Publications by authors named "A Sanchez-Mazas"
The most frequent HLA alleles around the world: A fundamental synopsis.
Best Pract Res Clin Haematol
June 2024
A comprehensive knowledge of human leukocyte antigen (HLA) molecular variation worldwide is essential in human population genetics research and disease association studies and is also indispensable for clinical applications such as allogeneic hematopoietic cell transplantation, where ensuring HLA compatibility between donors and recipients is paramount. Enormous progress has been made in this field thanks to several decades of HLA population studies allowing the development of helpful databases and bioinformatics tools. However, it is still difficult to appraise the global HLA population diversity in a synthetic way.
View Article and Find Full Text PDFAs part of the worldwide effort to better characterize HLA diversity in populations, we have studied the population of Québec in Canada. This province has been defined by a complex history with multiple founder effects and migration patterns. We analyzed the typing data of 3806 individuals registered in Héma-Québec's Registry, which covered most administrative regions in Québec.
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- Population differences significantly impact disease severity and treatment effects in biomedical research, yet there is a lack of rigorous practices in labeling subpopulations, especially for complex diseases like cancer.
- Current classification terms like "Black" and "Caucasian" are overly broad and outdated, leading to inconsistencies in clinical research and potentially obscuring other critical factors influencing health.
- To improve biomedical practices, a collaborative effort among various disciplines is needed to create clearer, more scientifically accurate labeling and to address the complexities of human diversity in medical research.
In a recent article, Immel et al. (Immel A, Key FM, Szolek A, Barquera R, Robinson MK, Harrison GF, Palmer WH, Spyrou MA, Susat J, Krause-Kyora B, et al. 2021.
View Article and Find Full Text PDFHuman leukocyte antigen (HLA) genes are among the most polymorphic of our genome, as a likely consequence of balancing selection related to their central role in adaptive immunity. HLA-A and HLA-B genes were recently suggested to evolve through a model of joint divergent asymmetric selection conferring all human populations, including those with severe loss of diversity, an equivalent immune potential. However, the mechanisms by which these two genes might undergo joint evolution while displaying very distinct allelic profiles in populations are still unknown.
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