Publications by authors named "M Brumat"
Article Synopsis
- Researchers analyzed genetic data from over 785,000 individuals of European descent to find 43 specific genomic regions related to reproductive success, measured by the number of children and instances of childlessness.
- These genetic regions influence various factors tied to reproduction, such as puberty onset, age at first birth, and conditions like endometriosis, highlighting complex biological networks at play.
- The study also uncovered a potential trade-off between higher reproductive output and shortened reproductive lifespan in certain genes, suggesting some genetic traits are linked to ongoing natural selection affecting fertility.
Article Synopsis
- Increased blood lipid levels are linked to cardiovascular disease and are influenced by genetics, diet, and medication use globally.
- Despite advancements in treatment, heart disease remains the top cause of death, highlighting the need for continued research.
- A recent multi-ancestry GWAS encompassing 1.65 million individuals, including 350,000 from non-European backgrounds, emphasizes the importance of diverse genetic studies for better understanding lipid levels and improving clinical applications of genetic findings.
Human eye color is highly heritable, but its genetic architecture is not yet fully understood. We report the results of the largest genome-wide association study for eye color to date, involving up to 192,986 European participants from 10 populations. We identify 124 independent associations arising from 61 discrete genomic regions, including 50 previously unidentified.
View Article and Find Full Text PDFPatients with sickle cell disease (SCD) with high fetal haemoglobin (HbF) tend to have a lower incidence of complications and longer survival due to inhibition of deoxyhaemoglobin S (HbS) polymerisation by HbF. HbF-containing cells, namely F cells, are strongly influenced by genetic factors. We measured the percentage of F cells (Fcells%) in 222 patients with SCD to evaluate the association of (i) Fcells% with genetic HbF-modifier variants and (ii) Fcells% with haematological parameters.
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