Publications by authors named "T Rafnar"
Article Synopsis
- Researchers analyzed genetic data from nearly 130,000 cancer patients and over 730,000 healthy controls to identify variants linked to cancer risk across 22 cancer types.
- Four high-risk genes were found: BIK (prostate cancer), ATG12 (colorectal cancer), TG (thyroid cancer), and CMTR2 (lung cancer and melanoma).
- Additionally, two genes, AURKB (general cancer risk) and PPP1R15A (breast cancer), were associated with decreased cancer risk, indicating potential pathways for cancer prevention strategies.
Article Synopsis
- Human genetic studies reveal new insights into the biological processes of ovarian aging through rare protein-coding variants in a large study of women.
- The genes identified (e.g., SAMHD1 and ZNF518A) show stronger effects on reproductive lifespan and cancer risk compared to common variants, with some variants linked to earlier menopause.
- The research suggests a connection between genetic factors influencing ovarian aging and an increased incidence of de novo mutations, highlighting the importance of DNA damage response in fertility.
Age at menopause (AOM) has a substantial impact on fertility and disease risk. While many loci with variants that associate with AOM have been identified through genome-wide association studies (GWAS) under an additive model, other genetic models are rarely considered. Here through GWAS meta-analysis under the recessive model of 174,329 postmenopausal women from Iceland, Denmark, the United Kingdom (UK; UK Biobank) and Norway, we study low-frequency variants with a large effect on AOM.
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- Multiple myeloma (MM) is a type of cancer affecting plasma cells, with a significant genetic component that is not fully understood.
- A large genome-wide study identified 35 risk loci related to MM, including 12 new ones, and revealed two main inherited risk factors: longer telomeres and higher levels of B-cell maturation antigen (BCMA) and interleukin-5 receptor alpha (IL5RA) in the blood.
- The genetic variant rs34562254-A increases the risk of MM by enhancing B-cell responses, contrasting with loss-of-function variants in TNFRSF13B that lead to B-cell immunodeficiency.
Gene promoter and enhancer sequences are bound by transcription factors and are depleted of methylated CpG sites (cytosines preceding guanines in DNA). The absence of methylated CpGs in these sequences typically correlates with increased gene expression, indicating a regulatory role for methylation. We used nanopore sequencing to determine haplotype-specific methylation rates of 15.
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