Article
Medicine, Research & Experimental
Wei Bai, Zhi Lin, Jin Ye, Linshuang Zhou, Jingqiao Xi, Wenpin Cai
Summary: Polymorphisms in the 3'UTR of the HLA-G gene are associated with the development of URSA and may serve as predictors of pregnancy outcome.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2022)
Review
Immunology
Lian Hu, Dongmei He, Hong Zeng
Summary: HLA-G plays a central role in immune tolerance at the maternal-fetal interface and its polymorphism is associated with sHLA-G expression and the risk of recurrent implantation failure (RIF). However, the association of HLA-G polymorphisms with RIF in the general population is unclear and may vary among different ethnic backgrounds. Future studies should consider a combined genetic effect to confirm the association of HLA-G polymorphisms and sHLA-G expressions in relation to RIF.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Immunology
Carolyn Katovich Hurley
Summary: The development of standardized HLA nomenclature, overseen by the Nomenclature Committee for Factors of the HLA System, has been critical in understanding the HLA system and facilitating clinical applications. Community consensus reached through international workshops has guided the decisions, leading to curated databases and reference sites for HLA alleles. This review covers the major steps in the development of HLA nomenclature and efforts to extend its usefulness in research and clinical applications.
Article
Immunology
Erick C. Castelli, Mateus V. de Castro, Michel S. Naslavsky, Marilia O. Scliar, Nayane S. B. Silva, Raphaela N. Pereira, Viviane A. O. Ciriaco, Camila F. B. Castro, Celso T. Mendes-Junior, Etiele de S. Silveira, Iuri M. de Oliveira, Eduardo C. Antonio, Gustavo F. Vieira, Diogo Meyer, Kelly Nunes, Larissa R. B. Matos, Monize V. R. Silva, Jaqueline Y. T. Wang, Joyce Esposito, Vivian R. Coria, Jhosiene Y. Magawa, Keity S. Santos, Edecio Cunha-Neto, Jorge Kalil, Raul H. Bortolin, Mario Hiroyuki Hirata, Luiz P. Dell'Aquila, Alvaro Razuk-Filho, Pedro B. Batista-Junior, Amaro N. Duarte-Neto, Marisa Dolhnikoff, Paulo H. N. Saldiva, Maria Rita Passos-Bueno, Mayana Zatz
Summary: The study found that resilient super elderly individuals have a higher frequency of missense variants in the MUC22 gene, which may play a protective role against severe Covid-19 by reducing overactive immune responses, thus lowering the risk of severe outcomes.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Monika Zaborek-Lyczba, Jakub Lyczba, Paulina Mertowska, Sebastian Mertowski, Anna Hymos, Martyna Podgajna, Paulina Niedzwiedzka-Rystwej, Ewelina Grywalska
Summary: HLA-G, a non-classical MHC class I molecule, has been studied for its relevance in pathological conditions like autoimmune diseases. Current research aims to utilize HLA-G in clinical practice for diagnostics and therapeutic purposes, as it is known for its immunomodulatory role in reducing inflammation and immune responses.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Mepur H. Ravindranath, Narendranath M. Ravindranath, Senthamil R. Selvan, Fatiha El Hilali, Carly J. Amato-Menker, Edward J. Filippone
Summary: HLA-I molecules have different forms, including Face-1, Face-2, Face-3, and Face-4. Face-2 is expressed at low levels on normal cell surfaces but is upregulated on immune cells upon activation. It is associated with human cancer development and spontaneous arthritis.
Article
Immunology
Shihang Zhou, Ming Liu, Yuexin Xia, Li Zhang, Linnan Shao, Ni Wang, Weijian Yu, Nan Ding, Kaili Zhang, Xiaohua Liang
Summary: This study found an association between HLA-G 3'UTR polymorphisms and the susceptibility to chronic hepatitis C infection in the Chinese population. Specific UTR haplotypes showed significant associations with chronic hepatitis C.
Article
Immunology
Binata Marik, Khusru Nomani, Nutan Agarwal, Vatsla Dadhwal, Arundhati Sharma
Summary: HLA-G polymorphisms affect its expression and may lead to a breakdown of maternal tolerance towards the semi-allogenic fetus, causing recurrent spontaneous abortions (RSA). This study examines the association of HLA-G regulatory region polymorphisms with idiopathic RSA. Screening of HLA-G 5'-upstream regulatory region (5'-URR) was done by direct sequencing and the 14 bp deletion/insertion polymorphism in the 3'-untranslated region (3'-UTR) was genotyped. The study suggests a protective role of CC genotypes of HLA-G 5'-URR polymorphisms and a higher risk of RSA for women with the 14 bp deletion/insertion genotype.
AMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY
(2023)
Article
Multidisciplinary Sciences
Leidy Pedraza, Milena Camargo, Darwin A. Moreno-Perez, Ricardo Sanchez, Luisa Del Rio-Ospina, Indira M. Baez-Murcia, Manuel E. Patarroyo, Manuel A. Patarroyo
Summary: This study identified 16 HLA-DRB1 alleles in Colombian women that significantly influence the outcome of Chlamydia trachomatis infection. DRB1*08:02:01G and DRB1*12:01:01G were related to infection-promoting events, while only the DQB1*05:03:01G allele related to clearance/persistence events. Women homozygous for HLA-DRB1 alleles were associated with lower clearance probability and/or early occurrence of persistence.
SCIENTIFIC REPORTS
(2021)
Article
Oncology
Levent Emirzeoglu, Ozgur Olmez, Fatma Nihan Akkoc Mustafayev, Ufuk Berber, Ismail Yilmaz, Serkan Celik, Bala Basak Oven, Mehmet Alpaslan Ozgun
Summary: Aberrant expression of human leukocyte antigen G (HLA-G) has been observed in various cancer types. This study investigated the relationship between HLA-G expression and the expression levels of miR-148a and miR-152 in colon cancer and their association with survival outcomes and clinicopathological data. The study found that HLA-G expression was associated with poor prognosis in colon cancer, and decreased miR-148a expression in colon cancer tissues may be associated with HLA-G-mediated carcinogenesis.
Letter
Oncology
Gilbert T. Chua, Jaime S. Rosa Duque, Daniel Ka Leung Cheuk, Alex Wing Kwan Leung, Wilfred Hing Sang Wong, Anthony Pak Yin Liu, Pamela P. W. Lee, Shau Yin Ha, Alan Kwok Shing Chiang, Marco Hok Kung Ho, Wai Keung Chu, Yuk Sing Chan, Chun Wing Luk, Alvin Siu Cheung Ling, Mike Yat Wah Kwan, Oscar Kuen Fong Yiu, Ian Chi Kei Wong, Yu Lung Lau, Chi Kong Li, Wing Hang Leung, Godfrey Chi Fung Chan, Patrick Ip, Janette Kwok
Summary: A retrospective study on Chinese children with haematological malignancies found a significant association between HLA-B*46:01, DRB1*09:01 alleles and asparaginase hypersensitivity, even after adjusting for age, gender, and specific types of leukemia.
JOURNAL OF HEMATOLOGY & ONCOLOGY
(2021)
Article
Multidisciplinary Sciences
Erick C. Castelli, Bibiana S. de Almeida, Yara C. N. Muniz, Nayane S. B. Silva, Marilia R. S. Passos, Andreia S. Souza, Abigail E. Page, Mark Dyble, Daniel Smith, Gabriela Aguileta, Jaume Bertranpetit, Andrea B. Migliano, Yeda A. O. Duarte, Marilia O. Scliar, Jaqueline Wang, Maria Rita Passos-Bueno, Michel S. Naslavsky, Mayana Zatz, Celso Teixeira Mendes-Junior, Eduardo A. Donadi
Summary: HLA-G is a promiscuous immune checkpoint molecule with substantial genetic variability, mostly found in introns and regulatory sequences, and few common proteins observed worldwide. The study provides insights into the genetic diversity of HLA-G and its role as an immune checkpoint molecule rather than an antigen-presenting molecule, highlighting the relevance of understanding HLA-G variability across populations for disease association and functional studies.
SCIENTIFIC REPORTS
(2021)
Article
Engineering, Biomedical
Yi-Hsien Fang, Saprina P. H. Wang, I-Chuang Liao, Kuen-Jer Tsai, Po-Hsien Huang, Pei-Jung Yang, Chia-Jui Yen, Ping-Yen Liu, Yan-Shen Shan, Yen-Wen Liu
Summary: This study demonstrates the immune privilege of HLA-E-high/HLA-G(high)/HLA-IIlow hiPSC-CMs and their potential for improving post-infarct cardiac function and reducing infarct size. These cells activate the SHP-1 signaling pathway to evade attack from immune cells and show promising results in regenerative medicine.
