Browsing by Author "Jones, Sarah H."

Now showing 1 - 2 of 2
  • Thumbnail Image
    Item
    Genetically-predicted placental gene expression is associated with birthweight and adult body mass index
    (Springer Nature, 2023-01-06) Jasper, Elizabeth A.; Hellwege, Jacklyn N.; Piekos, Jacqueline A.; Jones, Sarah H.; Hartmann, Katherine E.; Mautz, Brian; Aronoff, David M.; Edwards, Todd L.; Velez Edwards, Digna R.; Medicine, School of Medicine
    The placenta is critical to human growth and development and has been implicated in health outcomes. Understanding the mechanisms through which the placenta influences perinatal and later-life outcomes requires further investigation. We evaluated the relationships between birthweight and adult body mass index (BMI) and genetically-predicted gene expression in human placenta. Birthweight genome-wide association summary statistics were obtained from the Early Growth Genetics Consortium (N = 298,142). Adult BMI summary statistics were obtained from the GIANT consortium (N = 681,275). We used S-PrediXcan to evaluate associations between the outcomes and predicted gene expression in placental tissue and, to identify genes where placental expression was exclusively associated with the outcomes, compared to 48 other tissues (GTEx v7). We identified 24 genes where predicted placental expression was significantly associated with birthweight, 15 of which were not associated with birthweight in any other tissue. One of these genes has been previously linked to birthweight. Analyses identified 182 genes where placental expression was associated with adult BMI, 110 were not associated with BMI in any other tissue. Eleven genes that had placental gene expression levels exclusively associated with BMI have been previously associated with BMI. Expression of a single gene, PAX4, was associated with both outcomes exclusively in the placenta. Inter-individual variation of gene expression in placental tissue may contribute to observed variation in birthweight and adult BMI, supporting developmental origins hypothesis.
  • Thumbnail Image
    Item
    What Results Should Be Returned from Opportunistic Screening in Translational Research?
    (MDPI, 2020-03) Halverson, Colin M. E.; Jones, Sarah H.; Novak, Laurie; Simpson, Christopher; Velez Edwards, Digna R.; Zhao, Sifang Kathy; Clayton, Ellen W.; Medicine, School of Medicine
    Increasingly, patients without clinical indications are undergoing genomic tests. The purpose of this study was to assess their appreciation and comprehension of their test results and their clinicians’ reactions. We conducted 675 surveys with participants from the Vanderbilt Electronic Medical Records and Genomics (eMERGE) cohort. We interviewed 36 participants: 19 had received positive results, and 17 were self-identified racial minorities. Eleven clinicians who had patients who had participated in eMERGE were interviewed. A further 21 of these clinicians completed surveys. Participants spontaneously admitted to understanding little or none of the information returned to them from the eMERGE study. However, they simultaneously said that they generally found testing to be “helpful,” even when it did not inform their health care. Primary care physicians expressed discomfort in being asked to interpret the results for their patients and described it as an undue burden. Providing genetic testing to otherwise healthy patients raises a number of ethical issues that warrant serious consideration. Although our participants were enthusiastic about enrolling and receiving their results, they express a limited understanding of what the results mean for their health care. This fact, coupled the clinicians’ concern, urges greater caution when educating and enrolling participants in clinically non-indicated testing.