18Nov 2022
Targeted Genome Sequencing Identifies Multiple Rare Variants in Caveolin-1 Associated with Obstructive Sleep Apnea

Targeted Genome Sequencing Identifies Multiple Rare Variants in Caveolin-1 Associated with Obstructive Sleep Apnea

The objective was to search for rare variants contributing to OSA severity. Linkage analysis in the CFS identified a suggestive linkage peak on chromosome 7q31. After accounting for multiple comparisons, the gene-based analysis identified 21 rare noncoding variants in CAV1 (Caveolin-1) associated with lower AHI. These noncoding variants significantly contributed to the linkage evidence. Rare variants in CAV1, a membrane-scaffolding protein essential in multiple cellular and metabolic functions, are associated with higher CAV1 gene expression and lower OSA severity, suggesting a novel target for modulating OSA severity.

  • #critical care

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