Plasma Concentration of 12-Hydroxyeicosatetraenoic Acid, Single Nucleotide Polymorphisms of 12-Lipooxygenase Gene and Vaso-Occlusion in Sickle Cell Disease

Duru, Augustine Nwakuche; Ocheni, S; Ibegbulam, Obike; Okpala, Iheanyi

doi:10.3389/fgeed.2021.722190

Cited by 2 publications

(1 citation statement)

References 39 publications

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“…Mazi et al [83] recently showed that plasma levels of LOX products derived from ARA were higher and certain CYP product metabolites were lower in Caucasians compared to White Hispanics with nonalcoholic steatohepatitis. On the other hand, few differences in oxylipins due to race/ethnicity were found in healthy children at risk for type 1 diabetes [38], and no differences in 12-HETE levels were associated with 12-LOX polymorphisms in the context of vasoocclusion in sickle cell disease [84]. Environment can also interact with genotype, as HEPE and HDoHE oxylipins increase more in response to EPAþDHA supplementation in those with the apolipoprotein E4 compared to the E3/E3 genotype [85].…”

Section: Biological Variation Of Oxylipins -Sex Genetics and Environmentmentioning

confidence: 99%

Factors affecting variability in free oxylipins in mammalian tissues

Aukema

Ravandi

2022

Current Opinion in Clinical Nutrition &Amp; Metabolic Care

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Purpose of the reviewAlong with the growing interest in oxylipins is an increasing awareness of multiple sources of variability in oxylipin data. This review summarizes recent findings that highlight the experimental and biological sources of variation in free oxylipins.Recent findingsExperimental factors that affect oxylipin variability include different methods of euthanasia, postmortem changes, cell culture reagents, tissue processing conditions and timing, storage losses, freeze-thaw cycles, sample preparation techniques, ion suppression, matrix effects, use and availability of oxylipin standards, and postanalysis procedures. Biological factors include dietary lipids, fasting, supplemental selenium, vitamin A deficiency, dietary antioxidants and the microbiome. Overt, but also more subtle differences in health affect oxylipin levels, including during resolution of inflammation and long-term recovery from disease. Sex, genetic variation, exposure to air pollution and chemicals found in food packaging and household and personal care products, as well as many pharmaceuticals used to treat health conditions also affect oxylipin levels.SummaryExperimental sources of oxylipin variability can be minimized with proper analytical procedures and protocol standardization. Fully characterizing study parameters will help delineate biological factors of variability, which are rich sources of information that can be used to probe oxylipin mechanisms of action and to investigate their roles in health.

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Section: Biological Variation Of Oxylipins -Sex Genetics and Environmentmentioning

confidence: 99%

Factors affecting variability in free oxylipins in mammalian tissues

Aukema

Ravandi

2022

Current Opinion in Clinical Nutrition &Amp; Metabolic Care

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Genetic Variation and Sickle Cell Disease Severity

Kirkham,

Estepp,

Weiss

et al. 2023

JAMA Netw Open

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ImportanceSickle cell disease (SCD) is a monogenic disorder, yet clinical outcomes are influenced by additional genetic factors. Despite decades of research, the genetics of SCD remain poorly understood.ObjectiveTo assess all reported genetic modifiers of SCD, evaluate the design of associated studies, and provide guidelines for future analyses according to modern genetic study recommendations.Data SourcesPubMed, Web of Science, and Scopus were searched through May 16, 2023, identifying 5290 publications.Study SelectionAt least 2 reviewers identified 571 original, peer-reviewed English-language publications reporting genetic modifiers of human SCD phenotypes, wherein the outcome was not treatment response, and the comparison was not between SCD subtypes or including healthy controls.Data Extraction and SynthesisData relevant to all genetic modifiers of SCD were extracted, evaluated, and presented following STREGA and PRISMA guidelines. Weighted z score meta-analyses and pathway analyses were conducted.Main Outcomes and MeasuresOutcomes were aggregated into 25 categories, grouped as acute complications, chronic conditions, hematologic parameters or biomarkers, and general or mixed measures of SCD severity.ResultsThe 571 included studies reported on 29 670 unique individuals (50% ≤ 18 years of age) from 43 countries. Of the 17 757 extracted results (4890 significant) in 1552 genes, 3675 results met the study criteria for meta-analysis: reported phenotype and genotype, association size and direction, variability measure, sample size, and statistical test. Only 173 results for 62 associations could be cross-study combined. The remaining associations could not be aggregated because they were only reported once or methods (eg, study design, reporting practice) and genotype or phenotype definitions were insufficiently harmonized. Gene variants regulating fetal hemoglobin and α-thalassemia (important markers for SCD severity) were frequently identified: 19 single-nucleotide variants in BCL11A, HBS1L-MYB, and HBG2 were significantly associated with fetal hemoglobin (absolute value of Z = 4.00 to 20.66; P = 8.63 × 10−95 to 6.19 × 10−5), and α-thalassemia deletions were significantly associated with increased hemoglobin level and reduced risk of albuminuria, abnormal transcranial Doppler velocity, and stroke (absolute value of Z = 3.43 to 5.16; P = 2.42 × 10−7 to 6.00 × 10−4). However, other associations remain unconfirmed. Pathway analyses of significant genes highlighted the importance of cellular adhesion, inflammation, oxidative and toxic stress, and blood vessel regulation in SCD (23 of the top 25 Gene Ontology pathways involve these processes) and suggested future research areas.Conclusions and RelevanceThe findings of this comprehensive systematic review and meta-analysis of all published genetic modifiers of SCD indicated that implementation of standardized phenotypes, statistical methods, and reporting practices should accelerate discovery and validation of genetic modifiers and development of clinically actionable genetic profiles.

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Plasma Concentration of 12-Hydroxyeicosatetraenoic Acid, Single Nucleotide Polymorphisms of 12-Lipooxygenase Gene and Vaso-Occlusion in Sickle Cell Disease

Cited by 2 publications

References 39 publications

Factors affecting variability in free oxylipins in mammalian tissues

Factors affecting variability in free oxylipins in mammalian tissues

Genetic Variation and Sickle Cell Disease Severity

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