Expressive

rs10748447 - SLC38A4-AS1

Magnitude 2.0 · 2 studies on file

Reported associations

  • Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses. - Nature medicine (2025) · Pujol Gualdo N, Džigurski J, Rukins V, Pajuste FD, Wolford BN, Võsa M, Golob M, Haug L, Alver M, Läll K, Peters M, Brumpton BM, Palta P, Mägi R, Laisk T · PubMed 40069456

    The genetic background of many female reproductive health diagnoses remains uncharacterized, compromising our understanding of the underlying biology. Here, we map the genetic architecture across 42 female-specific health conditions using data from up to 293,618 women from two large population-based cohorts, the Estonian Biobank and the FinnGen study. Our study illustrates the utility of genetic analyses in understanding women's health better. As specific examples, we describe genetic risk factors for ovarian cysts that elucidate the genetic determinants of folliculogenesis and, by leveraging population-specific variants, uncover new candidate genes for uterine fibroids. We find that most female reproductive health diagnoses have a heritable component, with varying degrees of polygenicity

  • Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology - Unknown journal (n.d.) · Unknown authors · PubMed 34560273

    ABSTRACT: Brain morphology has been shown to be highly heritable, yet only a small portion of the heritability is explained by the genetic variants discovered so far. Here we extended the Multivariate Omnibus Statistical Test (MOSTest) and applied it to genome-wide association studies (GWAS) of vertex-wise structural magnetic resonance imaging (MRI) cortical measures from N=35,657 participants in the UK Biobank. We identified 695 loci for cortical surface area and 539 for cortical thickness, in total 780 unique genetic loci associated with cortical morphology robustly replicated in 8,060 children of mixed ethnicity from the Adolescent Brain Cognitive Development (ABCD) Study®. This reflects more than 8-fold increase in genetic discovery at no cost to generalizability compared to the commo

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