Expressive

rs113828443 - RPL38P3 - RNU6-410P

Magnitude 2.2 · 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

  • Genetic effects on the timing of parturition and links to fetal birth weight - Unknown journal (n.d.) · Unknown authors · PubMed 37012456

    ABSTRACT: The timing of parturition is crucial for neonatal survival and infant health. Yet, its genetic basis remains largely unresolved. We present a maternal genome-wide meta-analysis of gestational duration (n = 195,555), identifying 22 associated loci (24 independent variants) and an enrichment in genes differentially expressed during labor. A meta-analysis of preterm delivery (18,797 cases, 260,246 controls) revealed seven associated loci and large genetic similarities with gestational duration. Analysis of the parental transmitted and nontransmitted alleles (n = 136,833) shows that 15 of the gestational duration genetic variants act through the maternal genome, whereas 7 act both through the maternal and fetal genomes and 2 act only via the fetal genome. Finally, the materna

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