Publications by authors named "Y Louzoun"
Article Synopsis
- Questions remain about the role of race and geographic ancestry in biomedical research, particularly how they can enhance matching algorithms for human leukocyte antigen (HLA) in stem cell transplants from donor registries.
- Analysis of self-reported racial and ancestral data from over 100,000 U.S. bone marrow donors shows discrepancies among these measures; using both race and geographic ancestry together yields the best fit for HLA genetic ancestry.
- The findings suggest that while direct matching for transplants doesn't use these data, incorporating both race and geographic ancestry is valuable for improving predictions of HLA compatibility in donor registries.
The Hardy-Weinberg equilibrium (HWE) assumption is essential to many population genetics models. Multiple tests were developed to test its applicability in observed genotypes. Current methods are divided into exact tests applicable to small populations and a small number of alleles, and approximate goodness-of-fit tests.
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- The study investigates a specific genetic variant in the IP3 receptor that results in a significant disorder affecting multiple systems, characterized by immunodeficiency and disturbed calcium release in cells.
- The variant (c.7570C>T, p.Arg2524Cys) leads to cellular defects, particularly impacting T cells, and is shown to affect calcium regulation and mitochondrial function, evidenced in laboratory models.
- Patients exhibited a range of symptoms beyond immunodeficiency, such as ectodermal dysplasia and short stature, suggesting that this genetic mutation plays a unique and broader role in disease compared to previously documented cases.
Objective: Identifying biomarkers that can distinguish trauma-exposed youth at risk for developing posttraumatic pathology from resilient individuals is essential for targeted interventions. As trauma can alter the microbiome with lasting effects on the host, our longitudinal, multimeasure, cross-species study aimed to identify the microbial signature of posttraumatic stress disorder (PTSD).
Method: We followed children exposed to war-related trauma and matched controls from early childhood ( = 2.
The outcome of Hematopoietic Stem Cell (HSCT) and organ transplant is strongly affected by the matching of the HLA alleles of the donor and the recipient. However, donors and sometimes recipients are often typed at low resolution, with some alleles either missing or ambiguous. Thus, imputation methods are required to detect the most probably high-resolution HLA haplotypes consistent with a typing.
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