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Heritable aspects of endometriosis

I. Genetic studies
  • Joe Leigh Simpson
    Correspondence
    Reprint requests: Joe Leigh Simpson, M.D., Section of Human Genetics, 333 E. Superior St., Chicago, Illinois 60611
    Affiliations
    Department of Obstetrics and Gynecology, Northwestern University Medical School, Chicago, Illinois, USA

    Department of Obstetrics and Gynecology, Baylor College of Medicine Houston, Texas, USA
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  • Sherman Elias
    Affiliations
    Department of Obstetrics and Gynecology, Northwestern University Medical School, Chicago, Illinois, USA

    Department of Obstetrics and Gynecology, Baylor College of Medicine Houston, Texas, USA
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  • L.Russell Malinak
    Affiliations
    Department of Obstetrics and Gynecology, Northwestern University Medical School, Chicago, Illinois, USA

    Department of Obstetrics and Gynecology, Baylor College of Medicine Houston, Texas, USA
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  • Veasy C. Buttram Jr.
    Affiliations
    Department of Obstetrics and Gynecology, Northwestern University Medical School, Chicago, Illinois, USA

    Department of Obstetrics and Gynecology, Baylor College of Medicine Houston, Texas, USA
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      Abstract

      Systematic genetic studies in endometriosis apparently have not been conducted; therefore, we studied 123 patients with histologically proved endometriosis. Nine of 153 (5.8%) female sibs (over age 18) of patients with histologically proved endometriosis were considered similarly affected; 10 of 123 mothers (8.1%) were affected; 19 of 276 (6.9%) of all first-degree relatives were affected. By contrast, only one of 104 (1.0%) female sibs of their husbands and only one of 107 (0.9%) mothers of their husbands were affected, significantly (p < 0.05) less for both sibs and mothers. Several genetic etiologies can be postulated, but polygenic/multifactorial inheritance seems most likely because of (1) the 6.9% recurrence risk for all first-degree relatives and (2) observations that the 18 patients with an affected first-degree relative were more likely to have severe endometriosis than those without an affected first-degree relative.
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