• Endometriosis is not associated with or linked to the GALT gene

      Stefansson, H; Einarsdottir, A; Geirsson, R T; Jonsdottir, K; Sverrisdottir, G; Gudnadottir, V G; Gunnarsdottir, S; Manolescu, A; Gulcher, J; Stefansson, K; et al. (Elsevier for the American Society for Reproductive Medicine, 2001-11)
      OBJECTIVE: To investigate a possible association between the carrier frequency of the N314D mutation in the galactose-1-phosphate uridyl transferase (GALT) gene and endometriosis and linkage to the short arm of chromosome 9, where the GALT gene resides. DESIGN: Association and linkage study. SETTING: Population material collected for case and family studies in endometriosis. PATIENT(S): Women diagnosed with endometriosis by laparotomy or laparoscopy. INTERVENTION(S): Association with the GALT gene investigated by genotyping 85 affected women and 213 unrelated control women and a scan for linkage to chromosome 9 in 205 women from 64 families with endometriosis. MAIN OUTCOME MEASURE(S): Multipoint parametric lod scores and frequency of alleles. RESULT(S): There was no significant difference in allele frequency for the N314D polymorphism in patients compared with control subjects. No evidence for linkage was found to chromosome 9p, where the GALT gene resides. CONCLUSION(S): The experiments reported herein provide no evidence supporting involvement of the GALT locus in the development of endometriosis.
    • Polycystic ovary morphology: age-based ultrasound criteria.

      Kim, Hyun-Jun; Adams, Judith M; Gudmundsson, Jens A; Arason, Gudmundur; Pau, Cindy T; Welt, Corrine K; 1 Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts; Department of Obstetrics and Gynecology, School of Medicine, Konkuk University, ChungJu, South Korea. 2 Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts. 3 Department of Obstetrics and Gynecology, Landspitali University Hospital, Reykjavík, Iceland. 4 Laekning Lagmula, Reykjavík, Iceland. 5 Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts. Electronic address: cwelt@genetics.utah.edu. (Elsevier Science, 2017-09)
      To determine age-based criteria for polycystic ovary morphology.
    • Quantitative DNA perturbations of p53 in endometriosis: analysis of American and Icelandic cases.

      Gylfason, Jon Torfi; Dang, Dianne; Petursdottir, Vigdis; Benediktsdottir, Kristrun R; Geirsson, Reynir T; Poindexter, Alfred; Mitchell-Leef, Dorothy; Buster, John E; Carson, Sandra A; Simpson, Joe Leigh; et al. (Elsevier for the American Society for Reproductive Medicine, 2005-11-01)
      OBJECTIVE: To investigate quantitative aberrations involving p53 copy numbers in eutopic endometrial and endometriotic tissue from two populations. DESIGN: Comparative analysis of normal and diseased tissue. SETTING: Tissue specimens collected in Iceland and USA. PATIENT(S): Subjects with moderate/severe endometriosis (Iceland, n = 26; USA, n = 45). Paraffin-embedded tissue from 19 matched Icelandic cases and seven unaffected controls. American cases were fresh surgical tissue from 17 matched cases and 28 unaffected controls. DNA isolation and real-time polymerase chain reaction (PCR) with TaqMan assay were performed. MAIN OUTCOME MEASURE(S): The frequency of p53 loss and/or gain based on quantitative differences for copy numbers of p53 located on chromosome (17p) and GAPDH on a control locus (chromosome 12p). RESULT(S): Among American cases, significant p53 gain (n = 13) or loss (n = 4) was observed in 17 of 21 cases. In Icelandic cases this was not seen to the same degree. Mean normalized p53 values were 3.46 and 1.16 copies per reaction, respectively. Significant differences were observed between normalized p53 in the control blood and affected tissue for the American and Icelandic cases compared to standard GAPDH control but not in normal Icelandic and American endometrium. CONCLUSION(S): The results continue to support a role for nonrandom somatic p53 locus alterations in the pathogenesis of late or severe-stage endometriosis. Differences between Icelandic and American subjects have implications for generalization of genome-wide approaches.