Recombinant Human Acyl-CoA 6-desaturase (FADS2), partial

1. FADS2 role in the oleic acid metabolism PMID: 29413358
2. review identified that FADS polymorphism may alter plasma fatty acid composition and play a protective role in the development of type 2 diabetes PMID: 29899246
3. FADS1/2 SNPs affect dietary fatty acid metabolism in centrally obese postmenopausal Polish women. PMID: 30103441
4. In minor allele carriers of FADS1 and FADS2, plasma arachidonic acid (ARA) content was elevated only at the highest level of ARA consumed in infant formula. ARA level in plasma is reduced by low ARA consumption and by minor alleles in FADS in infants fed ARA-containing formula. PMID: 27276431
5. Results found rs174575-GG in FADS2 associated with lower total cholesterol level the northern Chinese Han population. also, rs174450-CC and rs7115739-TT alleles of FADS3 are associated with lower total cholesterol level. PMID: 28237083
6. Results show that preterm infants had as high D6D activity as term infants at birth. Thus, they have an ability to produce AA and DHA from precursor polyunsaturated fatty acids. After birth, D6D activity declined rapidly during first month. PMID: 27914518
7. The majority of CpG sites (117 out of 136, 86%) exhibited high levels of methylation with the greatest variability observed at three key regulatory regions-the promoter regions for FADS1 and FADS2 and a putative enhancer site between the two genes. PMID: 28957329
8. FADS1 rs174547 and FADS2 rs2727270 genotypes were significantly correlated with decreased HDL-C concentrations, and D5D /D6D activities as estimated as 20:4(n-6)/20:3 (n-6) and 18:3 (n-6)/18:2 (n-6) in a linear pattern in patients with type 2 diabetes PMID: 28555039
9. Using a sample of 534 twins, study observed a trend in the moderation of brain fatty acid effects on IQ by FADS2 variation. Using of publicly available gene expression databases from both humans and mice, showed that FADS2 variants also correlate with FADS1 brain expression PMID: 23826354
10. These data indicate that delta-6 desaturase activity might not be essential for the distinct effects of LA and ALA on NFkappaB activity. PMID: 27960561
11. SNP (rs1535) and 2-locus haplotypes (rs3834458-rs1535, rs1535-rs174575) in the FADS2 gene were associated with concentrations of gamma-linoleic acid (GLA) and arachidonic acid (AA) in breast milk; the 3-locus haplotype rs3834458-rs1535-rs174575, significantly affected concentrations of GLA but not AA PMID: 27269715
12. This study showed associations between FADS 1/2 SNPs and cognitive performance. rs1535 minor allele homozygosity and rs174448 major allele carriage associated with improved cognitive performance in 8- to 11-y-old boys but not in girls, thereby counteracting existing sex differences. PMID: 28515069
13. This study demonstrates for the first time that genetic variation in FADS2 is not only associated with the activity of the desaturation-elongation pathway, but also whole-body fat oxidation. PMID: 27144909
14. Our results demonstrate that FADS1-FADS2 are susceptibility genes for PCOS. PMID: 26879377
15. Single nucleotide polymorphisms in FADS gene (particularly rs174537) associate with plasma fatty acids and desaturase levels in patients with both type 2 diabetes and coronary artery disease. PMID: 27004414
16. We investigated the association of surgery-induced weight loss and FA desaturase (FADS)1/2 genotypes with serum and AT FA profile and with AT inflammation, measured as interleukin (IL)-1beta and NFkappaB pathway gene expression. PMID: 26609056
17. No associations were observed between any single-nucleotide polymorphisms and major depressive disorder diagnosis or attempted suicide status. PMID: 26513616
18. genetic association study in population of pregnant women in Republic of Seychelles: SNPs in FADS1/FADS2 are associated with maternal arachidonic acid status; a subtle association exists with neurodevelopment in this high fish-eating population. [REVIEW] PMID: 26474818
19. FADS2 has been shown to be important in the metabolism of polyunsaturated fatty acids. PMID: 26439440
20. Suggest that the FADS1 rs174546 SNP and the FADS2 rs174601 SNP are associated with the risk of coronary artery disease and ischemic stroke, and are likely to influence serum lipid levels. PMID: 26261632
21. Data suggest that up-regulation of FADS2 (delta-6 fatty acid desaturase) and down-regulation of FADS1 (delta-5 fatty acid desaturase) in obesity leads to altered long-chain polyunsaturated fatty acid nutritional status. [META-ANALYSIS, REVIEW] PMID: 25828602
22. In northern Han Chinese people, the minor allele (T) of rs174616 in the FADS1-FADS2 gene cluster is associated with a decreased conversion rate of Linoleic acid to Arachidonic acid, which may contribute to decreased reduced risk of developing T2 diabetes. PMID: 25981324
23. Loss of FADS2 function severely impairs the use of HeLa cells as an in vitro model for host response studies involving fatty acid effects. PMID: 25549244
