HLA-G, -A haplotypes in Amerindians (Ecuador): HLA-G*01:05N World distribution

Arnaiz‐Villena, Antonio; Palacio-Grüber, José; Salamanca, Mercedes Enriquez de; Juárez, Ignacio; Campos, Cristina; Nieto, Jorge Martínez-Pinna; Muñiz, Ester; Martin-Villa, José Manuel

doi:10.1016/j.humimm.2017.12.002

Cited by 5 publications

(7 citation statements)

References 11 publications

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“…The HLA polymorphism has been deeply studied across populations, however, most studies focused on HLA‐A, HLA‐B , and HLA‐DRB1 as their implication for transplantation outcome has been known for longer. The diversity of non‐classical HLA genes and of genes that encode the alpha chain of the classical class II molecules is poorly known across populations, despite the growing evidence of their impact in disease and transplantation . Even scarcer are the studies that describe the classical and non‐classical genes in a single population sample.…”

Section: Introductionmentioning

confidence: 99%

“…The diversity of non-classical HLA genes and of genes that encode the alpha chain of the classical class II molecules is poorly known across populations, despite the growing evidence of their impact in disease and transplantation. [20][21][22][23][24][25][26][27][28] Even scarcer are the studies that describe the classical and non-classical genes in a single population sample.…”

Section: Introductionmentioning

confidence: 99%

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High‐resolution characterization of 12 classical and non‐classical HLA loci in Southern Brazilians

Castro

Issler

Gelmini

et al. 2019

HLA

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The human leukocyte antigen (HLA) are the most polymorphic genes in the human genome. Because of their importance for antigen recognition, HLA molecules play a central role in host defense and graft rejection upon transplantation. The aim of this study was to characterize allelic diversity of the classical HLA genes HLA‐A, ‐B, ‐C, ‐DRA, ‐DRB1, ‐DQA1, ‐DQB1, ‐DPA1, ‐DPB1, and the non‐classical class I genes HLA‐E, ‐F and ‐G at high‐resolution for a population of predominantly European ancestry from Curitiba, Brazil. Genotyping of 108 individuals was performed by next‐generation sequencing on the MiSeq platform and also by Sanger sequencing. The genotype distributions of all loci were in accordance with Hardy‐Weinberg equilibrium (P > 0.05) and a total of 202 HLA variants at second field resolution were observed for the 12 loci. The strongest linkage disequilibrium (r2 = 1.0, P < 10−5) was observed for the following pairs of alleles: HLA‐B*42:01:01 ~ HLA‐DRB1*03:02:01; HLA‐B*14:02:01 ~ HLA‐C*08:02:01; B*42:01:01 ~ HLA‐C*17:01:01; HLA‐DRB1*03:01:01 ~ HLA‐DQB1*02:01:01 ~ DRB1*03:01:01 ~ HLA‐DQB1*02:01:01; DRB1*13:01:01~ HLA‐DQB1*06:03:01 and HLA‐DRB1*09:01:02 ~ HLA‐DQA1*03:02. This is the first study to characterize all 12 HLA genes at high resolution in a single population. On the basis of the allelic frequencies of worldwide populations and principal component analysis, we confirmed the similarity of the study population to European and other Euro‐descendant populations.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

High‐resolution characterization of 12 classical and non‐classical HLA loci in Southern Brazilians

Castro

Issler

Gelmini

et al. 2019

HLA

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“…The evolutive reason of this frequency distribution is not yet known although it has been hypothesized an origin by a founder effect or related to HLA-G*01:05N-allele functions 53 . It has been already reported the HLA-G*01:05 N allele may provide some selective advantage such as avoiding maternal rejection and improving of immune response against some infections in healthy population 53 . Moreover, immune response can also affect cancer development and then the effect of HLA-G*01:05 N allele on cancer is an intriguing issue that needs further investigation.…”

Section: Discussionmentioning

confidence: 99%

“…No specific data for HLA-G*01:05 N in CRC were found in the literature, nevertheless it was demonstrated that HLA-G UTR-2 haplotype has a predictive role of neurotoxicity risk in non-metastatic CRC treated with FOLFOX4 (folinic acid/5-fluorouracil/oxaliplatin) 42 . Generally, HLA-G*01:05 N has a low frequency in the world, except for the Middle East populations, in particular North Indian and certain African population as Shona 52 . The evolutive reason of this frequency distribution is not yet known although it has been hypothesized an origin by a founder effect or related to HLA-G*01:05N-allele functions 53 .…”

