miércoles, 25 de octubre de 2023

Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis

https://pubmed.ncbi.nlm.nih.gov/37851445/ From the abstract: " What genetic modifiers of sickle cell disease (SCD) are currently defined, and what are potential approaches to improve future studies? In this systematic review and meta-analysis of 571 studies examining 29?670 individuals with SCD, 17?757 associations involving 1552 genes and 25 SCD phenotype categories were discovered; of these, only 173 associations met the study design, reporting, and phenotype or genotype harmonization required for meta-analysis. Gene variants regulating fetal hemoglobin and a-thalassemia were frequently identified, but other associations remained unconfirmed."

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