3,529 results match your criteria 3'utr polymorphisms


SNCA 3' UTR Genetic Variants in Patients with Parkinson's Disease.

Biomolecules 2021 11 30;11(12). Epub 2021 Nov 30.

Department for Functional Genomics, Center for Translational and Clinical Research, University of Zagreb School of Medicine, University Hospital Center Zagreb, 10000 Zagreb, Croatia.

The SNCA (Synuclein Alpha) gene represents a major risk gene for Parkinson's disease (PD) and SNCA polymorphisms have been associated with the common sporadic form of PD. Numerous Genome-Wide Association Studies showed strong signals located in the SNCA 3' UTR (untranslated region) region indicating that variants in 3' UTRs of PD-associated genes could contribute to neurodegeneration and may regulate the risk for PD. Genetic variants in 3' UTR can affect miRNA activity and consequently change the translation process. Read More

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November 2021

Primary Age-Related Tauopathy (PART) in a Finnish Population-Based Study of the Oldest Old (Vantaa 85+).

Neuropathol Appl Neurobiol 2021 Dec 19. Epub 2021 Dec 19.

Department of Pathology, University of Helsinki, Helsinki, Finland.

Aims: Few studies have investigated primary age-related tauopathy (PART) in a population-based setting. Here we assessed its prevalence, genetic background, comorbidities, and features of cognitive decline in an unselected elderly population.

Methods: The population-based Vantaa 85+ Study includes all 601 inhabitants of Vantaa aged ≥ 85 years in 1991. Read More

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December 2021

Epstein-Barr virus miR-BHRF1-3 targets the BZLF1 3'UTR and regulates the lytic cycle.

J Virol 2021 Dec 8:JVI0149521. Epub 2021 Dec 8.

Vaccine and Gene Therapy Institute, Oregon Health and Science University, Beaverton, Oregon, USA.

Suppression of lytic viral gene expression is a key aspect of the Epstein-Barr virus (EBV) life cycle to facilitate the establishment of latent infection. Molecular mechanisms regulating transitions between EBV lytic replication and latency are not fully understood. Here, we investigated the impact of viral microRNAs on the EBV lytic cycle. Read More

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December 2021

miRTarBase update 2022: an informative resource for experimentally validated miRNA-target interactions.

Nucleic Acids Res 2022 Jan;50(D1):D222-D230

School of Life and Health Sciences, The Chinese University of Hong Kong, Shenzhen, Longgang District, Shenzhen, Guangdong518172, China.

MicroRNAs (miRNAs) are noncoding RNAs with 18-26 nucleotides; they pair with target mRNAs to regulate gene expression and produce significant changes in various physiological and pathological processes. In recent years, the interaction between miRNAs and their target genes has become one of the mainstream directions for drug development. As a large-scale biological database that mainly provides miRNA-target interactions (MTIs) verified by biological experiments, miRTarBase has undergone five revisions and enhancements. Read More

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January 2022

First DNA Sequencing in Beninese Indigenous Cattle Breeds Captures New Milk Protein Variants.

Genes (Basel) 2021 10 26;12(11). Epub 2021 Oct 26.

Institute of Animal Breeding and Genetics, Justus-Liebig-University Gießen, 35390 Gießen, Germany.

This study investigated polymorphisms in the milk protein genes , , , , , and , and casein haplotypes in Beninese indigenous cattle. Considering 67 animals, DNA sequencing of the genes' exons, flanking regions and parts of the 5'-upstream regions identified 1058 genetic variants including 731 previously unknown. In addition, four novel milk protein variants were detected, including (p. Read More

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October 2021

Associations of Polymorphisms Localized in the 3'UTR Regions of the , , Genes with Laryngeal Squamous Cell Carcinoma.

Genes (Basel) 2021 10 23;12(11). Epub 2021 Oct 23.

Institute of Biology Systems and Genetic Research, Lithuanian University of Health Sciences, 50103 Kaunas, Lithuania.

Background: Genetic variations, localized in the 3' untranslated region (UTR) in mitogen-activated protein kinase (MAPK) pathway-related genes, may alter the transcription and impact the pathogenesis of laryngeal squamous cell carcinoma (LSCC). The present study investigated the associations of single-nucleotide polymorphisms (SNP), localized in the 3'UTR) of the , and genes with LSCC risk and clinicopathological features.

