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

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.

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

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.

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

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

Background: The multifunctional cytokines of the tumor necrosis factor (TNF) family have been found to be involved in the promotion of inflammatory responses, and 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

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.

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, screening can prevent new cases. The aim of the current study was to present the development of a new, quantitative, real-time

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.

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.

Objective: To analyze the association between a single nucleotide polymorphism (SNP) in the 3′ untranslated region (UTR) of the phosphatase and tensin homolog (PTEN) gene, that is within a microRNA (miRNA) binding site, and the risk of Chinese Han cervical cancer.

Objective: To investigate any associations between the single nucleotide polymorphisms (SNPs) at the interleukin-6 (IL-6) rs1800796, interleukin-10 (IL-10) rs1800896, and the tumor necrosis factor-alpha (TNF-α) rs1800629 loci with gestational diabetes mellitus (GDM) susceptibility.

Aims: To determine the association between collagen type IV alpha 6 (COL4A6) expression levels and prostate cancer invasion and metastasis.

Background: Obesity and insulin resistance are common features accompanying polycystic ovary syndrome (PCOS).

Aim: We analyzed the frequencies of the rs222749 G>A, rs222747 G>C, rs224534 G>A, and rs8065080 C > T polymorphisms in the TRPV1 gene and their relationships with biomarkers in a Mexican population.

Background: Osteoarthritis (OA) is a complex degenerative joint disease that is associated with both genetic and environmental factors. The AKNA gene, located at 9q32, has recently been identified as being associated with knee osteoarthritis (KOA) in the Mexican population. Our aim was to investigate the relationship of common variants in this gene with the risk of KOA in a large Han Chinese population

Purpose: Type 2 diabetes mellitus (type 2 DM) and periodontitis encompass vascular endothelial changes. Endocan, a marker of endothelial dysfunction, has not been previously evaluated in diabetic patients with periodontal disease. This study was designed to evaluate the levels of endocan and tumor necrosis factor-alpha (TNF-α) in chronic periodontitis (CP) subjects with type 2 DM before and after nonsurgical

Aims: Hypothalamic-pituitary-adrenocortical axis gene polymorphisms have been reported to affect aggressive behavior. Corticotropin releasing hormone binding protein (CRHBP) polymorphisms have been shown to contribute to the susceptibility to stress-related disorders, including aggressive behavior. However, no study has been conducted on the relationship between CRHBP polymorphisms and aggressive behavior

Aims: The present study was designed to evaluate whether the expression of the suppressor of cytokine signaling 3 (SOCS3) gene could serve as a biomarker to predict the risk of acute myocardial infarction (AMI).

Introduction: Polymorphisms in the CETP gene promoter have been associated with cardiovascular risk and lipid alterations; however, their role in the development of hypertension has not been extensively explored. We evaluated four polymorphisms of the CEPT gene -827C>T, -631C>A, -630C>A, and -629C>A in patients with essential hypertension (EH).

Preeclampsia is a multisystemic disorder that occurs in 5–8% of pregnant women and remains a leading cause of both maternal and fetal morbidity and mortality. The disease is characterized by the abnormal vascular response to placentation, but the exact pathophysiology and pathogenesis of preeclampsia remain unknown. Risk factors for preeclampsia include increased maternal age, obesity, multiple gestations

Aims: To analyze the association of polymorphisms in the ADAM12 (rs3740199 and rs1871054) and TGFB1 (rs2073508) genes with knee osteoarthritis (KOA) in a population from northern Mexico.

Background: The human papillomavirus (HPV) is the most frequent etiological agent driving development of cervical cancer (CC); therefore typing and classifying the status of these infections are of great importance for treatment. The frequency of the various HPV types may change in relation to low-grade lesions and have the potential to cause more severe lesions.

Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means of gene copy number quantification of short stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY in newborns.

Aims: The present study was designed to survey the associations between polymorphisms of the common single nucleotide polymorphism (SNP) rs4938723 in the miR-34b/c gene, as well as the rs3746444 SNP in the miR-499 gene, and impairment of spermatogenesis leading to oligospermia and azoospermia in the Chinese population.

Aim: To explore the association of the COMT gene polymorphisms (rs4680, rs737866, and rs933271) with the response to methadone maintenance treatment (MMT) among Chinese opioid-dependent patients.

Aim: To determine the differences in the frequencies of polymorphic variants at the rs4244285(*2), rs4986893 (*3), rs12248560 (*17), loci of the CYP2C19 gene, and the rs2305948 locus of the VEGFR-2 gene in patients receiving clopidogrel treatment as part of a 30-day clinical outcome trial in the Russian and Buryat regions of East Siberia.

Background: Otosclerosis (OTSC) is a genetically heterogeneous disorder, characterized by abnormal bone growth in the middle ear, affecting the stapes bone. Previous studies have shown that single nucleotide polymorphisms (SNPs) of the COL1A1, BMP2, and BMP4 genes are linked to susceptibility of OTSC, musculoskeletal degenerative diseases, and bone remodeling.

Objective: To analyze the association of single nucleotide polymorphisms (SNPs) in the long-chain noncoding RNAs (lncRNAs) H19 and maternal expressed gene 3 (MEG3) with the risk of osteoarthritis (OA) in a Chinese Han population.

Background: Hepatocellular carcinoma (HCC) is one of the leading causes of cancer-related deaths worldwide. Patients suffering from HCC are usually diagnosed during an advanced stage, which limits the effectiveness of treatment. This phenomenon has led to an urgent need to discover promising HCC diagnostic biomarkers and to identify novel targets for HCC treatment.

