Objective: The aim of this study was to use bioinformatic analyses to identify key genes and pathways driving gastric cancer (GC).

Aim: Toll-like receptor 9 (TLR9) can recognize the DNA fragments released from chemotherapy-treated cancer cells in tumor tissues and induce an inflammatory response. The aim of the present study was to evaluate the survivability benefit of TLR9 expression levels as a potential prognostic marker in breast cancer patients treated with neoadjuvant chemotherapy (NACT).

Objective: To investigate the correlation between the Dopamine D3 receptor (DRD3) 3′untranslated region (3′UTR) gene polymorphism and susceptibility to Parkinson's disease (PD) and the clinical effect of the DRD2 and DRD3 agonist piribedil treatment.

Objective: The long-chain noncoding RNA (lncRNA) TINCR has been associated with the development and progression of bladder cancer. In this study, we analyzed the correlation between lncRNA TINCR single-nucleotide polymorphisms (SNPs) and bladder cancer susceptibility risk.

Introduction: Cell-free DNA (cfDNA) methylation is an important molecular biomarker, which provides information about the regulation of gene expression in the tissue of origin. There is an inverse correlation between SOST gene methylation and expression levels.

Background: Previous studies have indicated that both genetic and environmental factors contribute to the risk of congenital talipes equinovarus (CTEV). The COL9A1 gene encodes one of the three alpha chains of type IX collagen, which is a key collagen component of hyaline cartilage. Our study aimed to evaluate the effect of COL9A1 gene polymorphisms on susceptibility to CTEV in the Han Chinese population

Background: The human angiotensin I converting enzyme 1 (ACE1) gene insertion/deletion (I/D) polymorphism is classified based on the presence or absence of a 287 bp Alu sequence. The ACE1 D allele is associated with higher ACE1 concentrations in tissues. Previous research has shown that susceptibility to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is primarily determined

Objective: Osteogenesis imperfecta (OI) includes a group of disorders characterized by susceptibility to bone fractures with different severities. The increasing number of genes that may underlie the disorder, along with the broad phenotypic spectrum that overlaps with other skeletal diseases, provided a compelling case for the use of high-throughput sequencing (HTS) technology as an aid to OI diagnoses

Aims: We analyzed and compared the gene expression profiles (GSE92763) from normal melanocytes with malignant melanoma cell lines to identify genes that were differentially expressed that could serve as potential biomarkers for melanoma diagnosis.

Aims: Pathogenic variants in mitochondrial DNA are known to be associated with sensorineural hearing loss (SNHL) and aminoglycoside-induced HL. Among them, the m.1555A>G mutation is the most common. Thus, a rapid and easy companion diagnostic method for this mutation would be desirable to prevent HL caused by aminoglycoside therapy. In this study, we report an improved protocol for the single-stranded

Objective: Pancreatic cancer (PC) is a serious disease with poor outcomes, and its prevalence has been increasing steadily. The circadian rhythm (CR) is involved in multiple physiological events and maintains homeostasis. Alterations in the CR elevate the risk of developing cancer. The present case–control research was carried out to estimate the possible association between PERIOD2/PERIOD3 (PER2/PER3)

Objective: To study the relationships between single nucleotide polymorphisms (SNPs) in the intron of the tumor necrosis factor α (TNFα) gene and the susceptibility and severity of disease associated with adenovirus infection in children.

Background: Osteoarthritis (OA) is a complex joint disorder characterized by sclerosis of subchondral bone. The knee is one of the most commonly affected joints. Given that the genetic mechanisms underlying knee OA remain elusive, our study aims were to first confirm the association of the TGFA gene alleles with the risk of knee OA and, second, to evaluate the relationship between peripheral TGFA concentrations

Objective: To evaluate the prognostic value of driver mutations in the KRAS, CDKN2A/P16, TP53, and SMAD4 genes in pancreatic cancer to aid in the design of therapeutic strategies.

