Search Results - "Polymorphism, Single Nucleotide"

Association Between Industrialized Dietary Pattern and Cardiometabolic Risk Factors in Children With FTO RS9939609 Gene Polymorphism.

Authors: Kiepper BHDLP Azevedo FM Candido AC et al.

Source: Molecular nutrition & food research [Mol Nutr Food Res] 2025 Nov; Vol. 69 (22), pp. e70254. Date of Electronic Publication: 2025 Sep 04.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-VCH Country of Publication: Germany NLM ID: 101231818 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1613-4133 (Electronic) Linking ISSN: 16134125 NLM ISO Abbreviation: Mol Nutr Food Res Subsets: MEDLINE

MeSH Terms: Alpha-Ketoglutarate-Dependent Dioxygenase FTO*/genetics , Polymorphism, Single Nucleotide* , Cardiometabolic Risk Factors* , Diet* , Cardiovascular Diseases*/genetics, Humans ; Child ; Male ; Female ; Child, Preschool ; Cross-Sectional Studies ; Triglycerides/blood ; Blood Glucose/metabolism ; Risk Factors ; Body Composition

Genetic Variants Associated With Congenital Heart Disease: A Meta-Analysis of Ethnicity and Subtype-Specific Susceptibility.

Authors: Chon HS Park JW

Source: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2025 Oct; Vol. 18 (5), pp. e005039. Date of Electronic Publication: 2025 Aug 27.

Publication Type: Journal Article; Meta-Analysis

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

MeSH Terms: Heart Defects, Congenital*/genetics , Heart Defects, Congenital*/ethnology , Genetic Predisposition to Disease* , Polymorphism, Single Nucleotide*, Humans ; Case-Control Studies ; Genome-Wide Association Study ; Ethnicity/genetics

Polymorphisms and haplotypes of TOLLIP and MUC5B are associated with susceptibility and survival in patients with fibrotic hypersensitivity pneumonitis.

Authors: Mota PC Soares ML Ferreira AC et al.

Source: Pulmonology [Pulmonology] 2025 Dec 31; Vol. 31 (1), pp. 2416788. Date of Electronic Publication: 2024 Oct 24.

Publication Type: Journal Article

Journal Info: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101723786 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2531-0437 (Electronic) Linking ISSN: 25310429 NLM ISO Abbreviation: Pulmonology Subsets: MEDLINE

MeSH Terms: Mucin-5B*/genetics , Haplotypes* , Polymorphism, Single Nucleotide* , Genetic Predisposition to Disease* , Alveolitis, Extrinsic Allergic*/genetics , Alveolitis, Extrinsic Allergic*/diagnosis , Intracellular Signaling Peptides and Proteins*/genetics, Humans ; Male ; Female ; Case-Control Studies ; Middle Aged ; Aged ; Portugal/epidemiology ; Gene Frequency ; Idiopathic Pulmonary Fibrosis/genetics ; Idiopathic Pulmonary Fibrosis/mortality

Genetic variants of the androgen receptor and frailty in postmenopausal women.

Authors: Monllor-Tormos A García-Pérez MÁ Tarín JJ et al.

Source: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology [Gynecol Endocrinol] 2025 Dec 31; Vol. 41 (1), pp. 2565238. Date of Electronic Publication: 2025 Oct 05.

Publication Type: Journal Article

Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8807913 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-0766 (Electronic) Linking ISSN: 09513590 NLM ISO Abbreviation: Gynecol Endocrinol Subsets: MEDLINE

MeSH Terms: Receptors, Androgen*/genetics , Postmenopause*/genetics , Polymorphism, Single Nucleotide* , Frailty*/genetics , Frailty*/epidemiology, Humans ; Female ; Middle Aged ; Aged ; Cross-Sectional Studies

sIL-6R impact on aortic aneurysm: Genetic evidence from FinnGen and GWAS.

Authors: Wang M Teng T Mo D et al.

Source: International journal of cardiology [Int J Cardiol] 2025 Dec 15; Vol. 441, pp. 133786. Date of Electronic Publication: 2025 Aug 15.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8200291 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1874-1754 (Electronic) Linking ISSN: 01675273 NLM ISO Abbreviation: Int J Cardiol Subsets: MEDLINE

MeSH Terms: Receptors, Interleukin-6*/genetics , Receptors, Interleukin-6*/blood , Genome-Wide Association Study*/methods , Aortic Aneurysm*/genetics , Aortic Aneurysm*/blood , Aortic Aneurysm*/epidemiology , Aortic Aneurysm*/diagnosis , Polymorphism, Single Nucleotide*/genetics , Genetic Predisposition to Disease*/genetics, Humans ; Mendelian Randomization Analysis/methods ; Male ; Finland/epidemiology ; Female ; Risk Factors

Identification of 4 autophagy-related genetic variants as risk factors for chronic lymphocytic leukemia.