24. The enzyme C440A is also able to catalyse hydrolysis of FAD bound to the PAPS reductase domain, which is quantitatively converted into FMN. PMID: 26277395
25. results demonstrate that the FADS2 classical transcript mediates direct Delta4 desaturation to yield 22:6n-3 and 22:5n-6 in human cells PMID: 26065859
26. Study shows that docosahexaenoic acid (DHA) and arachidonic acid (ARA) levels were lower in pregnant women homozygous for FADS1 rs174533 but after DHA supplementation, ARA level decreases in women homozygous for both FADS1rs174533 and FADS2rs1747575. PMID: 25500337
27. Fads1 and Fads2 gene expression was reduced by EPA and AA, but not ALA or LA PMID: 25755223
28. fatty acid desaturase 2 index was associated with child cognitive function in Indonesia PMID: 26078250
29. Increased FADS2-derived n-6 PUFAs and reduced n-3 PUFAs in plasma of atopic dermatitis patients PMID: 24854601
30. examined the impact of a highly influential FADS SNP, rs174537 on leukotriene, HETE, prostaglandin, and thromboxane biosynthesis in stimulated whole blood PMID: 24962583
31. results demonstrate the utility of eQTL mapping in the identification of novel asthma genes and provide evidence for the importance of FADS2, NAGA, and F13A1 in the pathogenesis of asthma. PMID: 24934276
32. Minor allele homozygotes and heterozygotes of rs174575 and rs174537 had lower PL 20:4 omega-6 levels in healthy individuals. PMID: 24985009
33. These results suggest that genetic variation at the FADS locus can influence an individual's response to fish oil supplements. PMID: 24936800
34. Recent genome-wide association studies showed that FADS1/FADS2 genetic locus, beyond being the main determinant of PUFA, was strongly associated with plasma lipids and glucose metabolism. PMID: 25038994
35. The results of this study indicate that a human-specific haplotype of the FADS2 gene cluster, which increases the synthesis of omega-3 and omega-6 LC-PUFAs (Ameur et al., 2012), is associated with age-related WM differences from childhood to early adulthood. PMID: 24790207
36. Single-nucleotide polymorphisms in the FADS2 gene is associated with lower arachidonic acid concentrations in the colon. PMID: 24022589
37. Delta-6-desaturase links polyunsaturated fatty acid metabolism with phospholipid remodeling and disease progression in heart failure. PMID: 24284026
38. Changes in the mRNA-expression levels of FADS1 and 2 directly affect blood DGLA levels and D6D activity. This study suggests that lower mRNA-expressions of FADS2 and ELOVL5 are associated with higher risk of atopic eczema in young children. PMID: 24167612
39. Weak evidence suggests that SNPs in FADS1/2 may influence high sensitivity C-reactive protein levels in young adults. PMID: 23867726
40. Children who consumed a higher dietary ratio of omega6/omega3 were susceptible for Crohn's disease if they were also carriers of specific variants of CYP4F3 and FADS2 genes. PMID: 24406470
41. genetic association studies in mother-child pairs in Bristol, England: Data suggest that 2 SNPs in promoter region of maternal FADS2 (rs3834458; rs968567) are associated with IQ of 8-year old children. PMID: 24067669
42. Data indicate a strong negative correlation between ALOX15, FADS2, and IL5RA expression with 2-arachidonoylglycerophosphocholine levels in dual asthmatic responses. PMID: 23844124
43. FADS single nucleotide polymorphisms are associated with plasma total cholesterol and HDLc levels in preschool children. PMID: 23667444
44. In general, the benefits of breastfeeding were small and did not interact with SNPs in FADS2. PMID: 23737301
45. Rs174617 in the FADS2 was not associated with acute coronary syndrome Chinese Han population PMID: 23555103
46. study concludes different sites at the FADS1-FADS2 locus appear to influence Delta-5 and Delta-6 desaturase (D5D and D6D) activity, and rs174537 genotype interacts with dietary eicosapentaenoic acid and docosahexaenoic acid to modulate D5D PMID: 23160180
47. These findings suggest that the AA synthetic pathway and the D6D enzyme in particular may be involved in the pathogenesis of breast cancer. PMID: 23414387
48. genetic association study in maternal/child dyads in England: Data suggest that SNPs in FADS2 (and in FADS1/FADS3) influence fetal fatty acid metabolism; both maternal and child FADS genotypes/haplotypes influence cord plasma long-chain fatty acids. PMID: 22877655
49. Data suggest that mRNA expression of delta-5 and delta-6 desaturases are down-regulated 40-50% in vitamin B-6-restricted hepatocytes. PMID: 23211517
50. Findings suggest that the 3 genes, FADS1, FADS2, and DCHS2, containing these SNPs might play dual roles influencing both CSI and ALM in males. PMID: 22960237

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HGNC: 3575

OMIM: 606149

KEGG: hsa:9415

STRING: 9606.ENSP00000278840

UniGene: Hs.502745