Associated tags: Amgen, Genetic distance, Genetics, Disease, Vaccine, Genome, Paper, AMGN, Plasma, UK Biobank, Protein, Proteomics, Nature Genetics
Locations: FINLAND, USA, FRANCE, GERMANY, SPAIN, UNITED KINGDOM, UNITED STATES OF AMERICA, ICELAND, DENMARK, UK
Woman,
Synaptonemal complex,
Genetic distance,
Biology,
Genome-wide association study,
Genetics,
Meiosis,
Risk,
Pregnancy,
Chromosome,
Genome,
AMGN Over 114 thousand women from Iceland, Denmark, the UK, USA, and Finland who have experienced pregnancy loss participated in a genome-wide association study, testing 50 million sequence variants.
Key Points:
- Over 114 thousand women from Iceland, Denmark, the UK, USA, and Finland who have experienced pregnancy loss participated in a genome-wide association study, testing 50 million sequence variants.
- A low-frequency missense variant in the SYCE2 gene was found to increase the risk of pregnancy loss by 22%.
- The association with pregnancy loss does not account for embryos lost in early gestation before pregnancy has been detected so the effect of the variant on pregnancy success may be underestimated.
- The findings reported in this study demonstrate that a variant with a substantial effect on recombinations can be maintained in the population despite increasing the risk of pregnancy loss.
Woman,
Synaptonemal complex,
Genetic distance,
Biology,
Genome-wide association study,
Genetics,
Meiosis,
Risk,
Pregnancy,
Chromosome,
Genome,
AMGN Over 114 thousand women from Iceland, Denmark, the UK, USA, and Finland who have experienced pregnancy loss participated in a genome-wide association study, testing 50 million sequence variants.
Key Points:
- Over 114 thousand women from Iceland, Denmark, the UK, USA, and Finland who have experienced pregnancy loss participated in a genome-wide association study, testing 50 million sequence variants.
- A low-frequency missense variant in the SYCE2 gene was found to increase the risk of pregnancy loss by 22%.
- The association with pregnancy loss does not account for embryos lost in early gestation before pregnancy has been detected so the effect of the variant on pregnancy success may be underestimated.
- The findings reported in this study demonstrate that a variant with a substantial effect on recombinations can be maintained in the population despite increasing the risk of pregnancy loss.
Retrieved on:
Wednesday, November 15, 2023
Icelanders,
ACMG,
Disclosure,
Genetics,
Breast,
Gene,
Genetic distance,
Proteomics,
Risk,
Disease,
Cholesterol,
Cardiovascular disease,
Paper,
DSM-IV codes,
Icelandic,
Medicine,
Prostate cancer,
American College,
Genome,
Genotype,
Survival,
Medical genetics,
Government,
AMGN,
Vaccine,
Pharmaceutical industry,
Genomics,
LDLR,
Amgen REYKJAVIK, Iceland, Nov. 15, 2023 /PRNewswire/ -- The study, published today in the New England Journal of Medicine, focuses on genotypes that increase the risk of a disease for which preventive or therapeutic measures have been established. These genotypes are termed actionable genotypes. The scientists used a population-based data set, consisting of 58,000 whole-genome sequenced Icelanders, to assess the fraction of individuals carrying actionable genotypes.
Key Points:
- The scientists used a population-based data set, consisting of 58,000 whole-genome sequenced Icelanders, to assess the fraction of individuals carrying actionable genotypes.
- The study assessed the relationship between actionable genotypes and the lifespan of their carriers.
- A pathogenic variant in BRCA2, predisposing to breast, ovarian and pancreatic cancer, shortened lifespan by seven years and a variant in LDLR, which causes high levels of cholesterol and cardiovascular disease, shortened lifespan by six years.
- The researchers determined that 1 in 25 individuals carried an actionable genotype and have, on average, a shortened lifespan.