Authors: Cabrera-Serrano AJ Sánchez-Maldonado JM Rodríguez-Sevilla JJ et al.

Source: Blood advances [Blood Adv] 2025 Dec 09; Vol. 9 (23), pp. 6076-6089.

Publication Type: Journal Article; Meta-Analysis

Journal Info: Publisher: American Society of Hematology Country of Publication: United States NLM ID: 101698425 Publication Model: Print Cited Medium: Internet ISSN: 2473-9537 (Electronic) Linking ISSN: 24739529 NLM ISO Abbreviation: Blood Adv Subsets: MEDLINE

MeSH Terms: Leukemia, Lymphocytic, Chronic, B-Cell*/genetics , Leukemia, Lymphocytic, Chronic, B-Cell*/mortality , Leukemia, Lymphocytic, Chronic, B-Cell*/pathology , Polymorphism, Single Nucleotide* , Autophagy*/genetics , Genetic Predisposition to Disease*, Humans ; Risk Factors ; Proto-Oncogene Proteins c-bcl-2/genetics ; Male ; Female ; Middle Aged ; Cyclin-Dependent Kinase Inhibitor p16/genetics ; Aged ; Case-Control Studies

The impact of asparaginase phenotype-related single nucleotide polymorphisms on prognosis in pediatric B-cell precursor acute lymphoblastic leukemia.

Authors: Zhang J Xu C Qin J et al.

Source: European journal of medical research [Eur J Med Res] 2025 Dec 06; Vol. 30 (1), pp. 1213. Date of Electronic Publication: 2025 Dec 06.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 9517857 Publication Model: Electronic Cited Medium: Internet ISSN: 2047-783X (Electronic) Linking ISSN: 09492321 NLM ISO Abbreviation: Eur J Med Res Subsets: MEDLINE

MeSH Terms: Asparaginase*/genetics , Polymorphism, Single Nucleotide* , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/genetics , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/drug therapy , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/mortality, Humans ; Child ; Female ; Male ; Prognosis ; Child, Preschool ; Retrospective Studies ; Adolescent ; Phenotype ; Infant ; Mutation

Allele frequency of CTLA-4 rs231775 (+49 A>G) gene polymorphism and its association with cancer susceptibility in the Saudi Arabian population and other ethnic groups.

Authors: Akhtar MS Alharbi RA Talat A et al.

Source: Cellular and molecular biology (Noisy-le-Grand, France) [Cell Mol Biol (Noisy-le-grand)] 2025 Dec 06; Vol. 71 (11), pp. 31-37. Date of Electronic Publication: 2025 Dec 06.

Publication Type: Journal Article

Journal Info: Publisher: C.M.B. Association Country of Publication: France NLM ID: 9216789 Publication Model: Electronic Cited Medium: Internet ISSN: 1165-158X (Electronic) Linking ISSN: 01455680 NLM ISO Abbreviation: Cell Mol Biol (Noisy-le-grand) Subsets: MEDLINE

MeSH Terms: CTLA-4 Antigen*/genetics , Polymorphism, Single Nucleotide*/genetics , Genetic Predisposition to Disease* , Neoplasms*/genetics , Ethnicity*/genetics, Humans ; Saudi Arabia ; Gene Frequency/genetics ; Case-Control Studies ; Alleles

Updated resource of 180K soybean SNP genotyping array based on the T2T reference genome.

Authors: Hwang JH Lee S Lee JS et al.

Source: PloS one [PLoS One] 2025 Dec 05; Vol. 20 (12), pp. e0335227. Date of Electronic Publication: 2025 Dec 05 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

MeSH Terms: Glycine max*/genetics , Polymorphism, Single Nucleotide* , Genome, Plant* , Genotyping Techniques*/methods, Genotype ; Chromosome Mapping

Examining the impact of gestational diabetes genetic susceptibility variants on maternal glucose levels during and post pregnancy.

Authors: Cissé AH Kuang A Allard C et al.

Source: BMJ open diabetes research & care [BMJ Open Diabetes Res Care] 2025 Dec 03; Vol. 13 (6). Date of Electronic Publication: 2025 Dec 03.

Publication Type: Journal Article

Journal Info: Publisher: Published by BMJ in partnership with the American Diabetes Association Country of Publication: England NLM ID: 101641391 Publication Model: Electronic Cited Medium: Internet ISSN: 2052-4897 (Electronic) Linking ISSN: 20524897 NLM ISO Abbreviation: BMJ Open Diabetes Res Care Subsets: MEDLINE

MeSH Terms: Diabetes, Gestational*/genetics , Diabetes, Gestational*/blood , Blood Glucose*/analysis , Genetic Predisposition to Disease* , Polymorphism, Single Nucleotide* , Postpartum Period*/blood , Biomarkers*/analysis, Humans ; Female ; Pregnancy ; Adult ; Glucose Tolerance Test ; Follow-Up Studies

Novel insight into CFTR gene's single nucleotide variants classification via in-silico analysis of a conserved site.