Methods: Genomic DNA and clinical data were collected from 327 adult men with LSCC. Read More

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October 2021

Two distinct mechanisms underlie estrogen-receptor-negative breast cancer susceptibility at the 2p23.2 locus.

Eur J Hum Genet 2021 Nov 22. Epub 2021 Nov 22.

Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.

Genome wide-association studies (GWAS) have established over 400 breast cancer risk loci defined by common single nucleotide polymorphisms (SNPs), including several associated with estrogen-receptor (ER)-negative disease. Most of these loci have not been studied systematically and the mechanistic underpinnings of risk are largely unknown. Here we explored the landscape of genomic features at an ER-negative breast cancer susceptibility locus at chromosome 2p23. Read More

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November 2021

Rs7853346 Polymorphism in lncRNA-PTENP1 and rs1799864 Polymorphism in CCR2 are Associated with Radiotherapy-Induced Cognitive Impairment in Subjects with Glioma Via Regulating PTENP1/miR-19b/CCR2 Signaling Pathway.

Biochem Genet 2021 Nov 19. Epub 2021 Nov 19.

Department of Radiotherapy (Ward II), Qinhuangdao First Hospital, No.258 Wenhua Road, Haigang District, Qinhuangdao, 066000, Hebei, People's Republic of China.

LncRNA-PTENP1 was reported to promote multiple myeloma cancer stem cell proliferation, and the G allele of rs7853346 polymorphism in lncRNA-PTENP1 was demonstrated to enhance the effect of lncRNA-PTENP1. In this study, we aimed to study the potential effect of lncRNA-PTENP1 and CCR2 mRNA polymorphisms on cognitive impairment in glioma patients. In this study, 279 glioma patients were recruited and grouped according to their genotypes of rs7853346 in PTENP1 and rs1799864 in CCR1. Read More

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November 2021

Association between rs61764370, rs9266, and rs140080026 polymorphisms of the KRAS gene and breast cancer risk in a Mexican population.

Eur Rev Med Pharmacol Sci 2021 Nov;25(21):6454-6464

División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.

Objective: Polymorphisms of the KRAS gene have been shown to be associated with cancer. However, their association with breast cancer (BC) has been inconsistent. The purpose of this study was to determine the frequency with which the rs61764370, rs9266, and rs140080026 polymorphisms of the KRAS gene are associated with BC in patients of the Mexican population. Read More

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November 2021

Polymorphisms of the Gene 3'UTR Region and Their Clinical Associations in Preterm Newborns.

Front Immunol 2021 28;12:741140. Epub 2021 Oct 28.

Laboratory of Immunobiology of Infections, Institute of Medical Biology, Polish Academy of Sciences, Łódź, Poland.

Ficolin-2 is regarded as an important innate immunity factor endowed with both lectin (carbohydrate recognition) qualities and ability to induce complement activation. The aim of this study was to investigate the association of the 3'-untranslated region (3'UTR) polymorphisms with ficolin-2 expression and perinatal complications in preterm neonates. The sequencing analysis allowed us to identify six 3'UTR polymorphisms with minor allele frequency (MAF) >1%: rs4521835, rs73664188, rs11103564, rs11103565, rs6537958 and rs6537959. Read More

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January 2022

Loss of SELENOF Induces the Transformed Phenotype in Human Immortalized Prostate Epithelial Cells.

Int J Mol Sci 2021 Nov 7;22(21). Epub 2021 Nov 7.

Department of Pathology, College of Medicine, University of Illinois at Chicago, Chicago, IL 60612, USA.

SELENOF is a member of the class of selenoproteins in which the amino acid selenocysteine is co-translationally inserted into the elongating peptide in response to an in-frame UGA codon located in the 3'-untranslated (3'-UTR) region of the SELENOF mRNA. Polymorphisms in the 3'-UTR are associated with an increased risk of dying from prostate cancer and these variations are functional and 10 times more frequent in the genomes of African American men. SELENOF is dramatically reduced in prostate cancer compared to benign adjacent regions. Read More

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November 2021

Association of HLA-G 3'UTR polymorphisms and haplotypes with colorectal cancer susceptibility and prognosis.

Hum Immunol 2022 Jan 9;83(1):39-46. Epub 2021 Nov 9.