Retrieved on:
Wednesday, November 15, 2023
Icelanders,
ACMG,
Disclosure,
Genetics,
Breast,
Gene,
Genetic distance,
Proteomics,
Risk,
Disease,
Cholesterol,
Cardiovascular disease,
Paper,
DSM-IV codes,
Icelandic,
Medicine,
Prostate cancer,
American College,
Genome,
Genotype,
Survival,
Medical genetics,
Government,
AMGN,
Vaccine,
Pharmaceutical industry,
Genomics,
LDLR,
Amgen REYKJAVIK, Iceland, Nov. 8, 2023 /PRNewswire/ -- The study, published today in the New England Journal of Medicine, focuses on genotypes that increase the risk of a disease for which preventive or therapeutic measures have been established. These genotypes are termed actionable genotypes. The scientists used a population-based data set, consisting of 58,000 whole-genome sequenced Icelanders, to assess the fraction of individuals carrying actionable genotypes.
Key Points:
- The scientists used a population-based data set, consisting of 58,000 whole-genome sequenced Icelanders, to assess the fraction of individuals carrying actionable genotypes.
- The study assessed the relationship between actionable genotypes and the lifespan of their carriers.
- A pathogenic variant in BRCA2, predisposing to breast, ovarian and pancreatic cancer, shortened lifespan by seven years and a variant in LDLR, which causes high levels of cholesterol and cardiovascular disease, shortened lifespan by six years.
- The researchers determined that 1 in 25 individuals carried an actionable genotype and have, on average, a shortened lifespan.
Stem cell,
Genetic distance,
Haematopoiesis,
Peripheral artery disease,
Epidemiology,
Smoking,
Clonal hematopoiesis,
Lung cancer,
Genetics,
Mortality,
Bone marrow,
Health,
Carcinoma,
UK Biobank,
CH,
Emphysema,
Genome,
Disease,
Risk,
HSC,
AMGN,
Gene,
Chronic obstructive pulmonary disease,
Gene expression,
Mutation,
Cardiovascular disease,
Vaccine,
Amgen,
Nature Genetics Clonal hematopoiesis is a condition that arises when a single clonal lineage of hematopoietic stem cells (HSC) expands and becomes the source of a substantial proportion of mature blood cells.
Key Points:
- Clonal hematopoiesis is a condition that arises when a single clonal lineage of hematopoietic stem cells (HSC) expands and becomes the source of a substantial proportion of mature blood cells.
- The study reaffirmed that clonal hematopoiesis is very common in the elderly, approaching 50% in people over 80 years old.
- Clonal hematopoiesis has many of the hallmarks of a premalignant expansion of cell clones with a potential to become cancerous.
- Overall, the study has provided substantial insights into the genetics and epidemiology of clonal hematopoiesis.
Stem cell,
Genetic distance,
Haematopoiesis,
Peripheral artery disease,
Epidemiology,
Smoking,
Clonal hematopoiesis,
Lung cancer,
Genetics,
Mortality,
Bone marrow,
Health,
Carcinoma,
UK Biobank,
CH,
Emphysema,
Genome,
Disease,
Risk,
HSC,
AMGN,
Gene,
Chronic obstructive pulmonary disease,
Gene expression,
Mutation,
Cardiovascular disease,
Vaccine,
Amgen,
Nature Genetics Clonal hematopoiesis is a condition that arises when a single clonal lineage of hematopoietic stem cells (HSC) expands and becomes the source of a substantial proportion of mature blood cells.
Key Points:
- Clonal hematopoiesis is a condition that arises when a single clonal lineage of hematopoietic stem cells (HSC) expands and becomes the source of a substantial proportion of mature blood cells.
- The study reaffirmed that clonal hematopoiesis is very common in the elderly, approaching 50% in people over 80 years old.
- Clonal hematopoiesis has many of the hallmarks of a premalignant expansion of cell clones with a potential to become cancerous.
- Overall, the study has provided substantial insights into the genetics and epidemiology of clonal hematopoiesis.
Retrieved on:
Thursday, October 26, 2023
Genetic distance,
Chronic pain,
Aura,
FinnGen,
Genetics,
Intermountain Health,
PRRT2,
DeCODE genetics,
UK Biobank,
Migraine,
Genome,
Disease,
Risk,
Biology,
Nature Genetics,
AMGN,
Gene,
KCNK5,
Epilepsy,
Myenteric plexus,
Aneurysm,
Aroma compound,
Vaccine,
Amgen The scientists focused on detecting sequence variants associated with the the two main subtypes of migraine: migraine with aura (often referred to as classical migraine) and migraine without aura.
