The combination of genomics, transcriptomics and proteomics sheds light on autoimmune thyroid disease, other autoimmune diseases and AML
REYKJAVIK, Iceland, June 24, 2020 /PRNewswire/ -- Scientists at deCODE genetics, a subsidiary of Amgen, and their collaborators from the Icelandic healthcare system, University of Iceland and the Karolinska Institute in Sweden, today publish a studyin Nature, comparing over 30 thousand patients with autoimmune thyroid disease from Iceland and UK with 725 thousand controls. Autoimmune thyroid disease (AITD) is the most common autoimmune disease and is highly heritable. The scientists found 99 sequence variants that associate with autoimmune thyroid disease and 84 of those had not been associated with the disease before.
One of the newly discovered sequence variants is in a gene that codes for the FLT3 receptor (fms-related tyrosine kinase 3) on blood cells and immune cells, and is of large interest for several reasons.
First, it strongly increases the risk of autoimmune thyroid disease and other autoimmune diseases, both systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) and celiac disease. Thesediseases are all characterized by autoantibodies and are more common in women than men. Furthermore, patients with thesediseases are quite often affected by autoimmune thyroid disease as well.
Second, it is known that activating somatic mutations in the FLT3 gene associate with acute myeloid leukemia (AML). Therefore, the scientists tested whether this FLT3 germline variant, affects the risk of AML like it increases the risk of autoimmune diseases. It turned out that it almost doubles the risk of AML, but not the risk of cancer overall.
Third, it is quite remarkable that this variant in FLT3, which is in anintron of the gene and does not directly affect coding sequence, can have so strong effect on disease risk. It turns out that the variant introduces a stop codon in one-third of the transcripts, which results in a shorter protein that lacks the kinase part, which is essential for its function.
Finally, this variant in FLT3 affects the plasma levelsof several other proteins in the body, especially the ligand of FLT3, resulting in almost double the level in carriers. This molecular couple, the FLT3 receptor and its ligand, has a key role in the development of blood cells that are important in both acute myeloid leukemia and immune responses. Hence, this variant is a loss of function mutation that through compensatory increase in the level of the ligand, acts as a gain of function.
"This report describes a novel major risk gene for several autoimmune diseases, discovered through a genome-wide study on autoimmune thyroid disease, and how the risk variant affects the gene product, FLT3, and consequently the level of the ligand to the FLT3 receptor in blood, thereby demonstrating its functional importance," says Prof. Saedis Saevarsdottir, scientist atdeCODEgenetics and first author on the paper
"The discoveries presented in this paper are based on the sequential application of genomics, transcriptomics and proteomics; the combination of these three omics in a hypothesis independent manner yields a remarkably powerful approach to the study of human disease," says Kari Stefansson, CEO of deCODE genetics and senior author on the paper.
Based in Reykjavik, Iceland, deCODE is a global leader in analyzing and understanding the human genome. Using its unique expertise in human genetics combined with growing expertise in transcriptomics and population proteomics and vast amount of phenotypic data, deCODE has discovered risk factors for dozens of common diseases and provided key insights into their pathogenesis. The purpose of understanding the genetics of disease is to use that information to create new means of diagnosing, treating and preventing disease. deCODE is a wholly-owned subsidiary of Amgen (NASDAQ: AMGN).
Video - https://www.youtube.com/watch?v=Wa4OGAejKTs Photo - https://media.zenfs.com/en/prnewswire.com/65959edb04d7e824e88686a3d5635154 Logo - https://media.zenfs.com/en/prnewswire.com/5c073ade5135fe6bbd51ce8b6019cb27
Contact: Thora Kristin AsgeirsdottirPR and CommunicationsdeCODE geneticsthoraa@decode.is+354 894 1909
Story continues
- SCARY GHOST ENCOUNTER! (The Hidden) - Video [Last Updated On: September 7th, 2012] [Originally Added On: September 7th, 2012]
- Human Genetics and Genomics: The Science for the 21st Century - Video [Last Updated On: September 7th, 2012] [Originally Added On: September 7th, 2012]
- DNA Research - 07-09-2012 - Video [Last Updated On: September 7th, 2012] [Originally Added On: September 7th, 2012]
- Replying to Equestions on Junk DNA - Video [Last Updated On: September 7th, 2012] [Originally Added On: September 7th, 2012]
- 2013 Rosalind Franklin Young Investigator Awards Announced [Last Updated On: September 8th, 2012] [Originally Added On: September 8th, 2012]
- Jackson Lab CEO Leads From Heart [Last Updated On: September 28th, 2012] [Originally Added On: September 28th, 2012]
- Love of science lifts Hobe Sound teen to genetics conference in Germany [Last Updated On: September 30th, 2012] [Originally Added On: September 30th, 2012]
