Objective: Prostate cancer (PCa) is one of the leading causes of death by solid tumors in men, and autophagy plays an important role in tumor progression and treatment. This study was designed to construct and evaluate an autophagy-related prognosis model of PCa with long noncoding RNAs (lncRNAs).

Background: Prostate cancer (PC) is the second leading cause of cancer death after lung cancer in men. Current biomarkers are ineffective for the treatment and management of the disease. Long noncoding RNAs (lncRNAs) are a heterogeneous group of transcripts that are involved in complex gene expression regulatory networks. Although lncRNAs have been suggested to be promising as future biomarkers, the

Objective: To study the associations of single nucleotide polymorphisms (SNP) of the myosin heavy chain 6 (MYH6) gene with the risk of atrial fibrillation (AF) and warfarin anticoagulation therapy.

Background: The RANKL/RANK/OPG signaling pathway plays a critical role in osteoclastogenesis and bone remodeling. The associations between sequence variants of the osteoprotegerin (OPG) gene and osteoporosis risk have been widely investigated but remain inconclusive.

Aim: To develop magnetic nanoparticles (MNPs) based on iron oxide for DNA isolation from blood cells for quantitative molecular genetic analyses of the V617F mutation in the Januskinase 2 (JAK2) gene.

Background: Proprotein convertase subtilisin/kexin type 9 (PCSK9) is an enzyme in the family of proprotein convertases implicated in lipid metabolism and is a significant genetic risk factor in cardiovascular diseases among various populations.

Objectives: This study was designed to identify a messenger RNA (mRNA) expression signature to predict survival in patients with oral squamous cell carcinoma (OSCC).

Background: Variants in the HARS2 gene have been reported to be associated with nonsyndromic hearing loss (HL) and Perrault syndrome (PS), a rare recessive disorder marked by bilateral sensorineural HL and ovarian dysgenesis. Given the low number of pathogenic variants described in the HARS2 gene, no genotype/phenotype correlations have been established between variants in this gene and the clinical

Objective: To investigate the expression of B cell lymphoma-2 (Bcl-2) in lung cancer cells and the effect of the miR-1/Bcl-2 axis on the chemosensitivity of lung cancer.

Objective: To explore the associations of common mitochondrial DNA polymorphisms with chronic kidney disease (CKD).

Background and Aims: Outbreaks of severe and chronic tick-borne diseases (TBDs) are on the rise. This is through the transmission of infectious disease agents to humans during tick feeding. The transmission rate and extent of microbial exchange, however, vary based on the tick microbiome composition. While select microbes are determined to be members of the normal tick microbiome and others are clearly

Aims: HbE/β-thalassemia is the most prevalent form of severe β-thalassemia in Asian countries. Hydroxyurea (HU) is the most common drug used for the management of sickle-cell anemia but not thalassemia. In this study, we aimed to assess clinical HU response among the Bengali HbE/β-thalassemia patients with respect to the XmnI γGglobin polymorphism and elucidate the association between this polymorphism

Purpose: This study aimed to reveal the molecular differences in granulosa cells (GCs) from patients with endometriosis (EM).

Background:B7-H6, a newly discovered member of the immunoglobulin superfamily, exerts antitumor effects by binding to NKP30 receptor on natural killer cells; it has important clinical implications. Cell surface ectodomain shedding of B7-H6 generates soluble B7-H6 (sB7-H6), which is highly expressed and serves as a valuable biomarker in multiple tumors, but the clinical significance and diagnostic value

Background: Paclitaxel is a key antineoplastic agent in the treatment of breast cancer and many other malignancies. However, paclitaxel-induced peripheral neuropathy (PIPN) is a common adverse event that occurs with paclitaxel therapy and frequently causes considerable pain and a decline in patients' quality of life. Single nucleotide polymorphisms (SNPs) in the ABCB1 gene have been frequently associated

Background: Multiple osteochondroma (MO), an autosomal dominant genetic disease, is caused by heterozygous mutations in the EXT1 and EXT2 genes. Approximately 80% of pathogenic mutations are nonsense/missense mutations, small indels, and splicing mutations. Splicing mutations, particularly at the 3′ and 5′ splice sites, disrupt normal mRNA processing and cause exon skipping or aberrant splicing, ultimately

Objective: Breast cancer (BC), the most prevalent cancer in women, has been associated with several genetic factors, including the CYP19A1 rs700519 polymorphism; however, the conclusions have not been consistent. This case–control study and meta-analysis aimed to further assess the relationship between the CYP19A1 rs700519 polymorphism and BC susceptibility.

Abstract: Numerous studies investigating an association between the matrix metalloproteinase-1 (MMP-1) gene rs1799750 polymorphism and breast cancer (BC) risk have reported inconsistent results. Therefore, this meta-analysis was undertaken to obtain a more precise estimate of the possible association between this genetic locus and BC susceptibility.

Objective: This study was designed to analyze the expression of CSNK1D in hepatocellular carcinoma (HCC) and investigate the relationship between the expression of CSNK1D and the prognosis of HCC patients.

Objective: To study the correlations between the genotypic and allelic frequencies of the Sirtuin 1 (SIRT1) gene rs182180876, rs4746720, and rs2234975 loci and susceptibility to diabetic nephropathy.

Background: Familial exudative vitreoretinopathy (FEVR), a group of rare inherited retinal vascular disorders, is the major cause of vision loss in juveniles. At present, the diagnosis of FEVR remains difficult due to its clinical and genetic heterogeneities.

Background: Cystatin C (CSTC), a cysteine protease inhibitor, is found to be elevated in periodontal disease in an attempt to counterbalance the proteolytic enzymes and increased osteoclastic activity. Evidence on CSTC levels in periodontal health and disease has reported contradicting results, making its role as a biomarker in periodontal pathogenesis inconclusive.

Background: The aim of this study was to investigate associations between polymorphisms in the Lysyl oxidase (LOX) gene with susceptibility to cancer. The role of LOX in carcinogenesis prompted several association studies in various cancer types; however the outcomes of these studies have inconsistent. Thus, we performed a meta-analysis to obtain more precise estimates.

Background: Obesity is one of the most common metabolic disorders in the world, which develops due to an imbalance in energy consumption and expenditure, and both genetic and environmental factors are of great importance. We investigated the potential interactions of single nucleotide polymorphisms that might contribute to the development of polygenic obesity in children.

Background: Delta-chain (δ-chain) variants are a group of rare hemoglobin (Hb) variants resulting from mutations within the δ-globin gene. Although quantification of Hb A2 levels is a useful screening tool for the beta-thalassemia trait, the coinheritance of a δ-globin gene mutation can lead to misinterpretation of diagnostic results.

Aims: Many studies and researchers have reported on the genetic association between lipoprotein lipase (LPL) gene polymorphisms and myocardial infarction (MI). The results, however, have been inconclusive. Therefore, we assessed the relationship of LPL gene polymorphisms and MI risk by performing a meta-analysis.

Background: Meckel–Gruber syndrome (MKS; OMIM No. 249000) is a rare, in utero lethal disease characterized by occipital encephalocele, polycystic kidneys, and polydactyly.

Purpose: Familial exudative vitreoretinopathy (FEVR) is a blinding retinal vascular disease. Clinically, FEVR is characterized by incomplete vascularization of the peripheral retina and pathological neovascularization. Only about 50% of FEVR cases can be explained by known FEVR disease gene variations. This study aimed to identify novel genes associated with the FEVR phenotype and explore their pathogenic

Aim: The aim of this study was to explore the possible associations between single nucleotide polymorphisms (SNPs) and DNA methylation levels of seven genes in the inflammatory response pathway with susceptibility to chronic periodontitis (CP) among the Uighur population of the Xinjiang Autonomous Region of China.

Background: The molecular biological mechanism of tubal factor infertility (TFI) is still unclear. Long noncoding RNAs (lncRNAs) are considered a major part of the competitive endogenous RNA (ceRNA) network and have attracted growing attention. Our study aimed to explore the regulatory mechanisms of lncRNAs associated with TFI and screen potential key genes related to TFI.

Background: Vascular endothelial growth factors (VEGFs) are important for glioblastoma multiforme (GBM) growth and development. However, the effects of VEGF-targeting drugs in primary GBM remain poorly understood.

Introduction:TP53 (tumor protein p53) is one of the most commonly mutanted genes in lung adenocarcinoma (LUAD).

Background: Idiopathic congenital talipes equinovarus (ICTEV) is one of the most common congenital deformities of children, and dysplasia of the striated muscle may be one of the causes of ICTEV. Previous studies have shown that polymorphisms of the rs4075583 SNP in the tropomyosin gene 1 (TPM1) were associated with ICTEV in Caucasian children. However, there are no studies investigating the correlations

Background: Multiple osteochondromas (MO) are an autosomal-dominant disease characterized by the growth of multiple cartilage-capped prominences in the growth plate region of the metaphysis in long and flat bones.

Objective: This study investigated the association of the TaqI (rs731236 T>C) polymorphism in the VDR gene with dental caries.

Background: As the demand in genetic testing increases, various fields look toward collection methods that are noninvasive and efficient in recovering deoxyribonucleic acid (DNA) for testing that will allow for high first-pass success rates.

