Gene: FADS1

Alternate names for this Gene: D5D|FADS6|FADSD5|LLCDL1|TU12

Gene Summary: The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.2

Description of this Gene: fatty acid desaturase 1

Type of Gene: protein-coding

Gene: FADS2

Alternate names for this Gene: D6D|DES6|FADSD6|LLCDL2|SLL0262|TU13

Gene Summary: The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.2

Description of this Gene: fatty acid desaturase 2

Type of Gene: protein-coding

rs174551 in FADS1;FADS2 gene and Alanine aminotransferase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs174566 in FADS1;FADS2 gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs174545 in FADS1;FADS2 gene and Arachidonic acid measurement PMID 25500335 2015 A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.

rs174566 in FADS1;FADS2 gene and Asthma PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.

rs174567 in FADS1;FADS2 gene and Biliary calculi PMID 30504769 2018 Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

rs28456 in FADS1;FADS2 gene and Bipolar Disorder PMID 28115744 2018 In the present GWAS (Phase I/II), which included 2964 BD and 61 887 control subjects from the Japanese population, we detected a novel susceptibility locus at 11q12.2 (rs28456, P=6.4 × 10<sup>-9</sup>), a region known to contain regulatory genes for plasma lipid levels (FADS1/2/3).

rs174544 in FADS1;FADS2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs174550 in FADS1;FADS2 gene and Body mass index PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.

rs174546 in FADS1;FADS2 gene and C-reactive protein measurement PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

rs174545 in FADS1;FADS2 gene and Chronic Kidney Diseases PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

rs174550 in FADS1;FADS2 gene and Colorectal Carcinoma PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

rs174546 in FADS1;FADS2 gene and Coronary heart disease PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

rs174560 in FADS1;FADS2 gene and Duration of sleep PMID 30846698 2019 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.

rs174550 in FADS1;FADS2 gene and Fasting blood glucose measurement PMID 20081858 2010 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.

PMID 25631608 2015 Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.

PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs174550 in FADS1;FADS2 gene and Fasting blood sugar result PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs174545 in FADS1;FADS2 gene and Fatty acid measurement PMID 25500335 2015 A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.

rs174546 in FADS1;FADS2 gene and High density lipoprotein measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

PMID 20694148 2010 A genome-wide association study of the metabolic syndrome in Indian Asian men.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs174545 in FADS1;FADS2 gene and Kidney Failure, Chronic PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

rs174546 in FADS1;FADS2 gene and Low density lipoprotein cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 30670697 2019 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

rs174546 in FADS1;FADS2 gene and Metabolic Syndrome X PMID 20694148 2010 A genome-wide association study of the metabolic syndrome in Indian Asian men.

rs174567 in FADS1;FADS2 gene and Phosphatidylcholine measurement PMID 31551469 2019 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

rs174560 in FADS1;FADS2 gene and Phosphatidylinositol measurement PMID 31551469 2019 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

rs174550 in FADS1;FADS2 gene and Phospholipid measurement PMID 21829377 2011 Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.

rs174546 in FADS1;FADS2 gene and QT interval feature (observable entity) PMID 30679814 2019 Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.

rs174559 in FADS1;FADS2 gene and RDW - Red blood cell distribution width result PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs174559 in FADS1;FADS2 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs174551 in FADS1;FADS2 gene and Serum Alanine Aminotransferase Measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs174546 in FADS1;FADS2 gene and Serum HDL cholesterol measurement PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs174546 in FADS1;FADS2 gene and Serum LDL cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

rs174544 in FADS1;FADS2 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs174546 in FADS1;FADS2 gene and Serum total cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

rs174546 in FADS1;FADS2 gene and Triglycerides measurement PMID 19074352 2008 A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 31560688 2019 Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain.

PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs174565 in FADS1;FADS2 gene and Weight Gain PMID 31560688 2019 Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain.