Egyptian Journal of Medical Human Genetics is the official journal of The Egyptian Societies of Medical Human Genetics.
Articles
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Citation: Egyptian Journal of Medical Human Genetics 2024 25:75
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Preliminary study: nutrigenomics analysis results of COVID-19 survivors
Numerous attempts have been made at both prevention and treatment of COVID-19. Specific genotypes carry a risk of causing clinical symptoms that can be beneficial or detrimental. We performed nutrigenomics tes...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:74 -
miR-146a and miR-155 as promising biomarkers for prognosis and diagnosis of multiple sclerosis: systematic review
Small RNA molecules known as microRNAs (miRNAs) regulate gene expression during the post-translational steps. miRNAs are essential for many physiological processes, such as cell division, growth, and prolifera...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:73 -
Novel TRPV6 variant linked with transient neonatal hyperparathyroidism
Hereditary transient neonatal hyperparathyroidism (TNHP) is a rare autosomal-recessive condition caused by variants in TRPV6 gene which encodes for a transient maternal–fetal calcium transport channel. This is...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:72 -
Deciphering the landscape of lncRNA-driven ceRNA network in schizophrenia etiology
The unifying hypothesis of competing endogenous RNA (ceRNA) wherein crosstalk between coding (mRNAs) and long non-coding RNAs (lncRNAs) via microRNA (miRNA) response elements, creates a pervasive regulatory ne...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:71 -
The potentials of nonlinear polarization with hyperspectral imaging of RNA for hepatocellular carcinoma early diagnosis
Most cancers acquire numerous genetic changes in proto-oncogenes as well as tumor-suppressor genes. Cancer's early diagnosis remains a challenge. Recently, nonlinear polarization has revealed the potential as ...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:70 -
VHL mutation as a cause of three generations familial pheochromocytoma
Pheochromocytoma is a rare disease, and its familial occurrence is quite uncommon. The aim of this paper is to report a three-generation phenotypical expression of a case familial occurrence of pheochromocytoma.
Citation: Egyptian Journal of Medical Human Genetics 2024 25:69 -
Causal associations between gut microbiota and chronic prostatitis/chronic pelvic pain syndrome: a two-sample Mendelian randomization study
Recent researches have increasingly indicated a strong correlation between the gut microbiota and chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS). Nevertheless, the impact of gut microbiota on CP/CP...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:68 -
Genetic analysis of BRPF1 exon deletion variant causing intellectual developmental disorder with dysmorphic facies and ptosis in a Chinese family
Intellectual developmental disorders with dysmorphic facies and ptosis (IDDDFP) are rare neurological conditions caused by variants in the BRPF1 gene. They primarily manifest as intellectual disabilities (ID) alo...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:67 -
Association of insertion/deletion (I/D) polymorphism of angiotensin-converting enzyme gene (ACE) with Parkinson’s disease and factors risk in eastern Algeria: case–control study
This study aimed to explore the relationship between Parkinson’s disease and insertion/deletion polymorphism (I/D) of the angiotensin-converting enzyme gene (ACE) and to highlight the related risk factors within ...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:66 -
Association of VEGF-2549I/D promoter polymorphism with gastrointestinal tract cancer risk: a meta-analysis
Gastrointestinal tract (GIT) cancers are complex disorders affecting millions of people worldwide. The vascular endothelial growth factor (VEGF) helps in the development of different GIT cancers by promoting a...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:65 -
Evaluation of the biomarker potential of miR-650 and miR-663b in tumor tissues and plasma specimens of colon cancer patients living in northwest of Iran
Colorectal cancer (CRC) is considered as one of the most common malignancy and the fourth leading cause of cancer-related deaths, worldwide. Here, we aimed to investigate the expression of miR–663b and miR–650...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:64 -
Evaluation of adropin, fibroblast growth factor-1 (FGF-1), and Toll-like receptor-1 (TLR1) biomarkers in patients with inflammatory bowel disease: gene expression of TNF-α as a marker of disease severity