Authors: Rafique H Safdar A Ghani MU et al.

Source: Journal of computer-aided molecular design [J Comput Aided Mol Des] 2025 Dec 03; Vol. 40 (1), pp. 12. Date of Electronic Publication: 2025 Dec 03.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8710425 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4951 (Electronic) Linking ISSN: 0920654X NLM ISO Abbreviation: J Comput Aided Mol Des Subsets: MEDLINE

MeSH Terms: Cystic Fibrosis Transmembrane Conductance Regulator*/genetics , Cystic Fibrosis Transmembrane Conductance Regulator*/chemistry , Cystic Fibrosis*/genetics , Polymorphism, Single Nucleotide*, Humans ; Computer Simulation ; Computational Biology ; Conserved Sequence ; Amino Acid Substitution ; Mutation, Missense

Characterisation of the Novel HLA-DQA1*03:02:05 Allele by Next-Generation Sequencing.

Authors: Chen C Wu Q Wang F et al.

Source: HLA [HLA] 2025 Dec; Vol. 106 (6), pp. e70478.

Publication Type: Journal Article; Letter

Journal Info: Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101675570 Publication Model: Print Cited Medium: Internet ISSN: 2059-2310 (Electronic) Linking ISSN: 20592302 NLM ISO Abbreviation: HLA Subsets: MEDLINE

MeSH Terms: Alleles* , High-Throughput Nucleotide Sequencing* , HLA-DQ alpha-Chains*/genetics , Exons* , Polymorphism, Single Nucleotide*, Humans ; Histocompatibility Testing ; Base Sequence ; Sequence Analysis, DNA ; Sequence Alignment

Identification of the Novel HLA-A*02:540:02N Allele by Next-Generation Sequencing.

Authors: Bouthemy C Milhès J Fort M et al.

Source: HLA [HLA] 2025 Dec; Vol. 106 (6), pp. e70499.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101675570 Publication Model: Print Cited Medium: Internet ISSN: 2059-2310 (Electronic) Linking ISSN: 20592302 NLM ISO Abbreviation: HLA Subsets: MEDLINE

MeSH Terms: Exons* , High-Throughput Nucleotide Sequencing* , HLA-A2 Antigen*/genetics , HLA-A2 Antigen*/immunology , Polymorphism, Single Nucleotide*, Humans ; Alleles ; Base Sequence ; Codon/chemistry ; Histocompatibility Testing ; Sequence Alignment ; Sequence Analysis, DNA

Detection of the HLA-DQB1*03:319 Allele in a Taiwanese Individual.

Authors: Yang KL Lin PY

Source: HLA [HLA] 2025 Dec; Vol. 106 (6), pp. e70501.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101675570 Publication Model: Print Cited Medium: Internet ISSN: 2059-2310 (Electronic) Linking ISSN: 20592302 NLM ISO Abbreviation: HLA Subsets: MEDLINE

MeSH Terms: Exons* , HLA-DQ beta-Chains*/genetics , HLA-DQ beta-Chains*/immunology , Polymorphism, Single Nucleotide*, Humans ; Alleles ; Base Sequence ; Codon/chemistry ; Histocompatibility Testing ; Sequence Alignment ; Sequence Analysis, DNA ; East Asian People/genetics

Exploring the Shared Genetic Architectures Between Primary Open-Angle Glaucoma and Visual Pathway Regions in the Brain.

Authors: Aman AM MacGregor S Diaz-Torres S et al.

Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2025 Dec 01; Vol. 66 (15), pp. 11.

Publication Type: Journal Article

Journal Info: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

MeSH Terms: Glaucoma, Open-Angle*/genetics , Visual Pathways*/pathology , Polymorphism, Single Nucleotide* , Optic Chiasm*/pathology , Brain*/pathology, Humans ; Genome-Wide Association Study ; Mendelian Randomization Analysis ; Male ; Female ; Genetic Predisposition to Disease ; Magnetic Resonance Imaging ; Aged ; Middle Aged

Genomic characterization and SNP analysis connect respiratory infections caused by Mycobacterium intracellulare with a pool facility.

Authors: Selway CA Shephard L Hobby M et al.

Source: Microbial genomics [Microb Genom] 2025 Dec; Vol. 11 (12).

