNA marker.

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