FADS1, fatty acid desaturase 1, 3992

N. diseases: 125; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.010 Biomarker disease BEFREE SIGNIFICANCE STATEMENT: This study shows a D5D-specific and orally available potent inhibitor provided the first evidence to support the concept that D5D inhibitors will be a novel remedy for preventing the progression of atherosclerosis. 31488602 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.010 Biomarker disease BEFREE SIGNIFICANCE STATEMENT: This study shows a D5D-specific and orally available potent inhibitor provided the first evidence to support the concept that D5D inhibitors will be a novel remedy for preventing the progression of atherosclerosis. 31488602 2019
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.010 Biomarker group BEFREE In this study, we employed RNA nanotechnology for specific delivery of D5D-siRNA to xenograft colon tumors using 3WJ RNA nanoparticles. 30584980 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 AlteredExpression disease BEFREE Mechanistically, linc00460 functioned as a competitively endogenous RNA (ceRNA) to up-regulate FADS1 expression via sponging miR-1224-5p in OS, thereby promoting OS progression. 31419446 2019
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 AlteredExpression disease BEFREE Mechanistically, linc00460 functioned as a competitively endogenous RNA (ceRNA) to up-regulate FADS1 expression via sponging miR-1224-5p in OS, thereby promoting OS progression. 31419446 2019
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.010 AlteredExpression disease BEFREE Mechanistically, linc00460 functioned as a competitively endogenous RNA (ceRNA) to up-regulate FADS1 expression via sponging miR-1224-5p in OS, thereby promoting OS progression. 31419446 2019
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder
0.010 GeneticVariation disease BEFREE Aside from replicating previously reported BPD risk SNPs, we herein also report several intriguing findings: (1) the SNP rs174576 was associated with BPD in our Chinese sample and in the overall global meta-analysis, and was significantly correlated with FADS1 mRNA in diverse public RNA-seq datasets as well as our in house collected Chinese amygdala samples; (2) two (partially) independent SNPs in MAD1L1 were both significantly associated with BPD in our Chinese sample, which was also supported by haplotype analysis; (3) a rare SNP rs78089757 in 10q26.13 region was a genome-wide significant variant for BPD in East Asians, and this SNP was near monomorphic in Europeans. 30531795 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 Biomarker disease BEFREE Knockdown delta-5-desaturase in breast cancer cells that overexpress COX-2 results in inhibition of growth, migration and invasion via a dihomo-γ-linolenic acid peroxidation dependent mechanism. 29587668 2018
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia
0.010 GeneticVariation disease BEFREE Aside from replicating previously reported BPD risk SNPs, we herein also report several intriguing findings: (1) the SNP rs174576 was associated with BPD in our Chinese sample and in the overall global meta-analysis, and was significantly correlated with FADS1 mRNA in diverse public RNA-seq datasets as well as our in house collected Chinese amygdala samples; (2) two (partially) independent SNPs in MAD1L1 were both significantly associated with BPD in our Chinese sample, which was also supported by haplotype analysis; (3) a rare SNP rs78089757 in 10q26.13 region was a genome-wide significant variant for BPD in East Asians, and this SNP was near monomorphic in Europeans. 30531795 2018
CUI: C0162429
Disease: Malnutrition
Malnutrition
0.010 GeneticVariation disease BEFREE Recent animal studies revealed that malnutrition in utero causes an epigenetic change in the Pparα gene, which accelerates the activity of delta-6 desaturase and delta-5 desaturase, that potentially induces dyslipidemia in adulthood. 29956189 2018
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.010 AlteredExpression disease BEFREE Subjects with advanced liver fibrosis had higher levels of palmitic, stearic and oleic acid and total monounsaturated fatty acid (MUFA) and insulin (<i>p</i> < 0.05), and lower levels of elongase very long chain fatty acids protein-6 and the delta-5-desaturase enzymatic activity (<i>p</i> < 0.05). 30380656 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.010 AlteredExpression disease BEFREE This study suggests that decreased FADS1 expression may be associated with NAFLD in children but an increased response to DHA-CHO-VE. 30120404 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 Biomarker disease BEFREE Knockdown delta-5-desaturase in breast cancer cells that overexpress COX-2 results in inhibition of growth, migration and invasion via a dihomo-γ-linolenic acid peroxidation dependent mechanism. 29587668 2018
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 GeneticVariation disease BEFREE Thus, we examined whether dietary n-3 and n-6 PUFAs are associated with the risk of gastric cancer and further investigated whether fatty acid desaturases 1 and 2 (FADS1 and FADS2) modify this association. 29491470 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.010 GeneticVariation disease BEFREE The present study investigates whether genetic variants of the fatty acid desaturase (FADS) 1/2 and elongation of very long-chain fatty acids protein (ELOVL) 2 genes, which are involved in LC-PUFA metabolism, are associated with ASD risk. 30180836 2018
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.010 GeneticVariation disease BEFREE Compared to children who are common allele homozygotes, children with FADS1 minor alleles had a greater reduction in steatosis, fibrosis, and NAFLD activity score after DHA-CHO-VE. 30120404 2018
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.010 GeneticVariation phenotype BEFREE There was a statistically significant association between FADS1 rs174550 gene polymorphism and GDM. 28359772 2017
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.010 Biomarker disease BEFREE In conclusion, this study characterized a specific and sensitive lipid signature of NASH and positioned FADS1 as a significant player in accumulating toxic lipids during NASH progression. 28436449 2017
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 Biomarker disease BEFREE Our results demonstrate that FADS1-FADS2 are susceptibility genes for PCOS. 26879377 2016
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
0.010 GeneticVariation disease BEFREE Lack of association of SNPs from the FADS1-FADS2 gene cluster with major depression or suicidal behavior. 26513616 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 Biomarker disease BEFREE We investigated whether variants of genes that control polyunsaturated fatty acid metabolism (CYP4F3, FADS1, and FADS2), along with the dietary ratio of ω6/ω3, confers susceptibility to CD. 24406470 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 Biomarker phenotype BEFREE Four other loci are located in or near genes involved in transcriptional regulation (ZMIZ1), genome maintenance (FEN1), fatty acid metabolism (FADS1 and FADS2), cancer cell motility and metastasis (CD9), and cell growth and differentiation (NXN). 24836286 2014
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
0.010 GeneticVariation disease BEFREE These findings suggest that the polymorphisms of rs174556 in the FADS1 gene are very likely to be associated with ACS in Chinese Han population, especially in subjects with hypertension. 23555103 2013
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
0.010 GeneticVariation disease BEFREE The purpose of this study is to analyze the relationship between the polymorphisms of fatty acid desaturase 1 (FADS1), fatty acid desaturase 2 (FADS2), and elongation of very long-chain fatty acids-like 2 (ELOVL2) and acute coronary syndrome (ACS) in Chinese Han population. 23555103 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 GeneticVariation disease BEFREE Significant associations were found between AMD and variants in ABCA1 and FADS1-3, and a nearly significant association in TIMP3. 21613373 2011