FADS Polymorphisms Affect the Clinical and Biochemical Phenotypes of Metabolic Syndrome

Žák, Aleš; Jáchymová, M; Burda, Michal; Staňková, Barbora; Zeman, Miroslav; Slabý, A; Vecka, Marek; Šeda, Ondřej

doi:10.3390/metabo12060568

Cited by 4 publications

(2 citation statements)

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“…Since genetic variants affect lipid metabolism which is closely associated with MetS ( 33 ), attention focused on the association between MetS and genetic factors ( 34–36 ), and FADS genotype has been found to contribute to biochemical and metabolic variations in the MetS. In our pilot study in a routine clinical setting, we chose the FADS1 SNP rs174546 which has been reported to be in linkage disequilibrium (LD) with other FADS1 variants as a representative variant for differences in the FADS1 genotype ( 12 , 36 ) and confirmed this with the SNPs rs174547 and rs174550.…”

Section: Discussionmentioning

confidence: 99%

Effect of FADS1 SNPs rs174546, rs174547 and rs174550 on blood fatty acid profiles and plasma free oxylipins

Rabehl,

Wei,

Leineweber

et al. 2024

Front. Nutr.

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IntroductionPrevious studies have indicated that activity of fatty acid desaturase 1 (FADS1), is involved in cardiometabolic risk. Recent experimental data have shown that FADS1 knockdown can promote lipid accumulation and lipid droplet formation in liver cells. In this study, we aimed to characterize whether different FADS1 genotypes affect liver fat content, essential fatty acid content and free oxylipin mediators in the blood.MethodsWe analyzed the impact of FADS1 single-nucleotide polymorphisms (SNPs) rs174546, rs174547, and rs174550 on blood fatty acids and free oxylipins in a cohort of 85 patients from an academic metabolic medicine outpatient center. Patients were grouped based on their genotype into the homozygous major (derived) allele group, the heterozygous allele group, and the homozygous minor (ancestral) allele group. Omega-3 polyunsaturated fatty acids (n-3 PUFA) and omega-6 polyunsaturated fatty acids (n-6 PUFA) in the blood cell and plasma samples were analyzed by gas chromatography. Free Oxylipins in plasma samples were analyzed using HPLC–MS/MS. Liver fat content and fibrosis were evaluated using Fibroscan technology.ResultsPatients with the homozygous ancestral (minor) FADS1 genotype exhibited significantly lower blood levels of the n-6 PUFA arachidonic acid (AA), but no significant differences in the n-3 PUFAs eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA). There were no significant differences in liver fat content or arachidonic acid-derived lipid mediators, such as thromboxane B2 (TXB2), although there was a trend toward lower levels in the homozygous ancestral genotype group.DiscussionOur findings suggest that FADS1 genotypes influence the blood levels of n-6 PUFAs, while not significantly affecting the n-3 PUFAs EPA and DHA. The lack of significant differences in liver fat content and arachidonic acid-derived lipid mediators suggests that the genotype-related variations in fatty acid levels may not directly translate to differences in liver fat or inflammatory lipid mediators in this cohort. However, the trend towards lower levels of certain lipid mediators in the homozygous ancestral genotype group warrants further investigation to elucidate the underlying mechanisms of different FADS1 genotypes and potential implications for cardiometabolic risk.

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Section: Discussionmentioning

confidence: 99%

Effect of FADS1 SNPs rs174546, rs174547 and rs174550 on blood fatty acid profiles and plasma free oxylipins

Rabehl,

Wei,

Leineweber

et al. 2024

Front. Nutr.

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“…While EPA and DHA can be synthesized from alpha-linolenic acid (ALA) in humans, most studies suggest that the conversion of ALA to EPA is less than 5% and the conversion to DHA is less than 0.05% (3). N-3 FA blood levels, metabolism and uptake from bloodstream can be affected by individual conditions and genetic determinants (4,5).…”

Section: Introductionmentioning

confidence: 99%

Omega-3 index as risk factor in psychiatric diseases: a narrative review

et al. 2023

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Numerous studies have described associations between the omega-3 index (defined as the RBC percentage of EPA and DHA) and mental conditions, but no risk stratification or target value has gathered consensus so far. This narrative review aims to summarize the published data on the association between omega-3 index and mental illness and to contribute to the concept of an omega-3 index in the field of mental health. The bibliographic searches have been carried out in PubMed, Scopus and Web of Science databases to find relevant English language original research studies related to that association. The study search and selection process were registered in a PRISMA flow. Thirty-six studies were included in this review examining the links between omega-3 index and postpartum depression (3), major depression (15), major depression and bipolar disorder (1), bipolar disorder (4), schizophrenia and major depression (1), schizophrenia and other psychosis (5) and dementia (7). Thirty of these studies found either significant differences in omega-3 index between patients and controls or inverse relationships between omega-3 index and disease severity. The published evidence is compelling enough to suggest omega-3 index as a risk factor for some psychiatric diseases, specifically, major depression, postpartum depression, psychosis, and dementia. In occidental populations, we propose a risk threshold of (a) 4–5% in major depression and dementia, (b) 5% in postpartum depression, and (c) 4% for psychosis transition.

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Genetic association between FADS and ELOVL polymorphisms and the circulating levels of EPA/DHA in humans: a scoping review

Loukil,

Mutch,

Plourde

2024

Genes Nutr

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Background Docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA) are two omega-3 fatty acids that can be synthesized out of their precursor alpha-linolenic acid (ALA). FADS and ELOVL genes encode the desaturase and elongase enzymes required for EPA and DHA synthesis from ALA; however, single nucleotide polymorphisms (SNPs) in FADS and ELOVL genes could modify the levels of EPA and DHA synthesized from ALA although there is no consensus in this area. This review aims to investigate EPA and DHA circulating levels in human blood and their association with FADS or ELOVL. Methods PubMed, Cochrane, and Scopus databases were used to identify research articles. They were subsequently reviewed by two independent investigators. Results Initially, 353 papers were identified. After removing duplicates and articles not meeting inclusion criteria, 98 full text papers were screened. Finally, this review included 40 studies investigating FADS and/or ELOVL polymorphisms. A total of 47 different SNPs in FADS genes were reported. FADS1 rs174537, rs174547, rs174556 and rs174561 were the most studied SNPs, with minor allele carriers having lower levels of EPA and DHA. SNPs in the FADS genes were in high linkage disequilibrium. SNPs in FADS were correlated with levels of EPA and DHA. No conclusion could be drawn with the ELOVL polymorphisms since the number of studies was too low. Conclusion Specific SNPs in FADS gene, such as rs174537, have strong associations with circulating levels of EPA and DHA. Continued investigation regarding the impact of genetic variants related to EPA and DHA synthesis is warranted.

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FADS Polymorphisms Affect the Clinical and Biochemical Phenotypes of Metabolic Syndrome

Cited by 4 publications

References 88 publications

Effect of FADS1 SNPs rs174546, rs174547 and rs174550 on blood fatty acid profiles and plasma free oxylipins

Effect of FADS1 SNPs rs174546, rs174547 and rs174550 on blood fatty acid profiles and plasma free oxylipins

Omega-3 index as risk factor in psychiatric diseases: a narrative review

Genetic association between FADS and ELOVL polymorphisms and the circulating levels of EPA/DHA in humans: a scoping review

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