Objective: Osteonecrosis of the femoral head (ONFH) is a severe pathological state with multiple etiologies. Steroid hormone metabolism-related genes play an important role in ONFH. The aim of this study was to investigate the relationships between polymorphisms of the drug-metabolizing enzyme gene, cytochrome P450 (CYP450), and the drug transporter gene, ATP-binding cassette subfamily B member 1 (ABCB1)

Background: Hypoxia inducible factor-1α (HIF-1α) and vascular endothelial growth factor (VEGF) are key angiogenic regulatory factors. The aim of this study was to identify the most useful prognostic angiogenic factors in advanced nonsmall cell lung cancer (NSCLC) without known driver gene mutations.

Background: Upper gastrointestinal tract cancers are the leading causes of cancer-related deaths in Northwest China and they share many similarities in terms of histological type, risk factors, and genetic variants. We hypothesized that shared common single-nucleotide polymorphisms (SNPs) in the p53 pathway exist between patients with gastric and esophageal cancer (EC) patients.

Background: Previous evidence has suggested that norepinephrine transporter (NET) gene (solute carrier family 6, member 2 [SLC6A2]) polymorphisms are involved in antidepressant response. Specifically, the polymorphism T-182C (rs2242446) located in the promoter region of SLC6A2 has been found to be associated with antidepressant response in multiple ethnic backgrounds. However, the results are inconsistent

Aims: The aim of this study was to examine the RNA and protein expression levels and clinical significance of the pore membrane protein 121 kDa (POM121) in lung cancer.

Aims: The selenoprotein S (SELS) gene has been suggested to be an important factor in the development of multiple diseases, including gastric cancer (GC) and colorectal cancer (CRC). However, the association between the SELS gene rs34713741 polymorphism and risk of GC and CRC is inconclusive. Thus, we aimed to investigate the relationship between this polymorphism and the susceptibility to GC and CRC

Background: Colorectal cancer (CRC) rates are affected by genetics, ethnicity, and environmental factors; it is considered one of the most aggressive human malignancies with high mortality and morbidity rates worldwide due, in part, to its asymptomatic nature during the early stages of disease.

Background: Circular RNAs (circRNAs), a type of noncoding RNA, are associated with the occurrence and development of cancers. In recent years, their potential as biomarkers for bladder cancer (BC) has attracted increased attention.

Aims: Heterogeneous nuclear ribonucleoprotein A2/B1 (hnRNPA2/B1) is highly expressed in multiple types of tumor tissues and could potentially be used as a biomarker for the early detection of lung cancer. However, there is little evidence supporting its clinical significance as a prognostic marker in breast cancer.

Aim: Blood–brain barrier (BBB) disruption is the primary initiating cause of cerebral small-vessel diseases including leukoaraiosis (LA). β-Catenin is a key regulator of the BBB and plays an important role in cell–cell adhesion at adherens junctions by interacting with cadherin molecules. Thus, β-Catenin may be a good candidate gene for LA. We performed a genetic analyses to investigate the association

Objective: Although genetic variants of key enzymes in the folic acid-methionine metabolic circulation, including methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) were thought to be related to the risk of recurrent pregnancy loss (RPL), the results of recent studies have been inconsistent. Therefore, the present retrospective case–control study was designed to explore

Objectives: Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial malformations observed across the globe. They are classified into three types: (a) cleft palate, (b) cleft lip, and (c) cleft lip and palate. To identify the potential candidate genes contributing to polygenic diseases such as NSOFC, linkage analyses, genome-wide association studies, and genomic rearrangements can be

Background: We aimed to evaluate the association between the vascular endothelial growth factor (VEGF) gene +936C>T polymorphism and digestive system tumors using a meta-analysis.

Purpose: Retinitis pigmentosa (RP) is an inherited and progressive degenerative retinal disease that often results in severe vision loss and blindness. However, mutations in known RP disease genes account for only 60% of RP cases, indicating that there are additional pathogenic mutations are yet to be identified. We aimed to identify the causative mutations in the eyes shut homolog (EYS) gene in a

Aims: The 5HTT gene has been associated with obesity; this study aimed to determine the association between L- and S-alleles at the 5HTTLPR polymorphism with obesity in indigenous Mexican populations.

Background: Spinal muscular atrophy (SMA) is traditionally molecularly diagnosed by multiplex ligation-dependent probe amplification or quantitative polymerase chain reaction (qPCR). SMA analyses are not routinely incorporated into gene panel analyses for individuals with suspected SMA or broader neuromuscular indications.

Background: Mutations within the myotubularin-related protein 9 gene (MTMR9) have been identified in several families with nonsyndromic intellectual disability (NSID), a generalized neurodevelopmental disorder; however, the relationship between MTMR9 and NSID needs to be verified using a larger sample size.

Background: Recent discoveries indicate that the enzyme fatty acid 2-hydroxylase (FA2H) is associated with biological behavior and can be used for outcome prediction in several types of cancers. Such relevancy, however, between FA2H and ovarian cancer is not clear. Therefore, we carried out this study to compare the expression of FA2H with the clinicopathological features of ovarian cancer.

Background: Multiple studies have explored the prognostic role and clinical significance of the expression of the programmed cell death-1 (PD-1) gene in hepatocellular carcinoma (HCC). However, the results have been inconsistent. This study evaluated PD-1 expression and its clinical significance in patients with HCC, as well as the correlation between HCC pathological features and prognoses.

Objective: Our study was designed to determine if the TRPM1 gene is associated with any of three mental disorders. The project included a cross disorder meta-analysis and association analysis including 141701 cases and 175248 controls.

Background: Allergic diseases, including asthma, atopic dermatitis, allergic rhinitis, and food allergies, are caused by both environmental and genetic factors. The allergic condition, where genetic factors make up the largest proportion (up to 95%), is asthma.

Aims: Tacrolimus has extensive pharmacokinetic variability among patients and a narrow therapeutic window. The U.S. Clinical Pharmacogenetics Implementation Consortium recommends a starting dose for tacrolimus of 0.15–0.3 mg/kg/day, which is much higher compared with 0.05–0.15 mg/kg/day used in China. The purpose of this study was to investigate the influence of clinical factors and single nucleotide

Background: Hearing loss (HL) is one of the most common and genetically heterogeneous sensory disorders in humans. Genetic causes underlie 50–60% of all HL and the majority of these cases exhibit an autosomal recessive model of inheritance.

Aims: The intronic single nucleotide polymorphism rs1327235 (A>G) close to the JAG gene has been implicated to be involved in blood pressure physiology in a genome-wide association study. We wanted to study whether it was associated with hypertension and coronary artery disease (CAD) in the Tampere adult population cardiovascular risk study.

Aim: To derive a more precise association between the interleukin-1 beta (IL-1B) gene polymorphism rs1143623 and cancer risk.

Background: Chronic heart failure (CHF) is a major health burden worldwide, but there are a lack of effective methods for its early diagnosis and prognostic evaluation. Circular RNAs (circRNA), as a class, have been found to regulate gene expression and are implicated in multiple types of diseases. The circRNA, CDR1as, is reported to regulate gene transcription by acting as a microRNA inhibitor. However

Background: Numerous studies, ranging from the alleviation of tissue ischemia to the assessment of cancer prognosis, have demonstrated the fundamental biological differences between human umbilical cord blood-derived endothelial progenitor cells (CB-EPCs) and adult peripheral blood-derived endothelial progenitor cells (PB-EPCs). However, the underlying molecular mechanisms that produce these differences

Aims: Nondiabetic patients were studied to determine whether modest elevations in plasma mannose may be associated with a greater incidence of coronary artery disease (CAD).

Background:HFE p.C282Y (chromosome 6p22.2; exon 4, c.845G>A; rs1800562), a hemochromatosis-associated polymorphism in European Americans, is absent in sub-Saharan West African blacks.

Aim: Spinal muscular atrophy (SMA) is an inherited, autosomal recessive neuromuscular disease that causes high morbidity and mortality. The prevalence is 1–2/100,000, while the incidence is 1/6000–1/10,000 among live births. Due to the high carrier frequency (1/40–1/60) of SMA-associated alleles, screening can prevent new cases. The aim of the current study was to present the development of a new,

Background: Arginase I, encoded by the ARG1 gene, is an enzyme that catalyzes the conversion of arginine to ornithine in the urea cycle; mutations in this gene has recently been reported to be associated with dilated cardiomyopathy (DCM) in Pakistan. The present study aimed to investigate the relationship between ARG1 gene mutations and DCM in the Han Chinese population.

