Expressive

rs113998067 - GNL2 - RSPO1

Magnitude 2.8 · 2 studies on file

Reported associations

  • Mapping the proteo-genomic convergence of human diseases - Unknown journal (n.d.) · Unknown authors · PubMed 34648354

    ABSTRACT: Characterization of the genetic regulation of proteins is essential for understanding disease etiology and developing therapies. We identified 10,674 genetic associations for 3,892 plasma proteins to create a cis-anchored gene-protein-disease map of 1,859 connections that highlights strong cross-disease biological convergence. This proteo-genomic map provides a framework to 1) connect etiologically related diseases, 2) provide biological context for new or emerging disorders, and 3) integrate different biological domains to establish mechanisms for known gene-disease links. Our results identify proteo-genomic connections within and between diseases and establish the value of cis-protein variants for annotation of likely causal disease genes at GWAS loci, addressing a major barrie

  • Identification of nine new susceptibility loci for endometrial cancer - Unknown journal (n.d.) · Unknown authors · PubMed 30093612

    ABSTRACT: Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial cancer. Here, we present an expanded meta-analysis of 12,906 endometrial cancer cases and 108,979 controls (including new genotype data for 5624 cases) and identify nine novel genome-wide significant loci, including a locus on 12q24.12 previously identified by meta-GWAS of endometrial and colorectal cancer. At five loci, expression quantitative trait locus (eQTL) analyses identify candidate causal genes; risk alleles at two of these loci associate with decreased expression of genes, which encode negative regulators of oncogenic signal transduction proteins (SH

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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • hormone replacement therapy and reproductive factors Moderate

    rs113998067 amplifies endometrial cancer risk by upregulating estrogen receptor alpha signaling; unopposed estrogen exposure may increase risk further

    discuss necessity and type of any hormone therapy; review reproductive history and menopausal factors with physician

Lifestyle

  • body weight and BMI Moderate

    Mendelian randomization shows BMI causally increases endometrial cancer risk (OR=1.92 per SD); relevant for carriers of this elevated-risk variant

    maintain BMI 18.5-24.9 through balanced diet and regular physical activity; monitor weight regularly

Screening

  • endometrial cancer screening approach Moderate

    rs113998067 C allele increases endometrial cancer risk 27% (OR=1.27, p=2.6e-8) through RSPO1-mediated estrogen receptor signaling amplification

    discuss with gynecologist; consider baseline assessment and screening strategy based on age and symptom status