Review
Genetics & Heredity
Zhiyu Xia, Yufei Wang, Fu Liu, Hongxin Shu, Peng Huang
Summary: The TNF-alpha-308G/A polymorphism is associated with COPD susceptibility, particularly in the Asian population. However, no significant association was found in smokers or Caucasian individuals. In addition, other variants of the TNF-alpha gene are not associated with the risk of COPD.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Magda M. Hagag, Mai M. Ghazy, Nesreen G. Elhelbawy
Summary: This study found that AG polymorphism and A allele of TNF-alpha -238G/A (rs 361,525) were significantly higher in patients with psoriasis compared to controls, while AG polymorphism and A allele of TNF-alpha -308G/A (rs1800629) were significantly higher in controls than in patients. The serum levels of TNF-alpha were also significantly higher in patients with psoriasis compared to controls.
BIOCHEMISTRY AND BIOPHYSICS REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Saima Suleman, Gagan Chhabra, Rubab Raza, Arslan Hamid, Javed Anver Qureshi, Nihal Ahmad
Summary: This study assessed the association between nsSNPs of the CARD14 gene and psoriasis in a Pakistani population. The study found that two nsSNPs, rs2066965 and rs34367357, were associated with psoriasis, and that the heterozygous genotype of rs2066965 was more prevalent in patients with joint pain.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Leqaa Abd Al Azeem Moemen, Mohamed El Shahat Ebeid, Amira A. Abdelazeem, Mahmoud Kenawy M. Kenawy, Zeinab M. Osman
Summary: This study found that the serum levels of TNF-alpha are increased in diabetic patients and TNF-alpha assay could be used as a diagnostic tool to predict the occurrence and progression of diabetic retinopathy.
ARCHIVES OF PHYSIOLOGY AND BIOCHEMISTRY
(2023)
Article
Virology
Yubao Zhao, Kun Chen, Hui Yang, Feng Zhang, Lu Ding, Yan Liu, Le Zhang, Yuchen Zhang, Huiliang Wang, Yang Deng
Summary: HLA-DR genetic polymorphisms may predispose the host to immunoselection of HCC-related HBV mutations and affect the risk of HCC possibly through interacting with HBV mutations.
Article
Obstetrics & Gynecology
Cui Ma, Yuanyuan Zheng, Xiaowei Liu, Weiyuan Zhang
Summary: The study revealed that pregnant women with PE had increased gravidity, higher BMI before delivery, reduced neonatal weight, gestational weeks, and placental weight, as well as a higher proportion of cesarean section. Significant differences in SNPs were found at locus 29794467, 29796376, and 29799440 between the PE group and the control group. In locus 29799440, patients with genotype CC had a lower risk of PE compared to patients with genotype TT, while there was no significant difference in PE risk between patients with genotype CT and TT.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Pei-Liang Wu, Xiao Chun Ling, Eugene Yu-Chuan Kang, Kuan-Jen Chen, Nan-Kai Wang, Laura Liu, Yen-Po Chen, Yih-Shiou Hwang, Chi-Chun Lai, Shun-Fa Yang, Wei-Chi Wu
Summary: The study found that TIMP-2 gene polymorphisms are associated with the risk and severity of retinopathy of prematurity (ROP). Individuals with rs12600817 gene polymorphism are more likely to develop ROP and have a higher risk. Individuals with rs2889529 gene polymorphism are correlated with the treatment response of ROP.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Cristina Membrive-Jimenez, Cristina Perez-Ramirez, Salvador Arias-Santiago, Antonio Giovanni Richetta, Laura Ottini, Laura Elena Pineda-Lancheros, Maria del Carmen Ramirez-Tortosa, Alberto Jimenez-Morales
Summary: This study evaluated the influence of single-nucleotide polymorphisms on the drug survival of biological therapies in patients with moderate-to-severe psoriasis. The results suggest that SNPs in the HLA-C, TNF, TLR5, CD84, PDE3A, and SLCO1C1 genes may serve as biomarkers for drug survival, enabling personalized medicine and improving patient quality of life while reducing healthcare costs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Immunology
Xiaohua Liang, Jian Wang, Yongshi Liu, Lin Wei, Feng Tian, Jianyong Sun, Guoliang Han, Yan Wang, Chao Ding, Zhaolei Guo
Summary: SNPs of COX/PGE2 pathway-related genes are associated with an elevated risk of lung cancer, providing new clues for understanding the pathogenesis and personalized treatment of the disease.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2022)
Article
Rheumatology
Marijana Miler, Nora Nikolac Gabaj, Ivana Celap, Simeon Grazio, Vedran Tomasic, Alen Biscanin, Josko Mitrovic, Lovorka Derek, Jadranka Morovic-Vergles, Nada Vrkic, Mario Stefanovic
Summary: The study found an association between the TNF-alpha-308 GG genotype and higher CRP and fecal calprotectin concentrations in patients with inflammatory bowel diseases on IFX or ADM therapy. However, clinical remission and development of antibodies to anti-TNF drugs were not associated with TNF-alpha-238 and -308 polymorphisms.
