Background: COVID-19 is a respiratory disease caused by a novel coronavirus called as Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). Detected for the first time in December 2019 in Wuhan and it has quickly spread all over the world in a couple of months and becoming a world pandemic. Symptoms of the disease and clinical outcomes are very different in infected people. These differences highlight the paramount need to study and understand the human genetic variation that occurring viral infections. Human leukocyte antigen (HLA) is an important component of the viral antigen presentation pathway, and it plays an essential role in conferring differential viral susceptibility and severity of diseases. HLA alleles have been involved in the immune response to viral diseases such as SARS-CoV-2. Main body of the Herein, we sought to evaluate this hypothesis by summarizing the association between HLA class I and class II alleles with COVID-19 susceptibility and/or severity reported in previous studies among different populations (Chinese, Italian, Iranian, Japanese, Spanish, etc.). The findings of all selected articles showed that several alleles have been found associated with COVID-19 susceptibility and severity. Even results across articles have been inconsistent and, in some cases, conflicting, highlighting that the association between the HLA system and the COVID‐19 outcome might be ethnic‐dependent, there were some alleles in common between some populations such as HLA-DRB1*15 and HLA-A*30:02. Conclusion: These contradictory findings warrant further large, and reproducible studies to decipher any possible genetic predisposition underlying susceptibility to SARS-COV-2 and disease progression and host immune response.

Objective: This meta-analysis aims to systematically evaluate the associations of four specific Single Nucleotide Polymorphisms (SNPs)—rs712829, rs712830, rs11568315, and rs884225—located in the promoter, intronic, and 3’ untranslated regions (3’UTR) of the EGFR gene, with lung cancer risk. Introduction: The associations between EGFR gene polymorphisms and lung cancer risk is a topic of ongoing debate, which is still deemed controversial. Despite numerous studies, results are inconsistent. Methods: We conducted a comprehensive literature search across the PubMed, Science Direct, and Web of Science databases to identify relevant case-control studies examining the association between EGFR gene polymorphisms and lung cancer risk. Results: From an initial pool of 26,959 articles, 10 case-control studies were included, involving 2471 lung cancer patients and 4489 controls. A significant association between rs712829 and increased lung cancer risk was found across multiple genetic models. Under the allelic contrast model (G vs T), the OR was 1.31 (95% CI = [1.02; 1.68], p < 0.05), the dominant model (GG + GT vs TT) showed an OR of 1.69 (95% CI = [1.07; 2.67], p < 0.05), the homozygote model (GG vs TT) yielded an OR of 1.70 (95% CI = [1.00; 2.88], p < 0.05), and the heterozygote model (GT vs TT) had an OR of 1.64 (95% CI = [1.01; 2.66], p < 0.05). No significant associations were found for rs11568315, rs712830, and rs884225. Conclusion: The findings from the current meta-analysis confirm that rs712829 within the EGFR gene is significantly associated with lung cancer risk according to the allele, dominant, homozygote and heterozygote models.

Inflammatory breast cancer (IBC) is a rare and aggressive form of breast cancer, characterized by distinct clinicopathological features and a relatively high frequency in North African countries. While several studies have explored the genetic basis of breast cancer, limited research has looked into the specific genetic features of this aggressive form. This study aims to investigate the genetic factors associated with IBC in North Africa, particularly among Tunisian patients. Whole exome sequencing was performed for 13 patients with IBC. Clinicopathological data have been collected to assess the phenotype-genotype correlation. Both germline point mutations and copy number variations (CNVs) were analyzed. Genes and variants were prioritized through phenotype and genotype-driven approaches. Variants were filtered based on pathogenicity predictions and ACMG classification. A Gene-Disease association analysis was conducted using DisGeNET data and the VarElect online tool to select candidate genes most likely involved in disease onset. The predictive and prognostic values of the relevant genes were assessed using publicly available datasets. Our investigations revealed relevant genetic variants within established cancer predisposing genes, inflammatory pathways, and potential candidate predisposing genes, including BRCA2 c.1794_1798del, a novel mutation in RAD54L gene (c.1712T > C) and c.555_559del in IFNAR2 gene. CNVs in ABRAXAS1, XRCC2 and FANC genes were identified. We have also found that the high expression levels of RAD54L and MTHFR are correlated with good survival rates. The genetic makeup of IBC seems to be very heterogeneous. For the same patient, we have detected several relevant variants that might explain disease development and progression, and this was consistent with the family history of cancer observed in the investigated families. Our findings revealed a complex and heterogeneous genetic background of IBC in the Tunisian population that might contribute to disease susceptibility and impact disease prognosis. The genetic features of IBC presented in this study provide valuable insights into the molecular mechanisms underlying the disease offering not only a deeper understanding within the context of Tunisia but also shedding light on its relevance to other North African populations characterized by similar epidemiological and genetic features.

