{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T18:23:43Z","timestamp":1785435823496,"version":"3.56.0"},"reference-count":61,"publisher":"Bioscientifica","issue":"4","license":[{"start":{"date-parts":[[2015,6,25]],"date-time":"2015-06-25T00:00:00Z","timestamp":1435190400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/deed.en_GB"}],"content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:p>\n                    Mutations in fumarate hydratase (\n                    <jats:italic>FH<\/jats:italic>\n                    ) on chromosome 1q43 cause a rare cancer syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC), but are rare in nonsyndromic and common uterine leiomyoma (UL) or fibroids. Studies suggested that variants in\n                    <jats:italic>FH<\/jats:italic>\n                    or in a linked gene may also predispose to UL. We re-sequenced 2.3\u200aMb of DNA spanning\n                    <jats:italic>FH<\/jats:italic>\n                    in 96 UL cases and controls from the multiethnic NIEHS-uterine fibroid study, and in 18 HLRCC-associated UL probands from European families then selected 221 informative SNPs for follow-up genotyping. We report promising susceptibility associations with UL peaking at rs78220092 (\n                    <jats:italic>P<\/jats:italic>\n                    =7.0\u00d710\n                    <jats:sup>\u22125<\/jats:sup>\n                    ) in the\n                    <jats:italic>RGS7-FH<\/jats:italic>\n                    interval in African Americans. In race-combined analyses and in meta-analyses (\n                    <jats:italic>n<\/jats:italic>\n                    =916), we identified promising associations with risk peaking upstream of a non-protein coding RNA (lncRNA) locus located in the\n                    <jats:italic>RGS7-FH<\/jats:italic>\n                    interval closer to\n                    <jats:italic>RGS7<\/jats:italic>\n                    , and associations with tumor size peaking in the distal phospholipase D family, member 5 (\n                    <jats:italic>PLD5<\/jats:italic>\n                    ) gene at rs2654879 (\n                    <jats:italic>P<\/jats:italic>\n                    =1.7\u00d710\n                    <jats:sup>\u22124<\/jats:sup>\n                    ). We corroborated previously reported\n                    <jats:italic>FH<\/jats:italic>\n                    mutations in nine out of the 18 HLRCC-associated UL cases and identified two missense mutations in\n                    <jats:italic>FH<\/jats:italic>\n                    in only two nonsyndromic UL cases and one control. Our fine association mapping and integration of existing gene profiling data showing upregulated expression of the lncRNA and downregulation of\n                    <jats:italic>PLD5<\/jats:italic>\n                    in fibroids, as compared to matched myometrium, suggest a potential role of this genomic region in UL pathogenesis. While the identified variations at 1q43 represent a potential risk locus for UL, future replication analyses are required to substantiate our observation.\n                  <\/jats:p>","DOI":"10.1530\/erc-15-0208","type":"journal-article","created":{"date-parts":[[2015,6,26]],"date-time":"2015-06-26T00:06:45Z","timestamp":1435277205000},"page":"633-643","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":6,"title":["Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval"],"prefix":"10.1530","volume":"22","author":[{"given":"Brahim","family":"Aissani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arjen R","family":"Mensenkamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fred H","family":"Menko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard W","family":"Wiener","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"2015080519201724000_22.4.633.1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.130"},{"key":"2015080519201724000_22.4.633.2","doi-asserted-by":"publisher","DOI":"10.1038\/oby.2006.185"},{"key":"2015080519201724000_22.4.633.3","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0058399"},{"key":"2015080519201724000_22.4.633.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2014.10.025"},{"key":"2015080519201724000_22.4.633.5","doi-asserted-by":"publisher","DOI":"10.1086\/320124"},{"key":"2015080519201724000_22.4.633.6","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0102612"},{"key":"2015080519201724000_22.4.633.7","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-1016336"},{"key":"2015080519201724000_22.4.633.8","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-10-1949"},{"key":"2015080519201724000_22.4.633.9","doi-asserted-by":"publisher","DOI":"10.1067\/mob.2003.99"},{"key":"2015080519201724000_22.4.633.10","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.660502"},{"key":"2015080519201724000_22.4.633.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2005.04.017"},{"key":"2015080519201724000_22.4.633.12","doi-asserted-by":"crossref","unstructured":"Bayley JP Launonen V Tomlinson IP 2008 The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. 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