RHEUMATOLOGY INTERNATIONAL
(2021)
Article
Biochemistry & Molecular Biology
Xingchen Zhou, Yijing He, Yehong Kuang, Wangqing Chen, Wu Zhu
Summary: This study aimed to explore the association between HLA gene variations and the response to acitretin treatment in patients with psoriasis. The results showed that HLA-DQA1*:02:01 and DQB*:02:02 alleles were associated with the response to acitretin, suggesting their potential role as pharmacogenetic markers.
FRONTIERS IN BIOSCIENCE-LANDMARK
(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)
Article
Genetics & Heredity
Marcos Calderon, Manuel J. More, Gustavo A. Gutierrez, Federico Abel Ponce de Leon
Summary: The project aimed to develop an alpaca single nucleotide polymorphism (SNP) microarray to improve the economic benefits and quality of life for small farm producers. The incorporation of molecular marker technology overcame current limitations for genetic improvement programs.
Article
Multidisciplinary Sciences
Ishtiaque Ahammad, Tabassum Binte Jamal, Arittra Bhattacharjee, Zeshan Mahmud Chowdhury, Suparna Rahman, Md Rakibul Hassan, Mohammad Uzzal Hossain, Keshob Chandra Das, Chaman Ara Keya, Md Salimullah
Summary: GRIN2A is a gene encoding NMDA receptors in the central nervous system, playing a crucial role in synaptic transmission, plasticity, and excitotoxicity. Variants in this gene, particularly the I463S variant, are predicted to have deleterious effects on protein structure and function. Bioinformatics tools were used to assess the impact of these variants, providing valuable insights for future research on GRIN2A-related diseases.
Article
Multidisciplinary Sciences
Yaxin Xu, Wentao Xue, Hongwei Gao, Jiabo Cui, Lingzhi Zhao, Chongge You
Summary: Studies have shown that TLRs gene polymorphisms may play a significant role in HBV and HCV infections, with certain SNPs affecting disease progression and prognosis. However, the exact mechanism of action still requires further exploration.
Article
Endocrinology & Metabolism
Paula Takahashi, Danilo J. Xavier, Jessica E. B. F. Lima, Adriane F. Evangelista, Cristhianna V. A. Collares, Maria C. Foss-Freitas, Diane M. Rassi, Eduardo A. Donadi, Geraldo A. Passos, Elza T. Sakamoto-Hojo
Summary: This study identified differentially expressed genes in peripheral blood mononuclear cells (PBMCs) of type 1 diabetes (T1D) patients compared to controls using microarray analysis, revealing important biological functions related to oxidative stress response, DNA repair, inflammation, and apoptosis in T1D pathogenesis. Additionally, new insights were gained on microRNA-mRNA interactions that may play key roles in T1D development.
JOURNAL OF DIABETES RESEARCH
(2022)
Article
Dermatology
Sebastian Vernal, Ederson Valei de Oliveira, Roberto Bueno Filho, Tamiris A. Julio, Eduardo A. Donadi, Aline Turatti, Norito Ishii, Takashi Hashimoto, Ana Maria Roselino
Summary: This study describes the occurrence and clinical-laboratory findings of BP-milia association in a southeastern Brazilian sample. The results suggest that milia formation in BP patients may be more common than previously thought, and laboratory data reveal increased IgE levels, autoantibody reactions, as well as the HLA-DQB1*06 allelic group associated with BP-milia association. Careful determination of antibodies against basement membrane zone molecules and HLA characterization in different populations may provide further insights into this association.
