Expressive

rs10180515 - CXCR4 - HNRNPKP2

Magnitude 2.2 · 2 studies on file

Reported associations

  • 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

  • Multi-trait GWAS for diverse ancestries: mapping the knowledge gap - Unknown journal (n.d.) · Unknown authors · PubMed 38627641

    ABSTRACT: Background Approximately 95% of samples analyzed in univariate genome-wide association studies (GWAS) are of European ancestry. This bias toward European ancestry populations in association screening also exists for other analyses and methods that are often developed and tested on European ancestry only. However, existing data in non-European populations, which are often of modest sample size, could benefit from innovative approaches as recently illustrated in the context of polygenic risk scores. Methods Here, we extend and assess the potential limitations and gains of our multi-trait GWAS pipeline, JASS (Joint Analysis of Summary Statistics), for the analysis of non-European ancestries. To this end, we conducted the joint GWAS of 19 hematological traits and glycemic traits acro

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