Publication Type: Journal Article

Journal Info: Publisher: Microbiology Society Country of Publication: England NLM ID: 101671820 Publication Model: Print Cited Medium: Internet ISSN: 2057-5858 (Electronic) Linking ISSN: 20575858 NLM ISO Abbreviation: Microb Genom Subsets: MEDLINE

MeSH Terms: Mycobacterium avium Complex*/genetics , Mycobacterium avium Complex*/isolation & purification , Mycobacterium avium Complex*/classification , Polymorphism, Single Nucleotide* , Mycobacterium avium-intracellulare Infection*/microbiology , Mycobacterium avium-intracellulare Infection*/epidemiology , Respiratory Tract Infections*/microbiology , Respiratory Tract Infections*/epidemiology, Humans ; Whole Genome Sequencing ; Genome, Bacterial ; Australia/epidemiology ; Male ; Water Microbiology ; Genomics ; Middle Aged ; Female ; Phylogeny ; Sputum/microbiology

Molecular Definition of the Novel HLA-DQB1*04:107 Allele Identified in Brazil Through Next-Generation Sequencing.

Authors: Perroni KTR Massi FP Hirata BKB et al.

Source: HLA [HLA] 2025 Dec; Vol. 106 (6), pp. e70496.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101675570 Publication Model: Print Cited Medium: Internet ISSN: 2059-2310 (Electronic) Linking ISSN: 20592302 NLM ISO Abbreviation: HLA Subsets: MEDLINE

MeSH Terms: Alleles* , Exons* , High-Throughput Nucleotide Sequencing* , HLA-DQ beta-Chains*/genetics , Polymorphism, Single Nucleotide*, Humans ; Base Sequence ; Brazil ; Histocompatibility Testing ; Sequence Analysis, DNA

The impact of single-nucleotide variants of hepatitis B virus and antiviral on liver cancer in gray zone patients.

Authors: Teng W Chang TT Su CW et al.

Source: Journal of biomedical science [J Biomed Sci] 2025 Dec 01; Vol. 32 (1), pp. 101. Date of Electronic Publication: 2025 Dec 01.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 9421567 Publication Model: Electronic Cited Medium: Internet ISSN: 1423-0127 (Electronic) Linking ISSN: 10217770 NLM ISO Abbreviation: J Biomed Sci Subsets: MEDLINE

MeSH Terms: Liver Neoplasms*/virology , Liver Neoplasms*/genetics , Liver Neoplasms*/epidemiology , Hepatitis B virus*/genetics , Polymorphism, Single Nucleotide* , Antiviral Agents*/therapeutic use , Carcinoma, Hepatocellular*/virology , Carcinoma, Hepatocellular*/genetics , Hepatitis B, Chronic*/drug therapy , Hepatitis B, Chronic*/virology , Hepatitis B, Chronic*/complications, Humans ; Male ; Female ; Middle Aged ; Retrospective Studies ; Adult ; Aged

Allele-Specific Methylation Links Non-coding Variant of rs2280906 to MYOM2 Regulation in Schizophrenia.

Authors: Li Q Gai Y Li Z et al.

Source: Molecular neurobiology [Mol Neurobiol] 2025 Dec 01; Vol. 63 (1), pp. 230. Date of Electronic Publication: 2025 Dec 01.

Publication Type: Journal Article

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Electronic Cited Medium: Internet ISSN: 1559-1182 (Electronic) Linking ISSN: 08937648 NLM ISO Abbreviation: Mol Neurobiol Subsets: MEDLINE

MeSH Terms: Schizophrenia*/genetics , Alleles* , DNA Methylation*/genetics , Polymorphism, Single Nucleotide*/genetics, Humans ; Genetic Predisposition to Disease ; Quantitative Trait Loci/genetics ; Gene Expression Regulation ; Genome-Wide Association Study

Leveraging Genome-wide Association Studies to Identify Pathogenic Variants for Breast Cancer Among Multiple Continents.

Authors: Admanegara PPS Yulianti R Rahmawati D et al.

Source: Anticancer research [Anticancer Res] 2025 Dec; Vol. 45 (12), pp. 5351-5367.

Publication Type: Journal Article

Journal Info: Publisher: International Institute of Anticancer Research Country of Publication: Greece NLM ID: 8102988 Publication Model: Print Cited Medium: Internet ISSN: 1791-7530 (Electronic) Linking ISSN: 02507005 NLM ISO Abbreviation: Anticancer Res Subsets: MEDLINE

MeSH Terms: Genome-Wide Association Study*/methods , Breast Neoplasms*/genetics , Breast Neoplasms*/pathology , Breast Neoplasms*/drug therapy , Polymorphism, Single Nucleotide* , Genetic Predisposition to Disease*, Humans ; Female ; Quantitative Trait Loci ; Biomarkers, Tumor/genetics ; Gene Frequency