ADVANCED HEALTHCARE MATERIALS
(2023)
Article
Virology
Zepei Feng, Peng Huang, Jinwei Zhang, Xueshan Xia, A-mei Zhang, Tian Zeng, Qiong Chen, Chuanlong Zhu, Weilong Tan, Yun Zhang, Ming Yue
Summary: The genetic variants of KIR2DL4 and HLA-G are associated with susceptibility to hepatitis C virus infection.
JOURNAL OF MEDICAL VIROLOGY
(2023)
Review
Immunology
Simon Jasinski-Bergner, Dominik Schmiedel, Ofer Mandelboim, Barbara Seliger
Summary: This review provides a summary of the expression, regulation, function, and impact of HLA-G in the context of different viral infections, including virus-associated cancers. It emphasizes the potential use of HLA-G as a novel diagnostic and prognostic biomarker for viral infections, as well as a therapeutic target.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Medicine, General & Internal
Mateus de Castro, Monize V. R. Silva, Flavia B. Soares, Vivian R. Coria, Michel S. Naslavsky, Marilia O. Scliar, Erick C. Castelli, Jamile R. de Oliveira, Greyce L. Sasahara, Keity S. Santos, Edecio Cunha-Neto, Jorge Kalil, Mayana Zatz
Summary: This case report discusses a pair of monozygotic twins who both developed severe COVID-19 despite their young age and good health conditions. Although they shared the same genetic mutations, their clinical progressions were different. Additionally, one of the twins experienced long-COVID symptoms. The study highlights the role of immune response and genetics in the presentation and course of COVID-19, and suggests a relationship between hospitalization duration and long-COVID symptoms.
FRONTIERS IN MEDICINE
(2022)
Review
Immunology
Cinthia C. Alves, Thais Arns, Maria L. Oliveira, Philippe Moreau, Dinler A. Antunes, Erick C. Castelli, Celso T. Mendes-Junior, Silvana Giuliatti, Eduardo A. Donadi
Summary: In this study, we utilized computational and atomistic approaches to evaluate the structure and dynamics of HLA-G isoforms, the impact of missense mutations at LILRB1/2 genes, and the differential binding of HIF1 to HREs at the HLA-G gene. We also discovered new findings including the instability of HLA-G6 isoforms, the impact of amino acid exchanges at the intracellular domain on HLA-G binding, and the higher affinity of HREs with a guanine at the third position for HIF1. These results shed light on the functional aspects of HLA-G and provide alternative tools to experimental physical methodologies.
Article
Genetics & Heredity
Vitor R. C. Aguiar, Erick C. Castelli, Richard M. Single, Arman Bashirova, Veron Ramsuran, Smita Kulkarni, Danillo G. Augusto, Maureen P. Martin, Maria Gutierrez-Arcelus, Mary Carrington, Diogo Meyer
Summary: Human leukocyte antigen (HLA) class I and II loci play important roles in innate and acquired immunity. They are involved in antigen presentation, immune responses, and modulation of NK cells. Genome-wide association studies have revealed their significant influence on disease outcomes. HLA expression levels, estimated traditionally by quantitative PCR (qPCR), have also been implicated in disease outcomes. However, technical issues with high polymorphism have hindered the use of RNA-seq for estimating HLA expression. This study compared qPCR, RNA-seq, and cell surface expression for HLA class I genes and found a moderate correlation between qPCR and RNA-seq estimates.
Article
Geriatrics & Gerontology
Mateus de Castro, Monize V. R. Silva, Michel S. Naslavsky, Marilia O. Scliar, Kelly Nunes, Maria Rita Passos-Bueno, Erick C. Castelli, Jhosiene Y. Magawa, Flavia L. Adami, Ana I. S. Moretti, Vivian L. de Oliveira, Silvia B. Boscardin, Edecio Cunha-Neto, Jorge Kalil, Emmanuelle Jouanguy, Paul Bastard, Jean-Laurent Casanova, Mauricio Quinones-Vega, Patricia Sosa-Acosta, Jessica S. de Guedes, Natalia P. de Almeida, Fabio C. S. Nogueira, Gilberto B. Domont, Keity S. Santos, Mayana Zatz
Summary: Despite their advanced age, these supercentenarians exhibited strong humoral immune response against SARS-CoV-2 and enrichment of plasma proteins and metabolites related to innate immunity. They also did not carry rare gene variants related to immune disorders. This suggests a combination of genetic background and immune function contributed to their Covid-19 resilience.
