Expressive

rs11742584 - NDFIP1 - SPRY4

Magnitude 2.2 · 2 studies on file

Reported associations

  • Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program - Unknown journal (n.d.) · Unknown authors · PubMed 39024449

    ABSTRACT: INTRODUCTION: Findings from genome-wide association studies (GWASs) have provided foundational knowledge of the genetic basis of disease, facilitating precision approaches for prevention and treatment. Current GWAS results are limited by underrepresentation of individuals from diverse populations, leading to concerns with generalizability regarding our knowledge of the relationships between genes, traits, and disease. The Department of Veterans Affairs (VA) Million Veteran Program (MVP), one of the largest US-based biobanks, addresses this need; 29% of MVP comprises individuals genetically similar to African (AFR), Admixed American (AMR), and East Asian (EAS) reference populations. With over 635,000 participants and more than 44.3M genotyped variants linked with detailed phenotyp

  • 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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