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

ABSTRACT:

Importance

Sickle cell disease (SCD) is a monogenic disorder, yet clinical outcomes are influenced by additional genetic factors. Despite decades of research, the genetics of SCD remain poorly understood.

Objective

To assess all reported genetic modifiers of SCD, evaluate the design of associated studies, and provide guidelines for future analyses according to modern genetic study recommendations.

Data sources

PubMed, Web of Science, and Scopus were searched through May 16, 2023, identifying 5290 publications.

Study selection

At least 2 reviewers identified 571 original, peer-reviewed English-language publications reporting genetic modifiers of human SCD phenotypes, wherein the outcome was not treatment response, and the comparison was not between SCD subtypes

SUBMITTER: Kirkham JK 

PROVIDER: S-EPMC10585422 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature