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<p>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 and discoverability. Finally, we identify pleiotropic loci and genes that function in genital tract development (<i>WNT4</i>, <i>PAX8</i>, <i>WT1</i>, <i>SALL1</i>), hormonal regulation (<i>FSHB</i>, <i>GREB1</i>, <i>BMPR1B</i>, <i>SYNE1</i>/<i>ESR1</i>) and folliculogenesis (<i>CHEK2</i>), underlining their integral roles in female reproductive health.</p>

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Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses

  • 期刊论文

  • 发表日期：

    2025年3月11日

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  • Natàlia Pujol Gualdo,
  • Jelisaveta Džigurski,
  • Valentina Rukins,
  • Fanny-Dhelia Pajuste,
  • Brooke N. Wolford,
  • Mariann Võsa,
  • Mia Golob,
  • Lisette Haug,
  • Maris Alver,
  • Kristi Läll,
  • Maire Peters,
  • Ben M. Brumpton,
  • Andres Metspalu,
  • Lili Milani,
  • Tõnu Esko,
  • Mari Nelis,
  • Georgi Hudjashov,
  • Priit Palta,
  • Reedik Mägi,
  • Triin Laisk

摘要

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 and discoverability. Finally, we identify pleiotropic loci and genes that function in genital tract development (WNT4, PAX8, WT1, SALL1), hormonal regulation (FSHB, GREB1, BMPR1B, SYNE1/ESR1) and folliculogenesis (CHEK2), underlining their integral roles in female reproductive health.