A recent study published in Nature found that millions of pregnancies worldwide are lost each year due to new mutations in the fetus. The researchers discovered that essential genomic sequences are more frequently mutated in lost fetuses compared to adults.
Scientists at deCODE genetics identified associations between rare loss-of-function variants in HECTD2 and AKAP11 genes and the risk of bipolar disorder. The study suggests that these gene products may be promising targets for new treatments, as they interact with key cellular pathways involved in the disorder.
A new study maps the complete human genome recombination, identifying areas that balance diversity with stability. The research reveals key differences between men and women in recombination patterns, offering insights into infertility, genetic diversity, and disease risk.
A rare missense variant in STAT6 was found to protect against moderately severe to severe T2 high asthma. The variant reduces the capability of cells to respond to and further activate T2 inflammatory response.
A new study from deCODE genetics/Amgen highlights the importance of Body Mass Index (BMI) in disease pathology, suggesting that reducing BMI could lower the risk of various diseases. For some conditions like fatty liver disease and glucose intolerance, the genetic link to disease disappears when BMI is taken into account.
Researchers identified six novel genes associated with a significant increase in cancer risk, including BIK for prostate cancer, ATG12 for colorectal cancer, and CMTR2 for lung and melanoma. Loss of AURKB was found to protect against any cancer type, while loss of PPP1R15A was linked to a 53% lower risk of breast cancer.
A genome-wide association study found that three sequence variants in genes CCDC141 and SCN10A increase the risk of rhythm disturbances in individuals with accessory pathways. These variants are common, affecting up to 62% of carriers, and associate with increased conduction velocity and heart rate regulation.
Scientists have discovered a rare sequence variant in the CCDC201 gene that causes primary ovarian insufficiency, leading to an average of nine years earlier menopause. Women carrying two copies of this variant experience almost half of carriers having children after age 30.
Scientists at deCODE genetics have discovered rare sequence variants in ITSN1 linked to Parkinson's Disease. These variants may contribute to disease pathogenesis through CDC42 dysregulation and dopaminergic neuron degeneration.
Scientists at deCODE Genetics found that genome variants drive the correlation between DNA methylation and gene expression. The research uses new nanopore sequencing technology to analyze DNA sequences in real-time, revealing a link between noncoding sequence variants and diseases.
A start codon variant in the LAG3 gene is associated with decreased expression of the protein and increased risk of autoimmune thyroid disease. The variant, found in Iceland and Finland, has a founder effect and demonstrates the power of bottlenecked populations to identify rare disease-associated variants.
A new study identifies a strong recessive component in Alzheimer's disease, with high risks in homozygotes and compound heterozygotes. The R47H variant in the TREM2 gene disrupts Aβ clearance, leading to amyloid plaque accumulation and increased risk of Alzheimer's.
A new study from deCODE genetics analyzed 64,806 Icelanders to understand the rate and nature of mitochondrial DNA mutations and their maternal transmission. The research documents hypermutability at some positions in mtDNA, including the A>G mutation, which occurs frequently but typically disappears after several generations.
A study found a link between a variant in the SYCE2 gene and an increased risk of pregnancy loss. The variant affects chromosomal recombination, which is essential for meiosis and reproduction. The study involved over 114,000 women from Iceland, Denmark, and other countries.
A new study has identified genetic variants that protect against pericarditis, a disease characterized by inflammation of the heart's surrounding sac. The findings provide important insights into the pathogenesis of the disease and suggest that interleukin-1 may be an important contributor to pericarditis.
A recent study published in the New England Journal of Medicine found that 4% of Icelanders carry an actionable genotype associated with increased risk of cardiovascular, cancer, and metabolic diseases. These genotypes can lead to a three-year shorter median survival for carriers, particularly those with cancer-predisposing variants.
A comprehensive study found clonal hematopoiesis is prevalent in the elderly, associated with increased risk of hematological neoplasia and mortality. Smoking accelerates its development, while genetic variants predispose individuals to the condition.
