scholarly journals HLA-DRB1 ∗ 16:01 and HLA-DQB1 ∗ 05:02 Alleles Influence the Susceptibility and Progression of Cutaneous Malignant Melanoma

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Xu Wang ◽  
Francisco Almazan ◽  
Yoel Genaro Montoyo-Pujol ◽  
Antonia Martin-Casares ◽  
Aurelio Martin ◽  
...  

Background. The influence of HLA class I and II loci on the susceptibility to melanoma remains an area of intense debate. This study aimed to examine whether the HLA system was related to melanoma susceptibility and prognosis in a southern Spanish population. Methods. In this study, HLA class I and class II genotyping were performed using polymerase chain reaction sequence-specific oligonucleotides (PCR-SSO) in 237 Spanish melanoma patients and 636 ethnically matched controls. Data were analyzed according to the clinical characteristics of the defined subgroups. Results. Compared to the control group, DRB1 ∗ 16:01 (4% vs. 1.3%, p = 0.001 , Pc = 0.035, OR = 3.28) and DQB1 ∗ 05:02 (4.9% vs. 2%, p = 0.001 , Pc = 0.017, OR = 2.54) were positivity associated with the susceptibility to melanoma. Both DRB1 ∗ 16:01 (5.4% vs. 1.3%, p = 0.001 , Pc = 0.035, OR = 4.46) and DQB1 ∗ 05:02 (6.5% vs. 2%, p = 0.001 , Pc = 0.017, OR = 3.44) also showed a positive correlation with Breslow thickness >1.5 mm, most notably at an early age of diagnosis (≤58 years), DRB1 ∗ 16:01 (4.2% vs. 1.3%, p = 0.001 , Pc = 0.035, OR = 3.41) and DQB1 ∗ 05:02 (5.4% vs. 2%, p = 0.002 , Pc = 0.034, OR = 2.86). Conclusion. These findings established HLA-DRB1 ∗ 16:01 and HLA-DQB1 ∗ 05:02 loci as melanoma risk factors in the southern Spanish population.

2011 ◽  
Vol 44 (5) ◽  
pp. 616-620 ◽  
Author(s):  
Danilo Santana Alessio Franceschi ◽  
Luiza Tamie Tsuneto ◽  
Priscila Saamara Mazini ◽  
William Sergio do Sacramento ◽  
Pâmela Guimarães Reis ◽  
...  

INTRODUCTION: The present study was designed to investigate a possible role of HLA (histocompatibility leucocyte antigen) class-I alleles (HLA-A, -B, and -C) in leprosy patients from Southern Brazil. METHODS: Two hundred and twenty-five patients with leprosy and 450 individuals for the control group were involved in this research. HLA genotyping was performed through PCR-SSO protocols (One Lambda, USA); the frequency of these alleles was calculated in each group by direct counting, and the frequencies were then compared. RESULTS: There was an association between HLA-A*11 (6.9% vs 4.1%, p=0.0345, OR=1.72, 95% CI=1.05-2.81), HLA-B*38 (2.7% vs. 1.1%, p=0.0402, OR=2.44, 95% CI=1.05-5.69), HLA-C*12 (9.4% vs. 5.4%, p=0.01, OR=1.82, 95% CI=1.17-2.82), and HLA-C*16 (3.1% vs. 6.5%, p=0.0124, OR=0.47, 95% CI=0.26-0.85) and leprosy per se. In addition, HLA-B*35, HLA-C*04, and HLA-C*07 frequencies were different between lepromatous (LL) and tuberculoid (TT) patients. However, after adjusting for the number of alleles compared, Pc values became nonsignificant. CONCLUSIONS: Although our results do not support the previous findings that HLA class-I alleles play a role in leprosy pathogenesis, we suggest new studies because of the importance of the association between the HLA and KIR in the innate immune response to leprosy.


2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 8029-8029
Author(s):  
H. Gogas ◽  
M. Spyropoulou-Vlachou ◽  
U. Dafni ◽  
D. Tsoutsos ◽  
C. Markopoulos ◽  
...  