Laboratory Microorganisms and Active Biomolecules, Sciences Faculty of Tunis, University Tunis El Manar, Tunis, Tunisia. Electronic address:

Human leukocyte antigen (HLA)-G has been considered as an immune modulator in several types of cancers. Its genetic polymorphisms may potentially affect the risk of developing colorectal cancer (CRC). The overall purpose of this study was to analyze the implication of HLA-G 3'untranslated region (3'UTR) polymorphisms particularly 14 pb insertion/deletion (Ins/Del; rs371194629) and + 3142C/G (rs1063320) in CRC susceptibility and progression. Read More

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January 2022

IRF2BP2 3'UTR Polymorphism Increases Coronary Artery Calcification in Men.

Front Cardiovasc Med 2021 25;8:687645. Epub 2021 Oct 25.

Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, Canada.

Interferon regulatory factor 2 binding protein 2 (IRF2BP2) suppresses the innate inflammatory response of macrophages. A 9-nucleotide deletion (rs3045215) in the 3' untranslated region (3'-UTR) of human IRF2BP2 mRNA confers risk of coronary artery disease (CAD) in the Ottawa Heart Genomics Study (OHGS). Here, we sought to identify regulatory mechanisms that may contribute to this risk. Read More

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October 2021

HLA-G 14bp Ins/Del Polymorphism in the 3'UTR Region and Acute Rejection in Kidney Transplant Recipients: An Updated Meta-Analysis.

Medicina (Kaunas) 2021 Sep 24;57(10). Epub 2021 Sep 24.

Department of Dental Pharmacology, School of Dentistry, Dankook University, Cheonan 16890, Korea.

Acute kidney injury (AKI) affects the survival rate of kidney transplant organs and patients. Acute rejection (AR) due to AKI may lead to kidney transplantation failure. It is known that there is a relationship between human leukocyte antigen-G (HLA-G), which is involved in immune regulation, and AR in transplant patients. Read More

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September 2021

rs6426881 in the 3'-UTR of PBX1 is involved in breast and gastric cancers via altering the binding potential of miR-522-3p.

Mol Biol Rep 2021 Nov 16;48(11):7405-7414. Epub 2021 Oct 16.

Rice Research Institute of Iran, Agricultural Research, Education and Extension Organization (AREEO), Rasht, Iran.

Background: Breast and gastric cancers are the most important diseases that lead to cancer death and social healthcare challenge. Overexpression of PBX1, a proto-oncogene, is correlated with the progression and metastasis of various cancers. For the first time, in this study the researchers evaluated the relationship between rs6426881, affecting miR-522-3p binding to the PBX1, with breast and gastric cancers. Read More

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November 2021

Genetic variants of cell cycle pathway genes are associated with head and neck squamous cell carcinoma in the Chinese population.

Carcinogenesis 2021 11;42(11):1337-1346

Department of Epidemiology and Biostatistics, and The Ministry of Education Key Laboratory of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.

Genetic alterations in the cell cycle pathway are common in head and neck squamous cell carcinoma (HNSCC). We identified four novel HNSCC susceptibility loci (CDKN1C rs452338, CDK4 rs2072052, E2F2 rs3820028 and E2F2 rs2075993) through a two-stage matched case-control study. There was a combined effect among the four single nucleotide polymorphisms (SNPs), as the number of risk genotypes increased, the risk of HNSCC displayed an increasing trend (Ptrend < 0. Read More

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November 2021

BMI1 is associated with CS8F amyloid-β and rates of cognitive decline in Alzheimer's disease.

Alzheimers Res Ther 2021 10 5;13(1):164. Epub 2021 Oct 5.

Center for Neuroimaging, Radiology and Imaging Sciences, Indiana University School of Medicine, 355 W 16th St. Methodist hospital, GH 4101, Indianapolis, Indiana, 46202, USA.

Background: Accumulating evidence suggests that BMI1 confers protective effects against Alzheimer's disease (AD). However, the mechanism remains elusive. Based on recent pathophysiological evidence, we sought for the first time to identify genetic variants in BMI1 as associated with AD biomarkers, including amyloid-β. Read More

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October 2021

HLA-G 3'UTR Polymorphisms Are Linked to Susceptibility and Survival in Spanish Gastric Adenocarcinoma Patients.

Front Immunol 2021 7;12:698438. Epub 2021 Sep 7.

Departamento de Inmunología, Oftalmología y ORL, Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain.

HLA-G is a non-classical class I HLA molecule that induces tolerance by acting on receptors of both innate and adaptive immune cells. When overexpressed in tumors, limits surveillance by the immune system. The gene shows several polymorphisms involved in mRNA and protein levels. Read More

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December 2021

Association of the 3' untranslated region polymorphisms of HLA-G with susceptibility to chronic hepatitis C virus infection in the Chinese population.