A large international study has identified genetic variants associated with rare forms of migraine, providing insights into novel therapeutic targets. The study found associations with 44 variants, including three rare variants that point to distinct pathologies underlying different types of migraine.
A large-scale proteomics study from deCODE Genetics analyzed data from over 50,000 individuals across European, African, and Asian ancestry. The study identified over 80,000 associations between genetic variants and protein levels, as well as over 500,000 associations between diseases and other traits with protein levels.
A recent study published in Cell found that genetic variants can influence the risk of cardiovascular disease by interacting with environmental factors. For example, carriers of certain sequence variants are protected against the negative effects of alcohol consumption on coronary artery disease.
A large retrospective analysis using AI-powered proteomics data predicts major atherosclerotic cardiovascular disease events. The protein risk score captures additional risk beyond established factors and has the potential to be modified by treatment.
Researchers identified 12 rare genetic variants associated with QT interval prolongation, increasing the risk of severe heart rhythm abnormalities and sudden cardiac death. These variants can lead to a more precise clinical approach through improved identification and risk stratification, aligning with precision medicine principles.
Scientists have identified a genetic locus associated with voice pitch, found in the ABCC9 gene, which influences voice characteristics in both men and women. The study also reveals links between voice pitch and cardiovascular health, highlighting the complex relationship between vocal traits and human biology.
Scientists at deCODE genetics have discovered rare, protective loss-of-function variants that point to potential drug targets for NAFLD. The study identified biomarkers of disease and disease progression, which can help develop non-invasive diagnostic tools.
A study published in Arthritis & Rheumatology has identified CRTAC1 as a specific biomarker of osteoarthritis, associated with both prevalent and incident knee and hip OA. The protein is also a strong predictor of progression to joint replacements, holding promise for early diagnosis and treatment.
The study found 600 million SNPs and indels in 150 thousand genomes, corresponding to 7% of the theoretical possible variants. This large dataset allowed scientists to separate regions tolerant to sequence diversity from those not, shedding light on human survival and procreation.
Researchers have discovered sequence variants associated with a large increase in risk of seropositive rheumatoid arthritis. The study highlights the potential for repurposing drugs targeting key proteins involved in the JAK/STAT pathway.
Scientists at deCODE genetics analyzed levels of 4,719 proteins in plasma from 35,559 Icelanders, finding 18,084 associations between sequence variants and protein levels. The study integrated these findings with disease and trait associations, revealing novel connections.
Scientists at deCODE genetics in Iceland have published the first genetic map of the human genome developed using whole-genome sequence data. The study reveals that recombination and de novo mutation are linked mechanisms generating human diversity.
A study by deCODE Genetics reveals that most Icelanders have unmixed Norse or Gaelic ancestry, with a shift towards Norse dominance over time. The research also shows genetic divergence from ancestral populations in Scandinavia and the British-Irish Isles.
Scientists from deCODE genetics and academic colleagues report discovering genetic markers that impact individual baseline levels of prostate-specific antigen (PSA). Analyzing four SNPs in tandem with genetic risk factors detected by the deCODE ProstateCancer test yields substantial improvement in PSA screening efficacy.
deCODE's DNA-based tests measure genetic markers linked to increased cardiovascular conditions' risk. These tests provide doctors with a new tool for improving screening, prevention, and treatment.
The study found that couples related at a third cousin level have the highest number of offspring, with an average of 4.04 children and 9.17 grandchildren. The correlation holds true across different eras and urbanization levels, suggesting a biological basis for the association.
Scientists have discovered two common gene variants that regulate recombination rate in humans, which varies between men and women. These variants enable the distribution of evolutionary work between sexes, promoting genetic diversity while maintaining genome stability.
Scientists identified two SNPs in the LOXL1 gene that confer high risk of exfoliation glaucoma, a devastating eye disease. The variants account for virtually all cases of the condition, offering a promising target for therapy and potential elimination of the disease.