8029 Background: Serological typing for both HLA class I and class II antigen expression, has previously shown association of specific HLA antigen expression with clinical response and survival in patients with metastatic melanoma treated with IL-2 (e.g. HLA-DQ1). Purpose: To evaluate the impact of HLA class I (low-resolution) and class II (high-resolution) expression, on the outcome of high-risk melanoma patients receiving adjuvant high-dose interferon. Methods: 181 stage IIB, IIC and III melanoma patients (88 female and 93 male), median age 52.1 years and 246 healthy controls were included in this study. DNA was used for the determination of HLA-A, HLA-B, HLA-Cw, HLA-DRB1 and HLA-DQB1 genotypes. Results: With a median follow-up of 37 months, 59 (group 1) patients have remained with no evidence of recurrence and 122 have recurred (group 2). Statistical significant differences between the two groups, were found in the following genotypes: HLA-A*02 (42% vs. 57.3%, p=0.08), HLA-A*33 (15.2% vs. 6.5%, p=0.05), HLA-B*51 (15.2% vs. 34.4%, p=0.01), HLA-B*57 (11.8% vs. 2.4%, p=0.02). Statistical significant differences between group 1 and healthy controls, were found in the following genotypes: HLA-A*33 (15.2% vs. 6.5%, p=0.05), HLA-B*51 (15.2% vs. 28.5%, p=0.05), HLA-B*57 (11.8% vs. 4.5%, p=0.05), HLA-Cw*03 (23.7% vs. 11%, p=0.01), HLA-Cw*06 (27.1% vs. 16.1%, p=0.06), HLA-DRB1*0701 (27.1% vs. 13.4%, p=0.01), HLA-DRB1*1601 (35.6% vs. 22.3%, p=0.01), HLA-DQB1*0202 (23.8% vs. 10.1%, p=0.09). Conclusions: Statistical significant differences were seen in HLA-A and HLA-B alleles between the patients with high-risk melanoma free of recurrence and those who recurred after treatment with adjuvant interferon. Additionally, differences were seen between healthy controls and melanoma patients free of recurrence. No significant financial relationships to disclose.


1998 ◽  
Vol 16 (4) ◽  
pp. 1430-1437 ◽  
Author(s):  
D S Hoon ◽  
T Okamoto ◽  
H J Wang ◽  
R Elashoff ◽  
A J Nizze ◽  
...  

PURPOSE An allogeneic polyvalent melanoma cell vaccine (PMCV) has been shown to be efficacious in improving overall survival of patients with malignant melanoma in a phase II clinical setting. The PMCV consists of three allogeneic melanoma cell lines. The objectives of the study were to determine (1) whether the survival of melanoma patients who received PMCV was related to the patient's human leukocyte antigen (HLA) class I phenotype matching the HLA class I phenotype of the PMCV, and (2) whether PMCV clinical efficacy was correlated to melanoma patients with a particular HLA phenotype(s). MATERIALS AND METHODS PMCV was given to 69 melanoma patients with American Joint Committee on Cancer (AJCC) stage I to IV disease status. The PMCV and patients lymphocytes were typed for HLA-A and -B. A correlation was made between the HLA expression of PMCV lines and the HLA of patients to their survival status. A second correlation was made between the HLA of patients and survival independent of the PMCV HLA phenotype. RESULTS Patients whose HLA phenotype (A3/11 and B7/44) matched the PMCV lines had a better overall survival (P < .029). Analysis of HLA expression of patients independent of PMCV HLA to survival showed that HLA-A25 phenotype patients had a significantly better overall survival (P = .006). HLA-B35 patients had a poorer survival outcome (P = .019). CONCLUSION The studies indicate that overall survival following PMCV treatment in melanoma patients significantly correlates with their HLA phenotypes. These correlations may be related to the host immune response to the PMCV or due to differences in the clinical course of melanoma in patients with different HLA types.


2012 ◽  
Vol 39 (5) ◽  
pp. 423-428 ◽  
Author(s):  
P. Portela ◽  
L. F. Jobim ◽  
P. H. Salim ◽  
W. J. Koff ◽  
T. J. Wilson ◽  
...  

Author(s):  
Stephen Ahn ◽  
Haeyoun Choi ◽  
In-Cheol Baek ◽  
Soon A. Park ◽  
Yeo Song Kim ◽  
...  

Purpose Immune responses for cancer cells can be altered according to genetic variation of human leukocyte antigen (HLA). Association of HLA polymorphism with risk of various cancer types is well known. However, the association between HLA and glioblastoma (GBM) remains uncertain. We sought to evaluate the association of HLA polymorphism with risk of GBM development in Koreans. Materials and Methods A case-control study was performed to identify the odds ratios (OR) of HLA class I and II genes for GBM. The control group consisted of 142 healthy Korean volunteers, and the GBM group was 80 patients with newly diagnosed GBM at our institution. HLA class I (-A, -B, and &ndash;C) and class II (-DR, -DQ, and &ndash;DP) genotyping was performed by high-resolution polymerase chain reaction (PCR)-sequence-based typing (PCR-SBT) methods. Results There were significantly decreased frequencies of HLA-A*26:02 (OR 0.22 CI 0.05-0.98), HLA-C*08:01 (OR 0.29 CI 0.10-0.87), and HLA-DRB1*08:03 (OR 0.32 CI 0.11-0.98), while there was significantly increased frequency of HLA-C*04:01 (OR 2.29 CI 1.05-4.97). In analysis of haplotypes, the frequency of DRB1*14:05-DQB1*05:03 was significantly decreased (OR 0.22 CI 0.05-0.98). Conclusion This study suggests that genetic variations of HLA may affect GBM development in Koreans. Further investigations with larger sample sizes are needed to delineate any potential role of the HLA polymorphisms in the pathogenesis of GBM development.