Background: Triple-negative breast cancer (TNBC) is a highly aggressive subtype of breast cancer characterized by the absence of hormone receptors and HER2 expression, resulting in limited treatment options and poorer prognoses. This study investigates the genetic landscape of TNBC in Moroccan patients through high-throughput whole-exome sequencing (WES) to identify genetic alterations that could enhance diagnostic accuracy and inform targeted therapies. Case Presentation: This study included 10 unrelated Moroccan female patients diagnosed with TNBC, recruited from the National Institute of Oncology in Rabat, Morocco. Clinical data, including tumor location, Scarff-Bloom-Richardson (SBR) grade, histological type, lymph node involvement, and Ki-67 index, were collected. Tumor grades varied from SBR grade II to IV, with some cases demonstrating metastasis to distant organs. The Ki-67 index ranged from 10% to 80%, indicating a range of tumor proliferative activity across the cohort. Conclusion: This study provides insights into the genetic landscape of TNBC in Moroccan patients. It highlights novel genetic variants in CTBP2, IGSF3, ZNF334, TPRG1, and NMNAT1, suggesting their potential as biomarkers and therapeutic targets for TNBC. These findings emphasize the importance of investigating genetic alterations in underrepresented populations, which could help refine treatment strategies and predict treatment responses.

Background The coronavirus disease 2019 (COVID-19) is an infectious disease, caused by the new coronavirus known as Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), and exhibits diverse clinical outcomes and symptoms in infected individuals, emphasizing the need to investigate how human genetic diversity influences the virus’s impact. This study aims to employ in silico methods to identify epitopes capable of eliciting an immune response, focusing on the most prevalent HLA-I and HLA-II alleles in the Moroccan population. Methods Our research consisted in predicting peptide-binding affinities between the most prevalent HLA Class I and Class II alleles in the Moroccan population and SARS-CoV-2 spike glycoprotein (S protein) peptides of variants isolated from strains of Moroccan patients. We performed the same analyses for SARS-CoV-2 wild type S protein to assess the ability of these HLA alleles to interact with peptides in the presence or absence of SARS-CoV-2 mutations. Results In a broader sense, 12 distinct HLA Class I and Class II alleles in the Moroccan population have been identified as possibly interacting with 19 epitopes in the SARS-CoV-2 S protein. Findings of this study must be validated in both in vitro and in vivo models. Conclusions These data may help clarify the issue of host cell susceptibility and the outcome of SARS-CoV-2 infection, and may guide further research to uncover potential targets for the vaccination strategy.

: The 14th African Society of Human Genetics (AfSHG) Morocco Meeting and 2nd International Congress of the Moroccan Society of Genomics and Human Genetics (SM2GH), held in Rabat, Morocco, from December 12 through 17, 2022, brought together 298 attendees from 23 countries, organized by the AfSHG in collaboration with the SM2GH. The conference’s overarching theme was “Applications of Genomics Medicine in Africa,” covering a wide range of topics, including population genetics, genetics of infectious diseases, hereditary disorders, cancer genetics, and translational genetics. The conference aimed to address the lag in the field of genetics in Africa and highlight the potential for genetic research and personalized medicine on the continent. The goal was to improve the health of African populations and global communities while nurturing the careers of young African scientists in the field. Distinguished scientists from around the world shared their recent findings in genetics, immunogenetics, genomics, genome editing, immunotherapy, and ethics genomics. Precongress activities included a 2-day bioinformatics workshop, “NGS Analysis for Monogenic Disease in African Populations,” and a Young Investigators Forum, providing opportunities for young African researchers to showcase their work. The vast genetic diversity of the African continent poses a significant challenge in investigating and characterizing public health issues at the genetic and functional levels. Training, research, and the development of expertise in genetics, immunology, genomics, and bioinformatics are vital for addressing these challenges and advancing genetics in Africa. The AfSHG is committed to leading efforts to enhance genetic research, coordinate training, and foster research collaborations on the continent.