- Nobel Laureates and Experts Gather to Discuss Genetics and Society [Last Updated On: September 30th, 2012] [Originally Added On: September 30th, 2012]
- Seattle Genetics and Millennium Complete Enrollment in Phase III AETHERA Trial of ADCETRIS® for Post-Transplant ... [Last Updated On: September 30th, 2012] [Originally Added On: September 30th, 2012]
- GENETICS Journal Highlights for October 2012 [Last Updated On: October 2nd, 2012] [Originally Added On: October 2nd, 2012]
- Myriad Genetics Sponsors Cancer Awareness Initiatives in Support of National Hereditary Breast and Ovarian Cancer Week [Last Updated On: October 3rd, 2012] [Originally Added On: October 3rd, 2012]
- Study Says Genetics Of Intelligence Remains A Riddle, For Now [Last Updated On: October 3rd, 2012] [Originally Added On: October 3rd, 2012]
- ORF Genetics to Offer endotoxin- and Animal-free FGFb and mLIF for Stem Cell Research [Last Updated On: October 4th, 2012] [Originally Added On: October 4th, 2012]
- Research and Markets: Human Genes and Genomes. Science, Health, Society Provides Students and Professionals Alike With ... [Last Updated On: October 5th, 2012] [Originally Added On: October 5th, 2012]
- Mosquito genetics may offer clues to control malaria, researchers say [Last Updated On: October 5th, 2012] [Originally Added On: October 5th, 2012]
- Delphi Genetics Grants Merck License for the Use of the StabyExpress™ System [Last Updated On: October 8th, 2012] [Originally Added On: October 8th, 2012]
- This Week in PNAS [Last Updated On: October 10th, 2012] [Originally Added On: October 10th, 2012]
- Outsmarting breast cancer [Last Updated On: October 10th, 2012] [Originally Added On: October 10th, 2012]
- Economics and genetics meet in uneasy union [Last Updated On: October 10th, 2012] [Originally Added On: October 10th, 2012]
- Nurture trumps nature in study of oral bacteria in human twins, study finds [Last Updated On: October 12th, 2012] [Originally Added On: October 12th, 2012]
- Nurture trumps nature in study of oral bacteria in human twins, says CU study [Last Updated On: October 12th, 2012] [Originally Added On: October 12th, 2012]
- Claim That Links Economic Success and Genetic Diversity Draws Criticism [Last Updated On: October 12th, 2012] [Originally Added On: October 12th, 2012]
- Master-builder of the Human Genetics Unit [Last Updated On: October 15th, 2012] [Originally Added On: October 15th, 2012]
- Genetics Society of America announces 2013 award recipients [Last Updated On: October 15th, 2012] [Originally Added On: October 15th, 2012]
- Myriad Genetics to Announce First Fiscal Quarter 2013 Results on Monday, November 5, 2012 [Last Updated On: October 15th, 2012] [Originally Added On: October 15th, 2012]
- Petes Wins Lifetime Achievement Award in Genetics [Last Updated On: October 16th, 2012] [Originally Added On: October 16th, 2012]
- 23andMe Names Christine Castro, Neil Rothstein and Jonathan Ward to Leadership Positions [Last Updated On: October 16th, 2012] [Originally Added On: October 16th, 2012]
- Privately owned genetic databases may hinder diagnosis and bar the way to the arrival of personalized medicine [Last Updated On: November 2nd, 2012] [Originally Added On: November 2nd, 2012]
- Neil Risch - Wiki Article - Video [Last Updated On: November 2nd, 2012] [Originally Added On: November 2nd, 2012]
- GHOST DANCE (The Hidden) - Video [Last Updated On: November 2nd, 2012] [Originally Added On: November 2nd, 2012]
- SCARY GAME - "The Hidden" With Mr.Mitch361, Charlie, and ChildDolphin - Video [Last Updated On: November 2nd, 2012] [Originally Added On: November 2nd, 2012]
- International Academy of Cardiology: Neil Bowles, Ph.D.: GENETIC CAUSES OF CONGENITAL HEART DEFECTS - Video [Last Updated On: November 2nd, 2012] [Originally Added On: November 2nd, 2012]
- The Best Of: "The Hidden" - Video [Last Updated On: November 2nd, 2012] [Originally Added On: November 2nd, 2012]
- MEAT SHIELD (The Hidden) - Video [Last Updated On: November 4th, 2012] [Originally Added On: November 4th, 2012]
- The 10000 Year Explosion: How Civilization Accelerated Human Evolution - , Henry Harpending - Video [Last Updated On: November 4th, 2012] [Originally Added On: November 4th, 2012]
- Humans, chimpanzees and monkeys share DNA but not gene regulatory mechanisms [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- Surprising findings from NHLBI Exome Sequencing Project reported [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- New method helps link genomic variation to protein production [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- Ariosa Diagnostics to Present Clinical Data on the Harmony™ Prenatal Test at American Society of Human Genetics Annual ... [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- ALEX JONES Talks To DAVID ICKE: Human Genetics, Election FRAUD [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- David Icke Exposes ROYAL PAEDOPHILES - Video [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- Alex Jones - David Icke: Human Genetics, The Religion Of Death - Video [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- David Icke - Infowars Election Coverage 2012 - Video [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- David