Hum Immunol 2022 Jan 20;83(1):47-52. Epub 2021 Sep 20.

Department of Blood Group, Dalian Blood Center, Dalian, China. Electronic address:

Hepatitis C virus (HCV) infection is a global health problem. Several previous studies have addressed the role of host single-nucleotide polymorphisms (SNPs) in HCV infection. SNPs in the regulatory region of the human leukocyte antigen G (HLA-G) gene play an important role in several diseases. Read More

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January 2022

SNP prioritization in targeted sequencing data associated with humoral immune responses in chicken.

Poult Sci 2021 Nov 19;100(11):101433. Epub 2021 Aug 19.

Biostatistics Group, Department of Genetics, Wrocław University of Environmental and Life Sciences, Wrocław, Poland; National Research Institute of Animal Production, Balice, Poland.

Our study aimed to identify single nucleotide polymorphisms (SNPs) with a significant impact on the innate immunity represented by antibody response against lipopolysaccharide (LPS) and lipoteichoid acid (LTA) and the adaptive immune response represented toward keyhole limpet hemocyanin (KLH) using the SNP prioritization method. Data set consisted of 288 F2 experimental individuals, created by crossing Green-legged Partridgelike and White Leghorn. The analyzed SNPs were located within 24 short genomic regions of GGA1, GGA2, GGA3, GGA4, GGA9, GGA10, GGA14, GGA18, and GGZ, pre-targeted based on literature references and database information. Read More

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November 2021

Developmental changes and metabolic reprogramming during establishment of infection and progression of Trypanosoma brucei brucei through its insect host.

PLoS Negl Trop Dis 2021 09 20;15(9):e0009504. Epub 2021 Sep 20.

Institute of Cell Biology, University of Bern, Bern, Switzerland.

Trypanosoma brucei ssp., unicellular parasites causing human and animal trypanosomiasis, are transmitted between mammals by tsetse flies. Periodic changes in variant surface glycoproteins (VSG), which form the parasite coat in the mammal, allow them to evade the host immune response. Read More

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September 2021

Genome-wide functional screen of 3'UTR variants uncovers causal variants for human disease and evolution.

Cell 2021 09 16;184(20):5247-5260.e19. Epub 2021 Sep 16.

Broad Institute of MIT and Harvard, Cambridge, MA 02143, USA; Department Of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02143, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.

3' untranslated region (3'UTR) variants are strongly associated with human traits and diseases, yet few have been causally identified. We developed the massively parallel reporter assay for 3'UTRs (MPRAu) to sensitively assay 12,173 3'UTR variants. We applied MPRAu to six human cell lines, focusing on genetic variants associated with genome-wide association studies (GWAS) and human evolutionary adaptation. Read More

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September 2021

Impacts of single nucleotide deletions from the 3' end of Senecavirus A 5' untranslated region on activity of viral IRES and on rescue of recombinant virus.

Virology 2021 11 9;563:126-133. Epub 2021 Sep 9.

College of Veterinary Medicine, Qingdao Agricultural University, Qingdao, 266109, China. Electronic address:

The 5' untranslated region (UTR) of Senecavirus A (SVA) harbors an internal ribosome entry site (IRES), in which a pseudoknot structure is upstream of start codon AUG. Wild-type SVAs have a highly conserved 13-nt-sequence between the pseudoknot stem II (PKS-II)-forming motif and the AUG. In this study, a single nucleotide was deleted one by one from the 13-nt-sequence within a wild-type SVA minigenome. Read More

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November 2021

Association of Genetic Variants Affecting microRNAs and Pancreatic Cancer Risk.

Front Genet 2021 30;12:693933. Epub 2021 Aug 30.

Blood Transfusion Service, Azienda Ospedaliero-Universitaria Meyer, Children's Hospital, Florence, Italy.

Genetic factors play an important role in the susceptibility to pancreatic cancer (PC). However, established loci explain a small proportion of genetic heritability for PC; therefore, more progress is needed to find the missing ones. We aimed at identifying single nucleotide polymorphisms (SNPs) affecting PC risk through effects on micro-RNA (miRNA) function. Read More

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VDR Gene Polymorphisms and Cluster Headache Susceptibility: Case-Control Study in a Southeastern European Caucasian Population.