Key Points:
- The scientists focused on detecting sequence variants associated with the the two main subtypes of migraine: migraine with aura (often referred to as classical migraine) and migraine without aura.
- The results highlight several genes that affect one of these migraine subtypes over the other, and point to new biological pathways that could be targeted for therapeutic developments.
- Four novel migraine with aura associations were revealed and 13 variants associated primarily with migraine without aura.
- Of particular interest were three rare variants with large effects pointing to distinct pathologies underlying different types of migraine.
Retrieved on:
Thursday, October 26, 2023
Genetic distance,
Chronic pain,
Aura,
FinnGen,
Genetics,
Intermountain Health,
PRRT2,
DeCODE genetics,
UK Biobank,
Migraine,
Genome,
Disease,
Risk,
Biology,
Nature Genetics,
AMGN,
Gene,
KCNK5,
Epilepsy,
Myenteric plexus,
Aneurysm,
Aroma compound,
Vaccine,
Amgen The scientists focused on detecting sequence variants associated with the the two main subtypes of migraine: migraine with aura (often referred to as classical migraine) and migraine without aura.
Key Points:
- The scientists focused on detecting sequence variants associated with the the two main subtypes of migraine: migraine with aura (often referred to as classical migraine) and migraine without aura.
- The results highlight several genes that affect one of these migraine subtypes over the other, and point to new biological pathways that could be targeted for therapeutic developments.
- Four novel migraine with aura associations were revealed and 13 variants associated primarily with migraine without aura.
- Of particular interest were three rare variants with large effects pointing to distinct pathologies underlying different types of migraine.
Retrieved on:
Wednesday, October 4, 2023
AMGN,
UK Biobank,
Genetic distance,
Genetics,
UKB,
Proteome,
Biomarker,
Proteomics,
Kingdom of Poland,
Plasma,
Protein,
DeCODE genetics,
Paper,
Genome,
Disease,
Vaccine,
Amgen,
Nature REYKJAVIK, Iceland, Oct. 4, 2023 /PRNewswire/ -- In a paper released today, deCODE Genetics' scientists shared their findings from a plasma proteomics study performed using affinity-based methods.
Key Points:
- REYKJAVIK, Iceland, Oct. 4, 2023 /PRNewswire/ -- In a paper released today, deCODE Genetics' scientists shared their findings from a plasma proteomics study performed using affinity-based methods.
- The study's focus on the plasma proteome led the team to find associations between various diseases and the levels of specific proteins.
- The data were generated by the UK Biobank Pharma Proteomics Project (UKB-PPP), a consortium of thirteen biopharmaceutical companies, including Amgen, studying circulating protein biomarkers.
- By examining large cohorts in Iceland and the UK, a substantial number of associations could be detected, making the comparison meaningful.
Retrieved on:
Wednesday, October 4, 2023
AMGN,
UK Biobank,
Genetic distance,
Genetics,
UKB,
Proteome,
Biomarker,
Proteomics,
Kingdom of Poland,
Plasma,
Protein,
DeCODE genetics,
Paper,
Genome,
Disease,
Vaccine,
Amgen,
Nature REYKJAVIK, Iceland, Oct. 4, 2023 /PRNewswire/ -- In a paper released today, deCODE Genetics' scientists shared their findings from a plasma proteomics study performed using affinity-based methods.
Key Points:
- REYKJAVIK, Iceland, Oct. 4, 2023 /PRNewswire/ -- In a paper released today, deCODE Genetics' scientists shared their findings from a plasma proteomics study performed using affinity-based methods.
- The study's focus on the plasma proteome led the team to find associations between various diseases and the levels of specific proteins.
- The data were generated by the UK Biobank Pharma Proteomics Project (UKB-PPP), a consortium of thirteen biopharmaceutical companies, including Amgen, studying circulating protein biomarkers.
- By examining large cohorts in Iceland and the UK, a substantial number of associations could be detected, making the comparison meaningful.