Icke: Human Genetics, The Religion of Death - Video [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- Evening with the UC Davis Genome Center - Oct 6, 2012 - David Segal - Video [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- The Hidden - (Blood For The Blood God, I Must Feed) - Video [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- GHOST ISSUES (The Hidden) - Video [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- The Hidden - (Fart Grenades And Friendly Fire) - Video [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- GHOST ISLAND (The Hidden) - Video [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- Growth Hormone - Video [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- Social Anthropology And Human Origins - Alan Barnard - Video [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- Protein Structural Biology In Biomedical Research. Advances In Molecular And Cell Biology, Volume 22 - Video [Last Updated On: November 7th, 2012] [Originally Added On: November 7th, 2012]
- Exome sequencing: Potential diagnostic assay for unexplained intellectual disability [Last Updated On: November 9th, 2012] [Originally Added On: November 9th, 2012]
- Unexplained intellectual disability explained by state-of-the-art genetic analysis [Last Updated On: November 9th, 2012] [Originally Added On: November 9th, 2012]
- DNA variants explain over 10 percent of inherited genetic risk for heart disease [Last Updated On: November 9th, 2012] [Originally Added On: November 9th, 2012]
- Novel type 2 diabetes genetic study involves 5 major ancestry groups [Last Updated On: November 9th, 2012] [Originally Added On: November 9th, 2012]
- Significant relationship between mortality and telomere length discovered [Last Updated On: November 9th, 2012] [Originally Added On: November 9th, 2012]
- Alex Jones on David Icke 2001 - The Turd - Video [Last Updated On: November 9th, 2012] [Originally Added On: November 9th, 2012]
- David Icke Human Genetics [Last Updated On: November 9th, 2012] [Originally Added On: November 9th, 2012]
- BLINDNESS (The Hidden) - Video [Last Updated On: November 9th, 2012] [Originally Added On: November 9th, 2012]
- Human Genetics, The Religion of Death : David Icke - Video [Last Updated On: November 9th, 2012] [Originally Added On: November 9th, 2012]
- Alex Jones Show - David Icke: Human Genetics, Paedophile Gov., The Religion of Death - Video [Last Updated On: November 9th, 2012] [Originally Added On: November 9th, 2012]
- Human Genetics - Video [Last Updated On: November 9th, 2012] [Originally Added On: November 9th, 2012]
- DAVID ICKE: Human Genetics, The Religion of Death (11/6/2012) - Video [Last Updated On: November 9th, 2012] [Originally Added On: November 9th, 2012]
- Human Genetics: The Basics - Ricki Lewis - Video [Last Updated On: November 9th, 2012] [Originally Added On: November 9th, 2012]
- The Hidden - (Meat Shields Everywhere, Face Of Protection) - Video [Last Updated On: November 9th, 2012] [Originally Added On: November 9th, 2012]
- Leading Genomic Services Company and Its Partners Raise More Than $150,000 in Support of Pediatric Genetics Research [Last Updated On: November 11th, 2012] [Originally Added On: November 11th, 2012]
- Verinata Health Announces New Findings At The American Society Of Human Genetics [Last Updated On: November 11th, 2012] [Originally Added On: November 11th, 2012]
- DAVID ICKE: Human Genetics, The Religion of Death! ALEX JONES [INFOWARS Nightly News] - Video [Last Updated On: November 11th, 2012] [Originally Added On: November 11th, 2012]
- ALEX-JONES-Talks-To-DAVID-ICKE--Human-Genetics,-Election-FRAUD-n-The-Religion-Of-DEATH - Video [Last Updated On: November 11th, 2012] [Originally Added On: November 11th, 2012]
- Illumina Bioninformatics Overview at ASHG 2012 - Video [Last Updated On: November 11th, 2012] [Originally Added On: November 11th, 2012]
- The Hidden - Fun With No Silence [Last Updated On: November 11th, 2012] [Originally Added On: November 11th, 2012]
- David Icke - Human Genetics, The Religion of Death [11/06/2012] - Video [Last Updated On: November 11th, 2012] [Originally Added On: November 11th, 2012]
- Genetics Center takes part in global meet [Last Updated On: November 12th, 2012] [Originally Added On: November 12th, 2012]
- Half Life 2 Mods: The Hidden | Part 4 | TO WIN, OR NOT TO WIN! - Video [Last Updated On: November 12th, 2012] [Originally Added On: November 12th, 2012]
- US-X - Video [Last Updated On: November 12th, 2012] [Originally Added On: November 12th, 2012]
- Personalized Medicine From Genomics and Bioinformatics Highlighted at UCSF Genetics Symposium [Last Updated On: November 14th, 2012] [Originally Added On: November 14th, 2012]
- News in Brief: Highlights from the American Society of Human Genetics annual meeting [Last Updated On: November 14th, 2012] [Originally Added On: November 14th, 2012]
- Star Visitors - Dr. Richard Boylan - Coast to Coast AM Classic - Video [Last Updated On: November 14th, 2012] [Originally Added On: November 14th, 2012]
- Protein Structural Biology In Biomedical Research, Part A - C. Woodward - Video [Last Updated On: November 14th, 2012] [Originally Added On: November 14th, 2012]