J Mol Neurosci 2021 Sep 14. Epub 2021 Sep 14.

Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, School of Health Sciences, National and Kapodistrian University of Athens, Panepistimiopolis Zografou, 15771, Athens, Greece.

Cluster headache (CH) is a severe primary headache disorder with a genetic component, as indicated by family and twin studies. Diurnal and seasonal rhythmicity are key features of the disease and might be related to vitamin D, as low vitamin D levels have been observed in patients with cluster headache. In addition, the vitamin D receptor (VDR) occurs in brain areas and particularly in the hypothalamus. Read More

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September 2021

Association of PD-L1 gene polymorphisms and circulating sPD-L1 levels with HBV infection susceptibility and related liver disease progression.

Gene 2022 Jan 31;806:145935. Epub 2021 Aug 31.

Department of Molecular Biology, 108 Institute of Clinical Medical and Pharmaceutical Sciences, Hanoi, Viet Nam; Vietnamese-German Center for Medical Research (VG-CARE), Hanoi, Viet Nam.

Soluble molecules of programmed death ligand 1 (sPD-L1) are known to modulate T-cell depletion, an important mechanism of hepatitis B virus (HBV) persistence and liver disease progression. In addition, PD-L1 polymorphisms in the 3'-UTR can influence PD-L1 expression and have been associated with cancer risk, although not definitively. The purpose of this study was to investigate the association of PD-L1 polymorphisms and circulating levels of sPD-L1 in HBV infection and live disease progression. Read More

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January 2022

Von Hippel-Lindau gene single nucleotide polymorphism (rs1642742) may be related to the occurrence and metastasis of HBV-related hepatocellular carcinoma.

Medicine (Baltimore) 2021 Sep;100(35):e27187

Department of Infectious Diseases, the People's Hospital of Deyang City, Sichuan Province, China.

Abstract: It is well-known that microRNAs are able to regulate the expression of target mRNAs through complementary base-pairing to their 3'-untranslated regions (3'UTR) sequences. This study aimed to investigate whether single nucleotide polymorphisms resided in the 3'UTR sequences in patients with chronic hepatitis B viruses (HBV) infection are associated with the development and metastasis of hepatocellular carcinoma (HCC). Seventeen single nucleotide polymorphisms in the 3'UTR sequence of 10 genes regulated or affected by hepatitis B virus X protein were found by bioinformatics methods. Read More

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September 2021

3'aQTL-atlas: an atlas of 3'UTR alternative polyadenylation quantitative trait loci across human normal tissues.

Nucleic Acids Res 2022 Jan;50(D1):D39-D45

Division of Computational Biomedicine, Department of Biological Chemistry, School of Medicine, University of California, Irvine, Irvine, CA 92697, USA.

Genome-wide association studies (GWAS) have identified thousands of non-coding single-nucleotide polymorphisms (SNPs) associated with human traits and diseases. However, functional interpretation of these SNPs remains a significant challenge. Our recent study established the concept of 3' untranslated region (3'UTR) alternative polyadenylation (APA) quantitative trait loci (3'aQTLs), which can be used to interpret ∼16. Read More

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January 2022

Single-Nucleotide Polymorphisms in the 3' Untranslated Region of Associated With Cardiovascular Diseases in a Chinese Han Population: A Case-Control Study.

Front Cardiovasc Med 2021 2;8:625072. Epub 2021 Aug 2.

Department of Cardiology, The First Affiliated Hospital of Dalian Medical University, Dalian, China.

Corin is a transmembrane serine protease that activates pro-forms of atrial and brain natriuretic peptides. Numerous studies have indicated that corin played an important role in cardiovascular diseases (CVDs). However, there have been few studies about the correlation between single-nucleotide polymorphisms (SNPs) in the 3' untranslated region (3'UTR) of and CVDs. Read More

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Evidence of new intragenic HBB haplotypes model for the prediction of beta-thalassemia in the Malaysian population.

Sci Rep 2021 08 18;11(1):16772. Epub 2021 Aug 18.

Malaysian Thalassemia Registry, Medical Development Division, Ministry of Health (MOH), Putrajaya, Malaysia.

This study sought to determine the potential role of HBB haplotypes to predict beta-thalassemia in the Malaysian population. A total of 543 archived samples were selected for this study. Five tagging SNPs in the beta-globin gene (HBB; NG_000007. Read More

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