Section: Discussionmentioning

confidence: 99%

“…Generally, HLA-G*01:05 N has a low frequency in the world, except for the Middle East populations, in particular North Indian and certain African population as Shona 52 . The evolutive reason of this frequency distribution is not yet known although it has been hypothesized an origin by a founder effect or related to HLA-G*01:05N-allele functions 53 . It has been already reported the HLA-G*01:05 N allele may provide some selective advantage such as avoiding maternal rejection and improving of immune response against some infections in healthy population 53 .…”

Section: Discussionmentioning

confidence: 99%

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Soluble HLA-G expression levels and HLA-G/irinotecan association in metastatic colorectal cancer treated with irinotecan-based strategy

Scarabel

Garziera

Fortuna

et al. 2020

Sci Rep

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We here explore the soluble Human Leukocyte Antigen-G (sHLA-G) expression level as clinical biomarker in metastatic colorectal cancer (mcRc). to this aim the sHLA-G protein was measured in plasma samples of 40 patients with mCRC treated with the FOLFIRI (irinotecan (CPT-11) plus 5-fluorouracil (5-FU) and leucovorin (LV)) regimen. The results suggest a link between HLA-G levels and irinotecan (CPT-11) pharmacokinetic, leading to hypothesize a molecular interaction between sHLA-G and CPT-11. This interaction was confirmed experimentally by fluorescence spectroscopy. HLA-G is known to exist in a number of polymorphs that affect both the protein expression levels and its peptide-binding cleft. The interaction between HLA-G polymorphs and CPT-11 was explored by means of computational modelling, confirming the hypothesis that CPT-11 could actually target the peptide binding cleft of the most common HLA-G polymorphs. The possibility to measure and monitor the level of soluble Human Leukocyte Antigen-G (sHLA-G) in body fluids such as plasma, serum, ascites, cerebrospinal fluids exudates, and the identification of early variations in HLA-G levels is emerging as a precious tool for the early diagnosis of cancer diseases and to monitor the appearance of recurrences 1. Although tissue and/or soluble HLA-G were already observed upregulated in patients with several cancers compared to healthy donors 2-6 , further investigation about its therapeutic role is still needed. HLA-G exerts immunoinhibitory activities mainly through a direct interaction with ILT receptors on effector cells and an indirect mechanism through regulatory cells 7. A specific inhibitory interaction of HLA-G expressed by target cells against TILs, in particular CD8+ ILT2+ T cell cytotoxicity, was reported as a mechanism of tumor escape from immunosurveillance 8. Recently, Pagès and colleagues showed the relevance of a new method called Immunoscore to stratify patients evaluating the presence of CD3+ and CD8+ T-cell effectors (TILs) and ensuring a more precise treatment with a better prognostic value in colon cancer 9. However, not all the independent evaluators are concordant for the TIL evaluation on hematoxylin and eosin stained and the concordant analysis was performed only on 10% of whole cohort (n = 268 cases) 9. The clinical relevance of sHLA-G expression has recently suggested that a stratification based on sHLA-G levels could also be an independent predictive and prognostic factor for patients with colorectal cancer (CRC) because its presence could alter the TILs interaction and then the immune system response 10. Moreover, these patients are often administered with irinotecan (CPT-11) as part of their therapy. CPT-11 is an antineoplastic drug present in several regimens used in combination with other chemotherapeutics to treat metastatic CRC (mCRC). It is also investigated for clinical applications in gastric, lung, pancreas, cervix, and ovarian cancers 11-16. CPT-11 acts as antineoplastic enzyme inhibitor of the DNA topoisomerase I, interfering wit...

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Next generation sequencing for HLA loci in full heritage Pima Indians of Arizona, Part II: HLA-A, -B, and -C with selected non-classical loci at 4-field resolution from whole genome sequences

et al. 2021

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HLA-G, -A haplotypes in Amerindians (Ecuador): HLA-G*01:05N World distribution

Cited by 5 publications

References 11 publications

High‐resolution characterization of 12 classical and non‐classical HLA loci in Southern Brazilians

High‐resolution characterization of 12 classical and non‐classical HLA loci in Southern Brazilians

Soluble HLA-G expression levels and HLA-G/irinotecan association in metastatic colorectal cancer treated with irinotecan-based strategy

Next generation sequencing for HLA loci in full heritage Pima Indians of Arizona, Part II: HLA-A, -B, and -C with selected non-classical loci at 4-field resolution from whole genome sequences

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