Inflammatory bowel disease (IBD) is a chronic relapsing inflammatory disorder of unknown etiology and unpredictable course. The aim of the work was to assess the levels of adropin, fibroblast growth factor-1 (...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:63 -
Diagnostic biomarkers for ST-segment elevation myocardial infarction using RNA methylation regulators
Additional evidence has indicated a correlation between N6-methyladenosine (m6A) RNA methylation and cardiovascular disease. Nevertheless, the alterations in RNA methylation modification and the expression of ...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:62 -
Challenges in blood transfusion caused by anti-Hr0: A rare case of D-- Phenotype in Asia Abstract
D–Phenotype is linked to abnormal expression of RHCE gene. Consequently, individuals with this condition may develop antibodies against high-prevalence Rh antigens when exposed to a normal Rh phenotype, leading ...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:61 -
Insights into the structural and functional analysis of impact of the missense mutations on α-synuclein: an in silico study
Alpha synuclein (α-synuclein) is coded by SNCA gene and found in a helical form with phospholipids or in an unfolded arrangement in the cytosol and belongs to the synuclein family other than beta synuclein and...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:60 -
Identification of circRNA–miRNA–mRNA regulatory network associated to the autism spectrum disorder in children through integrated bioinformatics analysis
Autism spectrum disorder (ASD) is a complex neurological disability with multifactorial etiology. ASD is described by behavior, speech, language, and communication defects. CircRNA is a type of ceRNA that play...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:59 -
Genetic-driven biomarkers for liver fibrosis through bioinformatic approach
Liver fibrosis is a widespread chronic liver ailment linked to substantial mortality and limited therapeutic options. An in-depth comprehension of the genetic underpinnings of liver fibrogenesis is crucial for...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:58 -
Association of leptin–melanocortin gene polymorphisms with the risk of obesity in northwest Indian population
Obesity, a multifaceted endocrine issue, is adversely affecting all age groups and is posing a significant public health challenge. The genetic polymorphisms of the melanocortin 4 receptor (MC4R) and leptin (LEP)...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:57 -
A bioinformatics approach to reveal common genes and molecular pathways shared by cutaneous melanoma and uveal melanoma
Melanomas are highly aggressive in nature known for metastasis and death. Melanocytes that gave rise to melanomas are neural crest progenitor cells. Our research was primarily concerned with uveal melanoma (UM...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:56 -
Retinoic Acid-Induced 1 gene variants associated with Smith–Magenis syndrome circadian phenotypes enriched in autism spectrum disorder: whole-genome sequencing study
This study aimed to characterize the frequency of RAI1 genetic aberrations associated with Smith–Magenis syndrome (SMS), in a large cohort of autism spectrum disorder (ASD) whole-genome sequencing samples. We aim...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:55 -
ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review
Polymicrogyria is a spectrum of complex cortical malformations encompassing multiple subtypes. Of these, bilateral frontoparietal polymicrogyria (BFPP) has been associated with pathogenic variants in the ADGRG1 g...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:54 -
Association between genetic polymorphisms and other attributing factors with lipid profiles among statin users: a cross-sectional retrospective study
Statins are well known for their efficacy to improve lipid profiles. Their efficacy varies between individuals and can be modified by patient factors such as genetic polymorphisms. This study used a cross-sect...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:53 -
Exploring the potential of phytoconstituents from Phaseolus vulgaris L against C-X-C motif chemokine receptor 4 (CXCR4): a bioinformatic and molecular dynamic simulations approach
The CXCR4 chemokine receptor is a G protein-coupled receptor that plays a role in many physiological processes and diseases, such as cancer metastasis, HIV infection, and immune response. Because of this, it m...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:52 -
Turkish population-based screening for first identified changes of BRCA1 and BRCA2 genes in breast and/or ovarian cancer patients
It is known that BRCA1 and BRCA2 genes’ mutation carriers are predisposed to breast and ovarian cancers and other organ cancers such as prostate, colon and cervix. In the previous study performed at X University,...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:51 -
