scholarly journals Cytotoxic T-Lymphocyte Antigen-4 Single Nucleotide Polymorphisms Are Not Associated with Outcomes after Unrelated Donor Transplantation: A Center for International Blood and Marrow Transplant Research Analysis

2014 ◽  
Vol 20 (6) ◽  
pp. 900-903 ◽  
Author(s):  
Salyka Sengsayadeth ◽  
Tao Wang ◽  
Stephanie J. Lee ◽  
Michael D. Haagenson ◽  
Stephen Spellman ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
T Lymphocyte ◽  
Cytotoxic T Lymphocyte ◽  
Marrow Transplant ◽  
Unrelated Donor ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Lymphocyte Antigen ◽  
Blood And Marrow Transplant ◽  
Research Analysis

scholarly journals Single Nucleotide Polymorphisms of Cytotoxic T-lymphocyte Antigen 4 (CTLA-4) and Susceptibility to Chronic Viral Hepatitis B and C Infections

2018 ◽  
Vol 2 (1) ◽  
pp. 10-17 ◽  
Author(s):  
Moisés Enciso-Vargas ◽  
Bertha Ruíz-Madrigal ◽  
Zamira Helena Hernández-Nazara ◽  
Montserrat Maldonado-González
Keyword(s):  
Hepatitis C ◽  
Hepatitis B ◽  
Single Nucleotide Polymorphisms ◽  
Viral Hepatitis ◽  
T Lymphocyte ◽  
Cytotoxic T Lymphocyte ◽  
Hcv Infection ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Lymphocyte Antigen

The cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene is a negative regulator of T lymphocyte activation and proliferation. Single nucleotide polymorphisms (SNPs) occurring on the CTLA-4 gene can modify the ability to control the proliferation of T lymphocytes, thereby impacting the clearance of hepatitis B (HBV) and hepatitis C (HCV) virus infections. The -319C/T and +49A/G SNPs of CTLA-4 gene have been associated with autoimmune disorders and liver infections. Studies show that the +49G allele confers susceptibility to HBV and HCV infection in chronic disease (without cirrhosis), associates with the risk of chronic HCV infection in males, confers protective effect against the development of hepatocellular carcinoma, and favors viral elimination. Furthermore, the +49G allele alone or in haplotype with the -319C favors chronic infection with genotype 3 HCV; has an inverse association with HCV genotype 1; and decreases viral load in chronic hepatitis C associated with sustained viral response (SVR). These findings support an important role of the SNPs of CTLA-4 gene in viral hepatitis; however, the mechanisms by which they influence immune response against viral infections is not fully understood. This review gives an overview of the current understanding of the association between CTLA4 SNPs and HBV/HCV infections.

scholarly journals Correlation of TSHR and CTLA-4 Single Nucleotide Polymorphisms with Graves Disease

2019 ◽  
Vol 2019 ◽  
pp. 1-12 ◽  
Author(s):  
Weihua Sun ◽  
Xiaomei Zhang ◽  
Jing Wu ◽  
Wendi Zhao ◽  
Shuangxia Zhao ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
T Lymphocyte ◽  
Cytotoxic T Lymphocyte ◽  
Thyroid Stimulating Hormone ◽  
Taqman Probe ◽  
Graves Disease ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Han Population ◽  
Positive Correlations

This study was designed to explore the association between Graves disease (GD) and thyroid-stimulating hormone receptor (TSHR) and cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) single nucleotide polymorphisms (SNPs). We studied a total of 1217 subjects from a Han population in northern Anhui province in China. Six SNPs within TSHR (rs179247, rs12101261, rs2284722, rs4903964, rs2300525, and rs17111394) and four SNPs within CTLA-4 (rs10197319, rs231726, rs231804, and rs1024161) were genotyped via a Taqman probe technique using a Fluidigm EP1 platform. The TSHR alleles rs179247-G, rs12101261-C, and rs4903964-G were negatively correlated with GD, whereas the rs2284722-A and rs17111394-C alleles were positively correlated with GD. Analyzing TSHR SNPs at rs179247, rs2284722, rs12101261, and rs4903964 yielded 8 different haplotypes. There were positive correlations between GD risk and the haplotypes AGTA and AATA (OR=1.27, 95%CI=1.07‐1.50, P=0.005; OR=1.45, 95%CI=1.21‐1.75, P<0.001, respectively). There were negative correlations between GD risk and the haplotype GGCG (OR=0.56, 95%CI=0.46‐0.67, P<0.001). With respect to haplotypes based on SNPs at the TSHR rs2300525 and rs17111394 loci, the CC haplotype was positively correlated with GD risk (OR=1.32, 95%CI=1.08‐1.60, P=0.006). Analyzing CTLA-4 SNPs at rs231804, rs1024161, and rs231726 yielded four haplotypes, of which AAA was positively correlated with GD risk (OR=1.21, 95%CI=1.02‐1.43, P=0.029). Polymorphisms at rs179247, rs12101261, rs2284722, rs4903964, and rs17111394 were associated with GD susceptibility. Haplotypes of both TSHR and CTLA-4 were additionally related to GD risk.

scholarly journals Mapping MHC haplotype effects in unrelated donor hematopoietic cell transplantation

Blood ◽  
2013 ◽  
Vol 121 (10) ◽  
pp. 1896-1905 ◽  
Author(s):  
Effie W. Petersdorf ◽  
Mari Malkki ◽  
Mary M. Horowitz ◽  
Stephen R. Spellman ◽  
Michael D. Haagenson ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Graft Versus Host Disease ◽  
Hematopoietic Cell Transplantation ◽  
Unrelated Donor ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Graft Versus Host ◽  
Key Points ◽  
Mhc Haplotype ◽  
Hla Haplotypes

Key Points HLA haplotypes encode single nucleotide polymorphisms (SNPs) that are associated with risks after HLA-mismatched unrelated donor HCT. SNPs associated with graft-versus-host disease (GVHD) are independent of those associated with relapse.

scholarly journals Analysis of Relationships between Immune Checkpoint and Methylase Gene Polymorphisms and Outcomes after Unrelated Bone Marrow Transplantation

Cancers ◽  
2021 ◽  
Vol 13 (11) ◽  
pp. 2752
Author(s):  
Hidekazu Takahashi ◽  
Naoko Okayama ◽  
Natsu Yamaguchi ◽  
Moe Nomura ◽  
Yuta Miyahara ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Single Nucleotide Polymorphisms ◽  
Immune Checkpoint ◽  
Marrow Transplantation ◽  
Gene Polymorphisms ◽  
Unrelated Donor ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Unrelated Bone Marrow Transplantation

Unrelated bone marrow transplantation (uBMT) is performed to treat blood disorders, and it uses bone marrow from an unrelated donor as the transplant source. Although the importance of HLA matching in uBMT has been established, that of other genetic factors, such as single-nucleotide polymorphisms (SNPs), remains unclear. The application of immunoinhibitory receptors as anticancer drugs has recently been attracting attention. This prompted us to examine the importance of immunoinhibitory receptor SNPs in uBMT. We retrospectively genotyped five single-nucleotide polymorphisms (SNPs) in the immune checkpoint genes, BTLA, PD-1, LAG3, and CTLA4, and two SNPs in the methylase genes, DNMT1 and EZH2, in 999 uBMT donor–recipient pairs coordinated through the Japan Marrow Donor Program matched at least at HLA-A, -B, and -DRB1. No correlations were observed between these SNPs and post-uBMT outcomes (p > 0.005). This result questions the usefulness of these immune checkpoint gene polymorphisms for predicting post-BMT outcomes. However, the recipient EZH2 histone methyltransferase gene SNP, which encodes the D185H substitution, exhibited a low p-value in regression analysis of grade 2–4 acute graft-versus-host disease (p = 0.010). Due to a low minor allele frequency, this SNP warrants further investigation in a larger-scale study.

scholarly journals Polymorphisms in the cytotoxic T lymphocyte-associated protein-4 immune regulatory gene and their impact on inhibitor development in patients with hemophilia A

2019 ◽  
Vol 47 (10) ◽  
pp. 4981-4992
Author(s):  
Aveen M. Raouf Abdulqader ◽  
Ali Ibrahim Mohammed ◽  
Shwan Rachid
Keyword(s):  
T Lymphocyte ◽  
Hemophilia A ◽  
Fragment Length Polymorphism ◽  
Cytotoxic T Lymphocyte ◽  
Direct Sequencing ◽  
Regulatory Gene ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Inhibitor Development ◽  
The Impact

Objective The development of inhibitors against infused factor VIII represents the most severe complication of substitution therapy in hemophilia A (HA) patients. Data on risk factors for inhibitor formation in Iraqi Kurdish patients with HA are unavailable. This study aimed to evaluate the impact of two single nucleotide polymorphisms (SNPs) in an immune regulatory gene in the emergence of inhibitors. Methods We focused on 126 patients with either severe or mild/moderate HA presenting with and without inhibitors. We analyzed the frequency of two polymorphisms in the cytotoxic T lymphocyte-associated protein-4 gene ( CTLA-4; CTLA-4-318C > T and CTLA-4 + 49A > G). Genotyping was performed using restriction fragment length polymorphism–PCR and direct sequencing. Results We found no significant correlation between the CTLA-4-318 C > T T allele and inhibitor development among patients with severe or mild/moderate HA. However, a significantly high inhibitor risk was detected for the CTLA-4 + 49 A > G G allele (odds ratio [OR] = 3.1, 95% confidence interval [CI] = 1.383–7.024) and (OR = 4, 95% CI = 1.719–9.437) among patients with severe and mild/moderate HA, respectively. Conclusion We conclude that the CTLA-4 +49 A > G SNP plays a substantial role as a potential risk determinant for inhibitor formation in Iraqi Kurdish patients with HA.

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