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Genetic polymorphism

open access: yesProceedings of the Royal Society of London. Series B. Biological Sciences, 2020
The title of this Symposium ‘From Mendel’s factors to the genetic code’ emphasizes a single aspect of genetic research. That is unfortunate in a subject of such wide scope. Even in the most general terms, it naturally involves far more than analysing the
E. Ford
semanticscholar   +3 more sources

Loss-of-function variants, non-alcoholic steatohepatitis and adverse liver outcomes: Results from a multi-ethnic Asian cohort [PDF]

open access: yesClinical and Molecular Hepatology, 2021
Background/Aims 17β-hydroxysteroid dehydrogenase 13 (HSD17B13) variants were recently reported to have significantly lower odds of non-alcoholic fatty liver disease (NAFLD).
Yi-Wen Ting   +7 more
doaj   +1 more source

Association of VDR gene ApaI polymorphism with obesity in Iranian population

open access: yesBiomédica: revista del Instituto Nacional de Salud, 2021
Introduction: Identifying obesity risk factors as a health problem facing communities is crucial given its complexity. The vitamin D receptor gene has been reported as a possible cause of this disease.
Farzad Rashidi, Maryam Ostadsharif
doaj   +1 more source

Association of Factor II G20210A, Factor V G1691A and methylenetetrahydrofolate reductase C677T gene polymorphism with different forms of myocardial infarction: ST segment elevation and non-ST segment elevation [PDF]

open access: yesVojnosanitetski Pregled, 2020
Background/Aim. Coagulation Factor II G20210A and Factor V G1691A variants are moderately associated with coronary artery disease. Polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene C677T is associated with myocardial infarction (MI) in ...
Ćućuz-Jokić Milica   +4 more
doaj   +1 more source

Genome-wide association study of mitochondrial DNA in Chinese men identifies seven new susceptibility loci for high-altitude pulmonary oedema [PDF]

open access: yesVojnosanitetski Pregled, 2021
Background/Aim. High-altitude pulmonary oedema (HAPE), which normally occurs at altitudes higher than 3,000 m, is a potentially fatal disease due to hypoxia.
Tang Caizhi   +4 more
doaj   +1 more source

Forensic Application of ForenSeqTM DNA Signature Prep Kit in Zhengjiang She Ethnic Group

open access: yesFayixue Zazhi, 2021
ObjectiveTo evaluate the ability of the ForenSeqTM DNA Signature Prep kit (ForenSeq kit) in analyzing the sequence information of STRs in Zhejiang She ethnic group and its forensic application efficacy.MethodsA total of 50 Zhejiang She ethnic group ...
QU Yi-ling   +12 more
doaj   +1 more source

Genetic Polymorphism of 16 X-STR Loci in Xinjiang Uygur Population

open access: yesFayixue Zazhi, 2022
ObjectiveTo study the genetic polymorphism and population genetic parameters of 16 X-STR loci in Xinjiang Uygur population.MethodsThe Goldeneye® DNA identification system 17X was used to amplify 16 X-STR loci in 502 unrelated individuals (251 females and
YUAN Chun-yan   +10 more
doaj   +1 more source

Association of Combined TCF7L2 and KCNQ1 Gene Polymorphisms with Diabetic Micro- and Macrovascular Complications in Type 2 Diabetes Mellitus [PDF]

open access: yesDiabetes & Metabolism Journal, 2021
Background Vascular complications are the major morbid consequences of type 2 diabetes mellitus (T2DM). The transcription factor 7-like 2 (TCF7L2), potassium voltage-gated channel subfamily Q member 1 (KCNQ1), and inwardly-rectifying potassium channel ...
Rujikorn Rattanatham   +7 more
doaj   +1 more source

A single nucleotide polymorphism genetic risk score to aid diagnosis of coeliac disease: a pilot study in clinical care

open access: yesAlimentary Pharmacology and Therapeutics, 2020
Single nucleotide polymorphism–based genetic risk scores (GRS) model genetic risk as a continuum and can discriminate coeliac disease but have not been validated in clinic. Human leukocyte antigen (HLA) DQ gene testing is available in clinic but does not
S. Sharp   +12 more
semanticscholar   +1 more source

Association of prothrombin, FV Leiden and MTHFR gene polymorphisms in the Montenegrin patients with venous thromboembolism [PDF]

open access: yesVojnosanitetski Pregled, 2021
Background/Aim. Polymorphisms of the factor V Leiden (FV G1691A), prothrombin (FII G20210A), and methylene-tetrahydrofolate reductase (MTHFR C677T) genes are the most commonly investigated inherited risk factors for developing venous thromboembolism (VTE)
Teofilov Slađana   +4 more
doaj   +1 more source

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