2014 ◽  
Vol 4 (1) ◽  
pp. 297-300
Author(s):  
Nidal Abdul Mohymen(Ph.D.) ◽  
Abdullah M. Qader (Ph.D.) ◽  
Ali H. Ad’hiah (Ph.D.)

Objectives: This study aimed to investigate the association between HLA alleles and visceral leishmaniasis (VL) in a sample of Iraqi patients. Methods: A total of 30 patients were studied, in addition to 20 age, gender and ethnicity matched controls. All subjects were genotyped by polymerase chain reaction-sequence specific primers (PCR-SSP) method. Results:  For HLA-class I region (A and B loci), only HLA-A*19 allele showed a significant (P = 0.031) decreased frequency in VL patients as compared with controls (13.3 vs. 45.0%), and such deviation was associated with OR and PF values of 0.19 and 0.37, respectively. At HLA-class II region, HLA-DRB1*03 and HLA-DQB1*02 alleles were significantly (P = 0.020 and 0.013, respectively) increased in VL patients (56.6 vs. 20% and 46.6 vs. 10%, respectively) as compared with controls. The OR of such two positive associations was 5.23 and 7.88, respectively, and the EF value was 0.46 and 0.41, respectively. In contrast, HLA-DRB1*02 (13.3 vs. 45.0%) and HLA-DQB1*03 (33.3 vs. 70.0%) were significantly (P = 0.031 and 0.023, respectively) decreased in patients. However, none of these differences remained significant after correcting the P value for the number of alleles tested at each locus. Conclusion: these preliminary data suggest that HLA alleles may have some role in aetiopathogenesis of VL, and this role can be in favour of susceptibility and/or protection.


2013 ◽  
Vol 74 (9) ◽  
pp. 1130-1133 ◽  
Author(s):  
Maria Regina Jobim ◽  
Mariana Jobim ◽  
Patrícia H. Salim ◽  
Pâmela Portela ◽  
Luiz Fernando Jobim ◽  
...  

2001 ◽  
Vol 57 (6) ◽  
pp. 508-519 ◽  
Author(s):  
R. Mendez ◽  
A. Serrano ◽  
E. Jäger ◽  
I. Maleno ◽  
F. Ruiz-Cabello ◽  
...  

2017 ◽  
Vol 23 (5) ◽  
pp. 476-481 ◽  
Author(s):  
Patricia Castro-Santos ◽  
Marco Antonio Moro-García ◽  
Raquel Marcos-Fernández ◽  
Rebeca Alonso-Arias ◽  
Roberto Díaz-Peña

Large genome-wide analysis studies (GWAS) and meta-analyses have dramatically increased our knowledge of the genetic risk factors of inflammatory bowel disease (IBD), identifying at least 163 loci. The endoplasmic reticulum aminopeptidase-2 ( ERAP2) gene has been reported as a potential candidate gene for IBD. GWAS have also shown the potential associations between ERAP single nucleotide polymorphisms (SNP) loci and susceptibility to several autoimmune diseases, and ERAP1 and ERAP2 polymorphisms are related to HLA class I-associated diseases, including ankylosing spondylitis and Behçet’s disease. Interestingly, these associations were confined to individuals carrying HLA class I-risk alleles. The aim of this study was to investigate the association of ERAP1 and ERAP2 SNPs with IBD in a Spanish population, analysing their possible interaction with specific HLA-C alleles to IBD susceptibility. A total of 367 individuals were divided into 216 IBD cases and 151 controls. SNP genotyping was performed using TaqMan® genotyping assays, whereas HLA-C typing was analysed by sequence-specific oligonucleotide probing. Herein, we report an association of the ERAP1 SNP rs30187 with the HLA-C*07 allele. The existence of shared inflammatory pathways in immunologically related diseases together with the understanding of ERAP1 function may offer clues to novel treatment strategies.


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