Background and Objective: Recently, AMP-activated protein kinase (AMPK) signaling was confirmed to be intimately associated with atherosclerosis. Evidence indicates that genetic susceptibility plays an important role in the etiology of symptomatic intracranial atherosclerotic stenosis (sICAS), however few genes have been pinpointed being etiologically associated. This study investigated possible links

Background: Lung cancer is the leading cause of cancer-related deaths worldwide, imposing an enormous economic burden on society. Several studies have identified a link between the genetic polymorphisms in vitamin D pathways and lung cancer risk; however, the results remain inconclusive. The aim of this study was to estimate the effect of polymorphisms in the vitamin D receptor (VDR) and GC genes on

Aims: Genomic studies play a major role in variant observations between and within populations and in identifying causal relationships between genotypes and phenotypes. Analyses using databases such as gnomAD can provide insight into the frequencies of alleles in large populations. There have been reports that detail such frequencies for several countries and ethnic groups, but as yet, there are no

Aims: To determine the clinical characteristics and genetic cause of Waardenburg syndrome type 1 (WS1) in a Chinese family.

Background: The metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) gene's rs664589 locus is located within the binding site of the miRNA hsa-miR-194-5p for its cognate long-chain noncoding RNA (lncRNA) MALAT1. The aim of this study was to investigate the association between the rs664589 single nucleotide polymorphism (SNP) and the risk and prognosis of colorectal cancer (CRC) in the Chinese

Background: Systemic Sclerosis (SSc), also known as scleroderma, is an autoimmune rheumatic disease, which is clinically subdivided into two major subgroups; limited (lcSSc) and diffuse cutaneous scleroderma (dcSSc). Even though the SSc etiologies remains unclear, some HLA and non-HLA genetic variants have been associated with the disease.

Objective: We aimed to study the relationship between single nucleotide polymorphisms (SNPs) in the 3′-untranslated region of the nuclear factor-kappaB (NF-κB) gene NFKB1 and the risk of acute kidney injury (AKI) in sepsis.

Aims: This study investigated the presence of human papillomavirus (HPV) infection and the methylation status of the promoters of the cell adhesion molecule 1 (CADM1) gene and T lymphocyte maturation associated protein (MAL) gene in patients with cervicitis/inflammation and cervical intraepithelial neoplasia (CIN).

Purpose: The methylene tetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, and the methionine synthase reductase (MTRR) A66G polymorphisms are the three most common folate metabolism-related loci in the Chinese population, associated with numerous birth defects or congenital diseases. To facilitate screening and genetic counseling, we established a method for the simultaneous detection of these

Objective: Lipoprotein-associated phospholipase A2 (LP-PLA2) is closely related to the development of atherosclerosis. The A379V gene polymorphism, located in exon 11 of the PLA2G7 gene, can affect LP-PLA2 levels and the inflammatory response. However, the association between the A379V polymorphism and formation of carotid plaques is unclear. Materials and Methods: A total of 516 ischemic stroke patients

Objective: Hypertension is a disease caused by both genetic and environmental factors. In the present study, we analyzed the association of the lung cancer adenocarcinoma metastasis-associated gene 1 (MALAT1) gene rs664589 locus single nucleotide polymorphism (SNP) with the risk of essential hypertension and explored its possible mechanisms. Materials and Methods: We analyzed the genotype of the MALAT1

Introduction: Zinc finger homeobox 4 (ZFHX4) is a crucial molecular regulator of tumor-initiating stem cell-like functions. Objective: This study aimed to determine the role of ZFHX4 in the progression of ovarian serous cystadenocarcinoma (OSC). Methods: Differential gene expression among low-stage (stages I and II), high-stage (stages III and IV), low-grade (grades I and II), and high-grade (grades

Background: To study the effect of single nucleotide polymorphisms (SNPs) in the thymidylate synthase (TYMS) gene for their value in predicting the efficacy of raltitrexed treatment combined with transcatheter arterial chemoembolization (TACE) for the treatment of primary hepatocellular carcinoma (HCC) cancer. Methods: We conducted a genotypic analysis of the TYMS SNPs rs2790, rs8423, rs502396, rs699517

Objective: Carotid atherosclerosis is one of the major risk factors for ischemic stroke. Presence of carotid plaque has been widely used to assess the risk of clinical atherosclerotic disease. Lectin-type oxidized LDL (low-density lipoprotein) receptor 1 (LOX-1), lysosomal acid lipase (LAL), and acyl-CoA:cholesterol acyltransferase 1 (ACAT1) are important for lipid accumulation in atherosclerosis.

Background: Human β-defensin-2 is an antimicrobial weapon peptide with antibiotic properties secreted by the oral cavity to protect the host against microbial attack. The interindividual differences of defensin expression profiles due to genetic variation might be partly responsible for differences in disease susceptibility. Aims: The objective of this study was to examine whether variation in the

Aims: To investigate the immune and gastrointestinal functional effects of lienal polypeptide (LP) treatment in tumor-bearing mice and carcinoma patients receiving radiotherapy (RT), and to detect hematological indicators and T lymphocyte subsets. Methods: Tumor-bearing mice were randomly divided into five groups: the control group, the RT group, the RT+LP-L (1.7 mg/kg, low dosage of LP) group, the

Background: Osteosarcoma (OS) is a malignant tumor disease with high morbidity and mortality in children and adolescents. Recently, attention has been focused on the effects of long noncoding RNAs (lncRNAs) on tumor biology. In this study, we identified the role of lnc-SERTAD2-3 in the development of OS. Materials and Methods: Sixty OS samples and adjacent tissues were collected to determine the relationship