Expressive

rs10891420 - LINC02763

Magnitude 2.2 · 3 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

  • Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata - Unknown journal (n.d.) · Unknown authors · PubMed 36726022

    ABSTRACT: Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1 A pathway. Our results further suggest t

  • Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups - Unknown journal (n.d.) · Unknown authors · PubMed 40050615

    ABSTRACT: Uterine leiomyomata or fibroids are highly heritable, common, and benign tumors of the uterus with poorly understood etiology. Previous GWAS have reported 72 associated genes but included limited numbers of non-European individuals. Here, we identify 11 novel genes associated with fibroids across multi-ancestry and ancestry-stratified GWAS analyses. We replicate a known fibroid GWAS gene in African ancestry individuals and estimate the SNP-based heritability of fibroids in African ancestry populations as 15.9%. Using genetically predicted gene expression and colocalization analyses, we identify 46 novel genes associated with fibroids. These genes are significantly enriched in cancer, cell death and survival, reproductive system disease, and cellular growth and proliferation netwo

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