ANAIS BRASILEIROS DE DERMATOLOGIA
(2022)
Article
Genetics & Heredity
Guilherme Valle-Silva, Tamara Soledad Frontanilla, Jesus Ayala, Eduardo Antonio Donadi, Aguinaldo Luiz Simoes, Erick C. Castelli, Celso Teixeira Mendes-Junior
Summary: Short tandem repeats (STRs) are challenging to genotype with next-generation sequencing (NGS) technology, but several tools are available for analysis. This study evaluated three tools and found that toaSTR had the highest genotype retrieval rate and overall performance, while all three tools were reliable for genotyping. The accuracy levels for genotype calling were similar across the three methods.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2022)
Correction
Multidisciplinary Sciences
Michel S. Naslavsky, Marilia O. Scliar, Guilherme L. Yamamoto, Jaqueline Yu Ting Wang, Stepanka Zverinova, Tatiana Karp, Kelly Nunes, Jose Ricardo Magliocco Ceroni, Diego Lima de Carvalho, Carlos Eduardo da Silva Simoes, Daniel Bozoklian, Ricardo Nonaka, Nayane dos Santos Brito Silva, Andreia da Silva Souza, Heloisa de Souza Andrade, Marilia Rodrigues Silva Passos, Camila Ferreira Bannwart Castro, Celso T. Mendes-Junior, Rafael L. V. Mercuri, Thiago L. A. Miller, Jose Leonel Buzzo, Fernanda O. Rego, Nathalia M. Araujo, Wagner C. S. Magalhaes, Regina Celia Mingroni-Netto, Victor Borda, Heinner Guio, Carlos P. Rojas, Cesar Sanchez, Omar Caceres, Michael Dean, Mauricio L. Barreto, Maria Fernanda Lima-Costa, Bernardo L. Horta, Eduardo Tarazona-Santos, Diogo Meyer, Pedro A. F. Galante, Victor Guryev, Erick C. Castelli, Yeda A. O. Duarte, Maria Rita Passos-Bueno, Mayana Zatz
NATURE COMMUNICATIONS
(2022)
Article
Multidisciplinary Sciences
Michel S. Naslavsky, Marilia O. Scliar, Guilherme L. Yamamoto, Jaqueline Yu Ting Wang, Stepanka Zverinova, Tatiana Karp, Kelly Nunes, Jose Ricardo Magliocco Ceroni, Diego Lima de Carvalho, Carlos Eduardo da Silva Simoes, Daniel Bozoklian, Ricardo Nonaka, Nayane dos Santos Brito Silva, Andreia da Silva Souza, Heloisa de Souza Andrade, Marilia Rodrigues Silva Passos, Camila Ferreira Bannwart Castro, Celso T. Mendes-Junior, Rafael L. Mercuri, Thiago L. A. Miller, Jose Leonel Buzzo, Fernanda O. Rego, Nathalia M. Araujo, Wagner C. S. Magalhaes, Regina Celia Mingroni-Netto, Victor Borda, Heinner Guio, Carlos P. Rojas, Cesar Sanchez, Omar Caceres, Michael Dean, Mauricio L. Barreto, Maria Fernanda Lima-Costa, Bernardo L. Horta, Eduardo Tarazona-Santos, Diogo Meyer, Pedro A. F. Galante, Victor Guryev, Erick C. Castelli, Yeda A. O. Duarte, Maria Rita Passos-Bueno, Mayana Zatz
Summary: This study presents a high-coverage WGS dataset of elderly Brazilians from a mixed population, providing valuable data on non-European and mixed populations. The results demonstrate that WGS can identify previously undescribed variants and genomic segments, as well as alleles from HLA genes. The study also shows the clinical usefulness of reclassifying and validating variants associated with dominantly-inherited Mendelian disorders. Furthermore, the findings highlight the improved potential of whole-genome and HLA imputation using WGS data.
NATURE COMMUNICATIONS
(2022)
Letter
Dermatology
Marcela Rosa de Almeida Farid, Roberto Bueno-Filho, Eduardo Antonio Donadi, Ana Maria Roselino
ANAIS BRASILEIROS DE DERMATOLOGIA
(2022)
Article
Cell Biology
Maria Luiza Guimaraes de Oliveira, Erick C. Castelli, Luciana C. Veiga-Castelli, Alison E. Pereira, Leticia Marcorin, Thassia M. T. Carratto, Andreia S. Souza, Heloisa S. Andrade, Aguinaldo L. Simoes, Eduardo A. Donadi, David Courtin, Audrey Sabbagh, Silvana Giuliatti, Celso Teixeira Mendes-Junior
Summary: This study investigates the genetic diversity and selection signatures on the LILRB1/2 regions in a population sample from Sao Paulo State, Brazil. The findings show that LILRB1 and LILRB2 play a crucial role in maintaining self-tolerance and modulating the immune response, and are subject to either positive or purifying selection. Certain residues in both proteins are under positive selection, suggesting beneficial functional changes. The allelic variation also affects the structure and stability of these molecules, with LILRB2 showing higher average stability.
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
Tamara Soledad Frontanilla, Guilherme Valle-Silva, Jesus Ayala, Celso Teixeira Mendes-Junior
Summary: By conducting a comprehensive genotyping analysis of STRs obtained from the 1000 Genome populations, we established a reliable open-access STR database and identified limitations of HipSTR in detecting longer alleles.
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)
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)