Objective: This study aimed to clarify the association of MAFK polymorphisms (rs4268033, rs3735656, and rs10226620) with the degree of gastric mucosal atrophy and CDKN2A CpG methylation status.

Background: The elevated global burden of the breast invasive carcinoma (BRIC) and lack of appropriate biomarkers for its early detection and treatment requires extensive investigation to enhance understanding regarding BRIC associated molecular alterations. Ataxia telangiectasia mutated (ATM) is a multifunctional tumor suppressor gene, which participates in the DNA damage response pathway and cellular

Background and Aim: In 10–30% of colorectal cancer (CRC) patients, toxic reactions occur after fluoropyrimidine-based chemotherapy. A dihydropyridine dehydrogenase (DPYD) gene variant, c.1905 + 1G>A, leads to intolerance to fluoropyrimidines. Due to the low frequency of this variant in many populations, the prevalence of fluoropyrimidine-induced hematologic side effects in CRC patients with the c.1905 + 1G>A

Background: Gastric cancer (GC) is associated with a high mortality rate. Long noncoding RNA (lncRNA)-high expressed in hepatocellular carcinoma (HEIH) has recently gained interest as a marker for the detection of several cancer types. This study was designed to uncover the function of lncRNA-HEIH in GC.

Background and Aim: Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive inheritance caused by homozygous SMN1 deletions. Although SMA has been considered as incurable, newly developed drugs improve life prognoses and motor functions of patients. To maximize the efficacy of the drugs, SMA patients should be treated before symptoms become apparent. Thus, newborn screening

Aim: Circulating microRNA-21 (miR-21) has been utilized as a diagnostic tool in the assessment of heart failure (HF). Blood constitution may be altered when HF occurs and miR-21 may affect hematopoiesis. Sample hemolysis may influence the determination of circulating miRNAs, challenging the diagnostic use of miRNAs.

Background: Colon cancer (CC) is an immunogenic tumor and immune-targeting disease. In this study, we analyzed differentially expressed genes (DEGs) from the expression profile data in CC of The Cancer Genome Atlas.

Background:E2F5 is a transcription factor that is overexpressed in the early stages of ovarian cancer and has been suggested as a potential biomarker for early detection. In this study, we aimed to examine the role of E2F5 in invasion and proliferation of ovarian cancer cells.

Objective: To study the association of transforming growth factor β1 (TGF-β1) gene single nucleotide polymorphisms (SNPs) and plasma TGF-β1 levels with susceptibility to sepsis.

Background: The association between dysregulated microRNAs (miRNAs) and acute myeloid leukemia (AML) is well known. However, our understanding of the regulatory role of miRNAs in the cytogenetically normal AML (CN-AML) subtype pathway is still poor. The current study integrated miRNA and mRNA profiles to explore novel miRNA–mRNA interactions that affect the regulatory patterns of de novo CN-AML.

Background: The Wnt/β catenin pathway promotes bone mineralization stimulating proliferation, differentiation, and survival of osteoblasts; it also inhibits osteoclast differentiation and osteocyte activity. Sclerostin (SOST) and Dickkopf 1 (DKK1) are Wnt/β catenin pathway inhibitors. Genetic variability in the expression of SOST and DKK1 might be involved in the development of postmenopausal osteoporosis

Background: Muscular dystrophies are a heterogeneous group of inherited disorders that cannot be diagnosed clinically due to overlapping clinical phenotypes. Whole-exome sequencing is considered as the diagnostic strategy of choice in these cases. In this study we aimed to determine the mutational spectrum of multiplex ligation-dependent probe amplification (MLPA)-negative muscular dystrophy patients

Background: Differential expressions of cancer-associated genes, including histone deacetylases (HDACs), were identified in distinctive molecular subtypes of breast cancer. Compared with hormone receptor-positive breast cancer, triple-negative (TNBC, ER−PR−HER2−) is the most aggressive form of breast cancer.

Aims: To assess the expression and epigenetic regulation of Syncoilin, intermediate filament protein (SYNC) in gastric cancer tissues, and to determine its associations with clinicopathological features; immune infiltration of macrophages in tumors; and patient survival.

Introduction: Alpha- and beta-thalassemia are caused by reduced or absent synthesis of hemoglobin (Hb) subunits α and/or β. HBA2, HBA1, and HBB mutations are the main cause of thalassemias. The aim of this article is to analyze molecular and hematological features of α- and β-thal in a cohort of Mexican patients.

Coronavirus disease 2019 (COVID-19) displays a broad spectrum of clinical presentations ranging from lack of symptoms to severe multiorgan system complications and death. Various laboratory assays have been employed in the diagnosis of COVID-19, including: nucleic acid-based tests; antigen tests; and serum testing for anti-severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) antibodies. The