Assessment of children in the autistic spectrum disorder that carry the Thr92Ala-DIO2 polymorphism
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Endocrinological Investigation"
DOI: 10.1007/s40618-020-01497-x
Abstract: A polymorphism in the type 2 deiodinase (Thr92Ala-DIO2) gene has been associated with behavioral and cognitive dysfunction as well as neurodegeneration and oxidative stress in the central nervous system. To test whether the minor allele… read more here.
Keywords: thr92ala dio2; dio2 polymorphism; minor allele; spectrum disorder ... See more keywords
ERAP1-ERAP2 haplotypes are associated with ankylosing spondylitis in Polish patients.
Sign Up to like & getrecommendations! Published in 2019 at "Human immunology"
DOI: 10.1016/j.humimm.2019.02.004
Abstract: The objective of this case-control study was to evaluate the role of four single-nucleotide polymorphisms in the ERAP1 (rs2287987, rs30187, rs27044) and ERAP2 (rs2248374) genes and their haplotypes in predicting the risk for ankylosing spondylitis… read more here.
Keywords: erap1 erap2; ankylosing spondylitis; haplotypes associated; minor allele ... See more keywords
The minor allele of the CREBRF rs373863828 p.R457Q coding variant is associated with reduced levels of myostatin in males: Implications for body composition
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Metabolism"
DOI: 10.1016/j.molmet.2022.101464
Abstract: Objective The minor allele (A) of the rs373863828 variant (p.Arg457Gln) in CREBRF is restricted to indigenous peoples of the Pacific islands (including New Zealand Māori and peoples of Polynesia), with a frequency of up to… read more here.
Keywords: levels myostatin; mass; rs373863828; allele ... See more keywords
Effects of marker density and minor allele frequency on genomic prediction for growth traits in Chinese Simmental beef cattle
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Integrative Agriculture"
DOI: 10.1016/s2095-3119(16)61474-0
Abstract: Abstract Genomic selection has been demonstrated as a powerful technology to revolutionize animal breeding. However, marker density and minor allele frequency can affect the predictive ability of genomic estimated breeding values (GEBVs). To investigate the… read more here.
Keywords: density; minor allele; predictive ability; ability ... See more keywords
Association between cystatin C gene polymorphism and the prevalence of white matter lesion in elderly healthy subjects
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-61383-7
Abstract: Cystatin C (CST3) is a cysteine protease inhibitor abundant in the central nervous system, and demonstrated to have roles in several pathophysiological processes including vascular remodeling and inflammation. Previously, we showed a relation of CST3… read more here.
Keywords: carriers minor; allele haplotype; minor allele; gene ... See more keywords
The minor T allele of the MUC5B promoter rs35705950 associated with susceptibility to idiopathic pulmonary fibrosis: a meta-analysis
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-03533-z
Abstract: MUC5B promoter rs35705950 T/G gene polymorphism has been associated with the risk of IPF, but the influence of this relationship varies among different populations. In the past 2 years, there were new clinical studies with… read more here.
Keywords: analysis; promoter rs35705950; population; minor allele ... See more keywords
PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations
Sign Up to like & getrecommendations! Published in 2018 at "Bioinformatics"
DOI: 10.1093/bioinformatics/bty536
Abstract: Summary: Next‐generation sequencing (NGS) generates large amounts of genomic data and reveals about 20 000 genetic coding variants per individual studied. Several mutation damage prediction scores are available to prioritize variants, but there is currently… read more here.
Keywords: minor allele; allele frequencies; prediction scores; damage prediction ... See more keywords
The common IL1A single nucleotide polymorphism rs17561 is a hypomorphic mutation that significantly reduces interleukin‐1α release from human blood cells
Sign Up to like & getrecommendations! Published in 2022 at "Immunology"
DOI: 10.1111/imm.13584
Abstract: Interleukin‐1 alpha (IL‐1α) is a powerful cytokine that drives inflammation and modulates adaptive immunity. Due to these powerful effects, IL‐1α is controlled at multiple levels from transcription to cleavage and release from the cell. Genome‐wide… read more here.
Keywords: minor allele; rs17561; release; hypomorphic mutation ... See more keywords
MUC5B rs35705950 minor allele associates with older age and better survival in idiopathic pulmonary fibrosis
Sign Up to like & getrecommendations! Published in 2022 at "Respirology"
DOI: 10.1111/resp.14440
Abstract: The minor T‐allele of the MUC5B promoter polymorphism rs35705950 is strongly associated with idiopathic pulmonary fibrosis (IPF). However, conflicting results have been reported on the relationship between the MUC5B minor allele and survival and it… read more here.
Keywords: idiopathic pulmonary; minor allele; pulmonary fibrosis; allele ... See more keywords
Study of the Association of PEAR1, P2Y12, and UGT2A1 Polymorphisms with Platelet Reactivity in Response to Dual Antiplatelet Therapy in Chinese Patients
Sign Up to like & getrecommendations! Published in 2018 at "Cardiology"
DOI: 10.1159/000488101
Abstract: Objectives: Genetic variation is thought to contribute to considerable interindividual variability in platelet function, and there is a pressing need to identify genetic markers that can be used to predict the response to treatment. Our… read more here.
Keywords: p2y12 ugt2a1; pear1 p2y12; platelet reactivity; minor allele ... See more keywords
The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysis
Sign Up to like & getrecommendations! Published in 2020 at "BMC Medical Genetics"
DOI: 10.1186/s12881-020-01147-2
Abstract: Background Replication studies showed conflicting effects of ABCG2 and SLC2A9 polymorphisms on gout and serum urate. This meta-analysis therefore aimed to pool their effects across studies. Methods Studies were located from MEDLINE and Scopus from… read more here.
Keywords: serum urate; analysis; abcg2 slc2a9; minor allele ... See more keywords