ArticleAmerican journal of human genetics2012
Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 123 papers, 4 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
123 citing papers in PubMed, 4 syntheses or guidelines pooled it, 267 citations in OpenAlex.
- Human blood metabolites and gastric cancer: a Mendelian randomization analysis.BMC gastroenterology · 2024Pooled it
- Pooled it
- Influence of fatty acid desaturase (FADS) genotype on maternal and child polyunsaturated fatty acids (PUFA) status and child health outcomes: a systematic review.Nutrition reviews · 2020Pooled it
- Meta-analysis of genome-wide association studies identifies three novel loci for saturated fatty acids in East Asians.European journal of nutrition · 2017Pooled it
- Effects of prenatal docosahexaenoic acid supplementation on offspring cardiometabolic health at 11 years differs by maternal single nucleotide polymorphism rs174602: follow-up of a randomized controlled trial in Mexico.The American journal of clinical nutrition · 2023Trial
- Infant Metabolome in Relation to Prenatal DHA Supplementation and Maternal Single-Nucleotide Polymorphism rs174602: Secondary Analysis of a Randomized Controlled Trial in Mexico.The Journal of nutrition · 2021Trial
- Maternal FADS2 single nucleotide polymorphism modified the impact of prenatal docosahexaenoic acid (DHA) supplementation on child neurodevelopment at 5 years: Follow-up of a randomized clinical trial.Clinical nutrition (Edinburgh, Scotland) · 2021Trial
- Prospective clinical trial examining the impact of genetic variation in FADS1 on the metabolism of linoleic acid- and ɣ-linolenic acid-containing botanical oils.The American journal of clinical nutrition · 2020Trial
- Maternal single nucleotide polymorphisms in the fatty acid desaturase 1 and 2 coding regions modify the impact of prenatal supplementation with DHA on birth weight.The American journal of clinical nutrition · 2016Trial
- Transcriptome analysis of follicular granulosa cells in young women with diminished ovarian reserve.Reproductive biology and endocrinology : RB&E · 2026Article
- Cross-population metabolome-wide Mendelian randomization study of prostate cancer risk.Research square · 2026Article
- Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Fast pairwise coalescence enables gene-resolution scans for recent selection in diverse human populations.bioRxiv : the preprint server for biology · 2026Article
- Revisiting Bill Lands' Hypotheses: HUFA Balance, Immuno-Metabolic Regulation, and Conflicting Clinical Evidence.Nutrients · 2026Review
- Omega-3 PUFAs in musculoskeletal health and sports medicine: from molecular pathways to precision nutrition strategies.Frontiers in nutrition · 2026Review
- Molecular Insights into the Functional Roles of Variants in the <italic>FADS</italic> Gene Cluster on Omega-3 Long-Chain Polyunsaturated Fatty Acid Synthesis.Lifestyle genomics · 2026Review
- Polyunsaturated Fatty Acids and Skin Cancer: Two-Sample Mendelian Randomization Study.Annals of dermatology · 2025Article
- Potential and Future Therapeutic Applications of Eicosapentaenoic/Docosahexaenoic Acid and Probiotics in Chronic Low-Grade Inflammation.Biomedicines · 2025Review
- Global Access to Uncontaminated Omega-3 Polyunsaturated Fatty Acids Requires Attention.AJPM focus · 2025Article
- Arachidonic acid as a potentially critical nutrient for vegetarians and vegans - position paper of the Research Institute for Plant-based Nutrition (IFPE).Lipids in health and disease · 2025Review
63 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 10 institutions in 7 countries.
Funding
Abstract
Omega-3 and omega-6 long-chain polyunsaturated fatty acids (LC-PUFAs) are essential for the development and function of the human brain. They can be obtained directly from food, e.g., fish, or synthesized from precursor molecules found in vegetable oils. To determine the importance of genetic variability to fatty-acid biosynthesis, we studied FADS1 and FADS2, which encode rate-limiting enzymes for fatty-acid conversion. We performed genome-wide genotyping (n = 5,652 individuals) and targeted resequencing (n = 960 individuals) of the FADS region in five European population cohorts. We also analyzed available genomic data from human populations, archaic hominins, and more distant primates. Our results show that present-day humans have two common FADS haplotypes-defined by 28 closely linked SNPs across 38.9 kb-that differ dramatically in their ability to generate LC-PUFAs. No independent effects on FADS activity were seen for rare SNPs detected by targeted resequencing. The more efficient, evolutionarily derived haplotype appeared after the lineage split leading to modern humans and Neanderthals and shows evidence of positive selection. This human-specific haplotype increases the efficiency of synthesizing essential long-chain fatty acids from precursors and thereby might have provided an advantage in environments with limited access to dietary LC-PUFAs. In the modern world, this haplotype has been associated with lifestyle-related diseases, such as coronary artery disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.