Background: The multifunctional cytokines of the tumor necrosis factor (TNF) family have been found to be involved in the promotion of inflammatory responses, and to play critical roles in the pathogenesis of inflammatory, autoimmune, and malignant diseases. The aim of the present study was to assess the associations among the TNFα −238 G > A (rs361525), TNFα −308 G > A (rs1800629), and TNFβ +252 A>G

Aims: Split-hand/split-foot malformation (SHFM) is a developmental and congenital limb malformation characterized by variable degrees of medial clefting or absence of one or more digits in hands and/or feet. The aim of this study was to identify the underlying cause of three consanguineous Pakistani families showing various types of SHFM-related features.

Aim: Two missense variants in the HFE gene, c.845G>A (p.Cys282Tyr) and c.187C>G (p.His63Asp), are commonly screened as part of the diagnostic workup for HFE-related hereditary hemochromatosis (HH) and iron overload. Identification of the two variants can be achieved by polymerase chain reaction (PCR)-based laboratory tests and other methods. Evaluation of the analytical performance of the test is essential

Background: Multiple lines of evidence have suggested that genetic factors may contribute to steroid-induced osteonecrosis of the femoral head (SONFH). Complement receptor 2 (CR2), constituting a family of regulators of complement activation, has been recently reported to be associated with osteonecrosis of the femoral head (ONFH) in Koreans. The aim of this study was to evaluate the relationships

Purpose: The aim of this study was to investigate the relationship between single nucleotide polymorphisms (SNPs) within the 3′ untranslated region of the microRNA (miRNA)-binding site of the ADAM metallopeptidase with thrombospondin type 1 motif 5 (ADAMTS5) gene and the risk of knee osteoarthritis (KOA) and its mechanism.

Aims: Identification of genetic mutations linked to hereditary multiple osteochondromas (HMO) is crucial for understanding the molecular mechanisms leading to disease pathogenesis. In this study, we investigated four patients and eight healthy individuals from a family with HMO.

Background: Inflammatory breast cancer (IBC) is a rare type of breast cancer with poor prognoses, moreover its pathogenesis is not entirely clear. The aim of this study was to identify key genes of IBC, which might serve as diagnostic biomarkers and/or therapeutic targets.

Background: Studies investigating the relationship between polymorphisms of the sex hormone-binding globulin (SHBG) gene and polycystic ovary syndrome (PCOS) have reported differing results. Therefore, the present meta-analysis was performed to clarify the effects of the SHBG rs6259 and rs727428 polymorphisms on PCOS risk.

Background and Aims: Interleukin-15 (IL-15) is a key player in the pathogenesis of celiac disease (CD). We investigated the functional role of IL-15 in the process of epithelial cell phenotypic modification at different stages of CD.

Objective: Serum/glucocorticoid regulated kinase is a serine/threonine kinase that is involved in regulating cell proliferation, apoptosis, the cell cycle, and ion channel function. The aim of this study was to analyze the relationship between single nucleotide polymorphisms (SNPs) in the microRNA (miRNA) binding site of the SGK3 gene and the risk of nasopharyngeal carcinoma (NPC).

Background: Renal agenesis (RA) is one of the most severe congenital anomalies of the kidney and urinary tract; it is known to be highly genetically heterogeneous. The purpose of this study was to explore the clinical significance of genetic diagnostics in a Chinese RA family.

Aims: Fragile-X syndrome (FXS) is the most common inherited form of intellectual disability; it is caused by an abnormal CGG-repeat expansion at the FMR1 gene. However, a few cases of girls with mutations in the FMR1 gene have been reported in the literature. In this study, we describe the clinical and genetic assessment of a family who exhibits the unusual coexistence of FXS, an 8p23.1 deletion, and