SitemapContact Us
닫기
Search
Advanced Search +
닫기
Quick links
Most Cited Most Read Ahead of Print Archives Go to E-submission

Original Article

Split Viewer

Blood Res 2022; 57(3):

Published online September 30, 2022

https://doi.org/10.5045/br.2022.2022057

© The Korean Society of Hematology

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

Hend Nabil Ellithy1, Sherif Mohamed Yousry2, Asmaa Abdel-Aal2, Lelian Tawadros2, Nouran Momen2

Author Info. +

1Clinical Hematology Unit-Internal Medicine Department, 2Clinical and Chemical Pathology Department, Kasr Al Ainy Faculty of Medicine, Cairo University, Cairo, Egypt

Correspondence to : Hend Nabil Ellithy, M.D.
Clinical Hematology Unit-Internal Medicine Department, Kasr Al Ainy Faculty of Medicine, Cairo University, Cairo 4240310, Egypt
E-mail: hend.allithy@kasraliny.edu.eg

Received: March 4, 2022; Revised: April 15, 2022; Accepted: July 28, 2022

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Go to

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.

Keywords CD40, rs1883832, rs4810485, Polymorphism, Chronic ITP

Article

Original Article

Blood Res 2022; 57(3): 229-234

Published online September 30, 2022 https://doi.org/10.5045/br.2022.2022057

Copyright © The Korean Society of Hematology.

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

Hend Nabil Ellithy1, Sherif Mohamed Yousry2, Asmaa Abdel-Aal2, Lelian Tawadros2, Nouran Momen2

1Clinical Hematology Unit-Internal Medicine Department, 2Clinical and Chemical Pathology Department, Kasr Al Ainy Faculty of Medicine, Cairo University, Cairo, Egypt

Correspondence to:Hend Nabil Ellithy, M.D.
Clinical Hematology Unit-Internal Medicine Department, Kasr Al Ainy Faculty of Medicine, Cairo University, Cairo 4240310, Egypt
E-mail: hend.allithy@kasraliny.edu.eg

Received: March 4, 2022; Revised: April 15, 2022; Accepted: July 28, 2022

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: CD40, rs1883832, rs4810485, Polymorphism, Chronic ITP

Fig 1.

Download
Figure 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.
Blood Research 2022; 57: 229-234https://doi.org/10.5045/br.2022.2022057

Fig 2.

Download
Figure 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.
Blood Research 2022; 57: 229-234https://doi.org/10.5045/br.2022.2022057

Table 1 . Clinical and laboratory data of 50 patients with ITP..

Variable Value (N=50)
Sex, N (%)
Male5 (10%)
Female45 (90%)
Age at sampling, years
Mean±SD, range30.6±11.12 (14–60)
Platelets at sampling ×109/L, N (%)
Platelet count <20×109/L36 (72%)
Platelet count >20×109/L14 (28%)
Bleeding tendency at time of initial diagnosis, N (%)
No bleeding0 (0%)
Skin bleeding43 (86%)
Mucosal bleeding31 (62%)
GIT or GUT bleeding40 (80%)
Disease state at sampling, N (%)
Activity50 (100%)
Remission0 (0%)
Disease severity at sampling, N (%)
Bleeder4 (8%)
Non-bleeder46 (92%)
Treatment regimen, N (%)
No treatment (under observation)0 (0%)
Corticosteroids (alone or in combination)50 (100%)
Azathioprine (in different combinations)30 (60%)
TPO-RA4 (8%)
Splenectomy0 (0%)
Treatment response, N (%)
Complete response35 (70%)
Response14 (28%)
No response1 (2%)
Refractory0 (0%)

Table 2 . Comparison between patients with persistent/chronic ITP and the control group regarding combined gene polymorphism..

ItemITP group (N=50)Control group (N=50)P
Combined rs1883832 (C>T) and rs4810485 (G>T) gene polymorphism
CC-GG4 (8%)0 (0%)<0.001a)
TT-TT22 (44%)14 (28%)
CT-GT24 (48%)8 (16%)
TT-GG0 (0%)0 (0%)
CC-GT0 (0%)2 (4%)
TT-GT0 (0%)6 (12%)
CC-TT0 (0%)0 (0%)
CT-TT0 (0%)16 (32%)
CT-GG0 (0%)2 (4%)

a)P-values of <0.001 were considered highly statistically significant..

Table 3 . Comparison between completely responsive, responsive, and nonresponsive patients with ITP regarding rs4810485 (G>T) and rs1883832 (C>T) gene polymorphisms..

ItemCompletely responsiveResponsiveNonresponsiveP
rs4810485 (G>T) gene polymorphism, N (%)
rs4810485 gene polymorphism, N (%)
Wild GG genotype3 (75%)1 (25%)0 (0%)0.439
Heterozygous GT genotype15 (62.5%)9 (37.5)0 (0%)
Homozygous TT genotype17 (77.3%)4 (18.2%)1 (4.5%)
G allele21 (55.3%)11 (73.3%)0 (0%)0.230
T allele49 (94.2%)17 (94.4%)2 (100%)0.941
rs1883832 (C>T) gene polymorphism, N (%)
gene polymorphism, N (%)
Wild CC genotype3 (75%)1 (25%)0 (0%)0.439
Heterozygous CT genotype15 (62.5%)9 (37.5)0 (0%)
Homozygous TT genotype17 (77.3%)4 (18.2%)1 (4.5%)
C allele21 (55.3%)11 (73.3%)0 (0%)0.230
T allele49 (94.2%)17 (94.4%)2 (100%)0.941

Blood Res
Volume 59 2024
Current Issue Archives

Stats or Metrics

Share this article on

  • line

Related articles in BR

Blood Research

pISSN 2287-979X
eISSN 2288-0011
qr-code Download