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.

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 related pathogenic mutations are not yet fully identified. We aimed to identify the causative mutations in the eyes shut homolog (EYS) gene in a cohort of

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: 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.

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. β-Catenin may be a good candidate gene for LA. We performed a genetic analyses to investigate the association between

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.

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

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