A genome-wide meta-analysis identifies a sex-specific genetic effect for platelet aggregation in response to agonists

A 20 kb region on chromosome 10 is linked to sex-specific genetic effects on low-dose epinephrine–stimulated platelet aggregation, with rs116725046 showing p = 6.7 x 10-9.

• Why it matters: Sex differences in thrombotic risk may reflect dimorphic platelet reactivity, but the genetic basis for how sex modifies platelet aggregation responses is not well defined.
• What they did: Whole-genome sequencing–based GWAS meta-analysis across GeneSTAR, Framingham Heart Study, and Old Order Amish tested 19 aggregation phenotypes to ADP, epinephrine, and collagen, focusing on low-dose EPI.
• The result: Female carriers had increased aggregation while male carriers had decreased aggregation across cohorts, implicating intronic LINC00702 regulatory activity and sex-differentiated eQTL patterns.

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