{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T11:48:31Z","timestamp":1787226511554,"version":"build-2736575974"},"reference-count":35,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2011,8]]},"abstract":"<jats:sec>\n            <jats:title>Background\u2014<\/jats:title>\n            <jats:p>Peripartum (PP) cardiomyopathy (CM) is a rare condition of unknown etiology that occurs in late pregnancy or early postpartum. Initial evidence suggests that genetic factors may influence PPCM. This study evaluated and replicated genome-wide association of single nucleotide polymorphisms with PPCM.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results\u2014<\/jats:title>\n            <jats:p>\n              Genome-wide single nucleotide polymorphisms in women with verified PPCM diagnosis (n=41) were compared separately with local control subjects (n=49 postmenopausal age-discordant women with parity \u22651 and no heart failure) and iControls (n=654 women ages 30 to 84 years with unknown phenotypes). A replication study of independent population samples used new cases (PPCM2, n=30) compared with new age-discordant control subjects (local2, n=124) and with younger control subjects (n=89) and obstetric control subjects (n=90). A third case set of pregnancy-associated CM cases not meeting strict PPCM definitions (n=29) was also studied. In the genome-wide association study, 1 single nucleotide polymorphism (rs258415) met genome-wide significance for PPCM versus local control subjects (\n              <jats:italic>P<\/jats:italic>\n              =2.06\u00d710\n              <jats:sup>\u22128<\/jats:sup>\n              ; odds ratio [OR], 5.96). This was verified versus iControls (\n              <jats:italic>P<\/jats:italic>\n              =7.92\u00d710\n              <jats:sup>\u221219<\/jats:sup>\n              ; OR, 8.52). In the replication study for PPCM2 cases, rs258415 (ORs are per C allele) replicated at\n              <jats:italic>P<\/jats:italic>\n              =0.009 versus local2 control subjects (OR, 2.26). This replication was verified for PPCM2 versus younger control subjects (\n              <jats:italic>P<\/jats:italic>\n              =0.029; OR, 2.15) and versus obstetric control subjects (\n              <jats:italic>P<\/jats:italic>\n              =0.013; OR, 2.44). In pregnancy-associated cardiomyopathy cases, rs258415 had a similar effect versus local2 control subjects (\n              <jats:italic>P<\/jats:italic>\n              =0.06; OR, 1.79), younger control subjects (\n              <jats:italic>P<\/jats:italic>\n              =0.14; OR, 1.65), and obstetric control subjects (\n              <jats:italic>P<\/jats:italic>\n              =0.038; OR, 1.99).\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions\u2014<\/jats:title>\n            <jats:p>\n              Genome-wide association with PPCM was discovered and replicated for rs258415 at chromosome 12p11.22 near\n              <jats:italic>PTHLH<\/jats:italic>\n              . This study indicates a role of genetic factors in PPCM and provides a new locus for further pathophysiological and clinical investigation.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgenetics.110.959205","type":"journal-article","created":{"date-parts":[[2011,6,11]],"date-time":"2011-06-11T03:41:53Z","timestamp":1307763713000},"page":"359-366","source":"Crossref","is-referenced-by-count":75,"title":["Genome-Wide Significance and Replication of the Chromosome 12p11.22 Locus Near the\n            <i>PTHLH<\/i>\n            Gene for Peripartum Cardiomyopathy"],"prefix":"10.1161","volume":"4","author":[{"given":"Benjamin D.","family":"Horne","sequence":"first","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kismet D.","family":"Rasmusson","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rami","family":"Alharethi","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Budge","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly D.","family":"Brunisholz","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Torri","family":"Metz","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John F.","family":"Carlquist","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer J.","family":"Connolly","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. Flint","family":"Porter","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald L.","family":"Lapp\u00e9","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph B.","family":"Muhlestein","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Silver","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josef","family":"Stehlik","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James J.","family":"Park","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi T.","family":"May","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tami L.","family":"Bair","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey L.","family":"Anderson","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); the Genetic Epidemiology Division, University of Utah (B.D.H.); Maternal-Fetal Medicine, Intermountain Medical Center (T.M., T.F.P., R.S.); the Department of Obstetrics and Gynecology (T.M., T.F.P., R.S.); and the Cardiology Division, University of Utah, Salt Lake City, UT (J.F.C., J.B.M., J.S., J.L.A., D.G.R., A.G.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dale G.","family":"Renlund","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Department, Intermountain Medical Center (B.D.H., K.D.R., R.A., D.B., K.D.B., J.F.C., J.J.C., D.L.L., J.B.M., J.J.P., H.T.M., T.L.B., J.L.A., D.G.R., A.G.K.); 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