Artificial intelligence-driven enhanced skin cancer diagnosis: leveraging convolutional neural networks with discrete wavelet transformation
Artificial intelligence (AI) has shown great promise in the field of healthcare as a means of improving the diagnosis of skin cancer. The objective of this research is to enhance the precision and effectivenes...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:50 -
The potential anticancer effect of bee venom in combination with sorafenib against HepG2 cell lines via induction of apoptosis and autophagy candidate genes
Hepatocellular carcinoma (HCC) is a severe threat and a main reason for cancer-related deaths around the world. Drug resistance to sorafenib (Sorf), the effective HCC first-line therapy, is very common. A numb...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:49 -
The causal relationship between anxiety and tinnitus severity: a Mendelian randomization study
The link between anxiety and tinnitus severity has garnered significant scholarly interest, with numerous studies identifying a positive correlation. Despite this, the genetic basis of this relationship remain...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:48 -
Four microRNA gene polymorphisms are associated with Iraqi patients with colorectal cancer
Colorectal cancer (CRC) is a major cause to global cancer-related mortality. The development of colorectal cancer is linked to hereditary variables that exhibit variability.
Citation: Egyptian Journal of Medical Human Genetics 2024 25:47 -
Association of single nucleotide polymorphism at BMP2 gene with iron deficiency status among anaemic patients in Hospital Universiti Sains Malaysia
Iron deficiency contributes for over half of all anaemia cases, especially among women and children. Iron deficiency anaemia remains a serious public health concern worldwide. The aim of this study is to deter...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:46 -
Effectiveness of the application of an educational program based on the Theory of Planned Behavior (TPB) in adopting preventive behaviors among mothers who have thalassemia children in Iran: a randomized controlled trial
Thalassemia is one of the most common chronic diseases, which cause many problems for the patients, families, and health system. The aim of this study was to evaluate the effectiveness of the application of an...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:45 -
Prognosis and immunological characteristics of HDAC family in pan-cancer through integrative multi-omic analysis
The histone deacetylase (HDAC) family plays a significant role in a variety of biological processes related to cancer, such as metabolism and cancer progression, and recognized as a target of anti-cancer drugs...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:44 -
ACE I/D polymorphism in cognitive impairment and depression among North Indian adults: a pilot study
Cognitive impairment and depression are two common mental health conditions affecting millions worldwide. CI and depression both have complex etiology and multiple genetic and environmental factors are thought...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:43 -
Clinical impact of IDH1 mutations and MGMT methylation in adult glioblastoma
Impact of Isocitrate dehydrogenase1 (IDH1) and O6-methylguanine-DNA methyltransferase (MGMT) in glioblastoma (GBM) have been of great interest due to their implications in prediction of prognosis of several types...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:42 -
Genomic susceptibility to gastric cancer in Northwest Iran: population-based and case–control studies
The age-standardized incidence rate for gastric cancer is estimated to be 11.1% worldwide and 39.1% for Ardabil province in northwest Iran. Single nucleotide polymorphisms (SNPs) occur in coding and non-coding...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:41 -
Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management
Mowat-Wilson syndrome can be mentioned as one of the most severe and, at the same time, rare genetic abnormalities. The inheritance pattern of this disorder is an autosomal dominant pattern. In this disease, the
Citation: Egyptian Journal of Medical Human Genetics 2024 25:40 -
Potential biomarker signatures in male infertility: integrative genomic analysis
Studies have attributed 50% of infertility cases to male infertility, 15% of which is caused by idiopathic genetic factors. Currently, no specific biomarkers have been revealed for male infertility. Furthermor...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:39 -
The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus
Hydrocephalus is one of the most common pathophysiological disabilities with a high mortality rate, which occurs both congenitally and acquired. It is estimated that genetic components are the etiology for up ...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:38 -
Conventional and molecular cytogenetic characterization of a Moroccan patient with WAGR syndrome
WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is usually clinically associated with Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation (W-A-G-R)...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:37 -
Low heterozygosity for rs3811050, a 5 prime untranslated region variant of the gene encoding interleukin-38 (IL1F10), is associated with a reduced risk of systemic lupus erythematosus
Interleukin-38 (IL-38), an inflammatory cytokine discovered in recent years, has been implicated in the pathogenesis of systemic lupus erythematosus (SLE). IL-38 is encoded by the IL1F10 (interleukin 1 family mem...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:36 -
Germline variants in the Von Hippel-Lindau tumor suppressor gene in Cuban patients
Von Hippel-Lindau (VHL) syndrome is an autosomal dominantly inherited disorder that predisposes to multiple neoplasms. Patients may develop hemangioblastomas of the central nervous system and retina, multiple ...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:35 -
Exploring the interplay of MTHFR and FGG polymorphisms with serum levels of adiponectin and leptin in pediatric lupus nephritis: a pilot study
Adiponectin and leptin are pivotal in the regulation of metabolism. Pediatric lupus nephritis (pLN), a manifestation of childhood systemic lupus erythematosus (SLE) affecting the kidneys, is associated with im...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:34 -
Genetic factors and the role of pancreatic amylase in the pathogenesis of type 2 diabetes
This review article gives an insight into the genetic factors and the role of pancreatic amylase in type 2 diabetes (T2D). Diabetes is a non-communicable, multifactorial, heritable, complex, and irreversible d...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:33 -
Analysis of the CYP21A2 gene pathogenic variants in CAH patients from Surgut using next-generation sequencing (NGS)
21-hydroxylase deficiency is present in 90–95% of cases of congenital adrenal hyperplasia (CAH). Eleven major pathogenic variants account for 93% of all identified variants in the CYP21A2 gene in various clinical...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:32 -
Irreversible methadone-induced GSTP1 downregulation in SH-SY5Y cells
Methadone has been reported to downregulate the expression of glutathione S-transferase P1 (GSTP1) among nine antioxidant genes in SH-SY5Y cells after both short- and long-term treatment. GSTP1 plays a key role i...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:31 -
Technologies of gene editing and related clinical trials for the treatment of genetic and acquired diseases: a systematic review
Gene editing can produce irreversible permanent changes to the genetic material at predetermined sequences, avoiding random integration, which is the major drawback of classical gene therapy. The technology ha...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:30 -
Evaluation of expression levels of microRNA processing elements in patients with sudden sensorineural hearing loss
MicroRNAs have a significant role in the function and development of the hearing system. Idiopathic sudden sensorineural hearing loss (SSNHL) is a complicated disorder with no long-established reason. Since mi...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:29 -
Genotype-biochemical phenotype analysis in newborns with biotinidase deficiency in Southeastern Anatolia
Biotinidase deficiency (BTD) is characterized by a wide range of genetic variants. However, the correlation between these variants and the biochemical phenotypes of BTD is not well-established due to the diver...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:28 -
Consanguinity, complex diseases and congenital disabilities in the Souss population (Southern Morocco): a cross-sectional survey
Several studies showed that the perpetuation of consanguinity increases homozygosity and homogenizes the population's gene pool. This allows the expression of recessive deleterious mutations and increases the ...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:27 -
cxsAssociation study between single nucleotide polymorphism in thrombospondins THBS1 gene and THBS2 gene and coronary artery disease in Indian population
Coronary artery disease (CAD) is a complex medical condition characterized by atherosclerotic plaque accumulation in coronary arteries, leading to narrowed blood vessels and impaired blood flow. Endothelial dy...
Citation: Egyptian Journal of Medical Human Genetics 2024 25:26
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