Publications by authors named "M D Muckian"
Article Synopsis
- The study focuses on assessing breast and ovarian cancer risks in the isolated populations of Orkney and Shetland, particularly through identifying genetic variants in the BRCA1 and BRCA2 genes.
- A specific BRCA2 variant (c.517-2A>G) was found to have a significantly higher frequency among individuals with Shetland ancestry, indicating a strong link with breast and ovarian cancer cases in these families.
- The researchers emphasize the potential for targeted genetic screening for this variant in women of Orcadian and Shetlandic descent, as most pathogenic BRCA variants in the region are due to this and another related variant.
Understanding the genetic basis of neuro-related proteins is essential for dissecting the molecular basis of human behavioural traits and the disease aetiology of neuropsychiatric disorders. Here the SCALLOP Consortium conducted a genome-wide association meta-analysis of over 12,000 individuals for 184 neuro-related proteins in human plasma. The analysis identified 125 cis-regulatory protein quantitative trait loci (cis-pQTL) and 164 trans-pQTL.
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- Understanding the genetic foundation of neuro-related proteins is vital for exploring human behavior and neuropsychiatric disorders.
- The SCALLOP Consortium analyzed genetic data from over 12,500 individuals, identifying numerous cis- and trans-regulatory loci affecting neuro-related proteins.
- Their findings also suggest potential causal relationships between these proteins and traits like sleep, smoking, mental health, and highlight new opportunities for drug repurposing and therapeutic targets.
Understanding the genetic basis of neuro-related proteins is essential for dissecting the disease etiology of neuropsychiatric disorders and other complex traits and diseases. Here, the SCALLOP Consortium conducted a genome-wide association meta-analysis of over 12,500 individuals for 184 neuro-reiated proteins in human plasma. The analysis identified 117 cis-regulatory protein quantitative trait loci (cis-pQTL) and 166 trans-pQTL.
View Article and Find Full Text PDFBackground: Epstein Barr virus (EBV) infects ~ 95% of the population worldwide and is known to cause adverse health outcomes such as Hodgkin's, non-Hodgkin's lymphomas, and multiple sclerosis. There is substantial interest and investment in developing infection-preventing vaccines for EBV. To effectively deploy such vaccines, it is vital that we understand the risk factors for infection.
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