Article
Dermatology
Ludmilla Figueiredo Fontenelle, Roberto Bueno-Filho, Renata Delfino, Giovanna Stefanne Lopes Barbosa, Eduardo Antonio Donadi, Ana Maria Roselino
Summary: DCP/DP treatment showed similar outcomes in PV and PF patients. Earlier initiation of DCP/DP should be considered for PF patients due to longer disease duration.
ANAIS BRASILEIROS DE DERMATOLOGIA
(2023)
Article
Genetics & Heredity
Erick C. Castelli, Gabriela Sato Paes, Isabelle Mira da Silva, Philippe Moreau, Eduardo A. Donadi
Summary: The HLA-G gene plays an important role in maternal-fetal tolerance, mainly expressed in the placenta. The presence of the 92bDel transcript in placenta samples is correlated with HLA-G polymorphisms at the 3' untranslated region (3' UTR). The +3010/C allele triggers the alternative splicing that produces a shorter and more stable transcript, while the HG010101 lineage is less likely to produce this transcript.
Article
Infectious Diseases
Mateus V. de Castro, Monize V. R. Silva, Luana de M. Oliveira, Sarah C. Gozzi-Silva, Michel S. Naslavsky, Marilia O. Scliar, Monize L. Magalhaes, Katia M. da Rocha, Kelly Nunes, Erick C. Castelli, Jhosiene Y. Magawa, Keity S. Santos, Edecio Cunha-Neto, Maria N. Sato, Mayana Zatz
Summary: Researchers have found that patients with Turner syndrome have a weakened immune response to SARS-CoV-2, making them more susceptible to COVID-19. They also identified rare genetic variants related to interferon immunity in their genes. These findings are important for understanding the impact of COVID-19 in different populations.
INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES
(2023)
Letter
Immunology
Nivia Maria Rodrigues Arrais, Ricardo Fernando Arrais, Marilia Costa Coelho, Neifi Hassan Saloum Deghaide, Eduardo Antonio Donadi, Claudia Rodrigues Souza Maia, Maria Isabel de Moraes-Pinto
PEDIATRIC INFECTIOUS DISEASE JOURNAL
(2023)
Article
Cell Biology
Maria Luiza de Oliveira-Caramez, Luciana Veiga-Castelli, Andreia S. Souza, Renata Nahas Cardili, David Courtin, Milena Floria-Santos, Eduardo Donadi, Silvana Giuliatti, Audrey Sabbagh, Erick C. Castelli, Celso Teixeira Mendes-Junior
Summary: Vitiligo is a common cause of depigmentation worldwide. Genetic association studies have identified 50 loci associated with the disease, including HLA-G, LILRB1, and LILRB2, which play roles in immunity. This study investigated the association of these genes with vitiligo risk and found an interaction between HLA-G and LILRB1 in the pathogenesis.
Article
Biochemistry & Molecular Biology
Bruna C. Bertol, Guilherme Debortoli, Fabricio C. Dias, Jessica N. G. de Araujo, Luana S. M. Maia, Bibiana S. de Almeida, Nathalie L. de Figueiredo-Feitosa, Luiz Carlos C. de Freitas, Erick C. Castelli, Celso T. Mendes-Junior, Vivian N. Silbiger, Lea M. Z. Maciel, Eduardo A. Donadi
Summary: HLA-G gene variability is associated with PTC development and morbidity, as well as the magnitude of the encoded protein expression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Thassia Mayra Telles Carratto, Vitor Matheus Soares Moraes, Tamara Soledad Frontanilla Recalde, Maria Luiza Guimaraes De Oliveira, Celso Teixeira Mendes-Junior
Summary: Massively parallel sequencing (MPS) has revolutionized DNA analysis in forensic genetics, allowing simultaneous analysis of thousands of genetic markers and generating high-resolution data. It has enabled the discovery of variations in core short tandem repeat loci, development of new marker types, and analysis of DNA methylation patterns, mitochondrial DNA, mRNA, and microRNA. MPS technology also empowers the study of metagenomics for individual identification, post-mortem interval estimation, and geolocation inference.
GENETICS AND MOLECULAR BIOLOGY
(2022)