rs12048392 - PEAR1
Magnitude 2.2 · 1 study on file
Reported associations
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Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia∗ - Unknown journal (n.d.) · Unknown authors · PubMed 38064665
ABSTRACT: Key Points PEAR1 and CBL variants demonstrate time-specific genetic influences on platelet count throughout the course of pregnancy. PEAR1 and TUBB1 variants play a major role in contributing to the genetic predisposition for GT and severe GT. Visual Abstract Abstract Platelet count reduction occurs throughout pregnancy, with 5% to 12% of pregnant women being diagnosed with gestational thrombocytopenia (GT), characterized by a more marked decrease in platelet count during pregnancy. However, the underlying biological mechanism behind these phenomena remains unclear. Here, we used sequencing data from noninvasive prenatal testing of 100 186 Chinese pregnant individuals and conducted, to our knowledge, the hitherto largest-scale genome-wide association studies on platelet counts
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Bloodwork
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complete blood count platelet count during pregnancy High
rs12048392-C confers 1.72-fold increased gestational thrombocytopenia risk; serial monitoring detects clinically significant decreases early
Obtain baseline CBC before conception or at first prenatal visit; repeat at each trimester
Discuss with your doctor
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PEAR1 rs12048392 variant status with obstetrician High
Carriers face elevated gestational thrombocytopenia risk with accelerated platelet decline during pregnancy; provider awareness informs monitoring intensity
Share genetic results at preconception or early pregnancy consultation