{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:45:05Z","timestamp":1789951505379,"version":"4.0.1"},"reference-count":29,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2011,3,21]]},"published-print":{"date-parts":[[2011,7]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Restless legs syndrome (RLS) is a sleep related movement disorder that occurs both in an idiopathic form and in symptomatic varieties. RLS is a frequent and distressing comorbidity in end stage renal disease (ESRD). For idiopathic RLS (iRLS), genetic risk factors have been identified, but their role in RLS in ESRD has not been investigated yet. Therefore, a case\u2013control association study of these variants in ESRD patients was performed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The study genotyped 10 iRLS associated variants at four loci encompassing the genes <jats:italic>MEIS1<\/jats:italic>, <jats:italic>BTBD9<\/jats:italic>, <jats:italic>MAP2K5<\/jats:italic>\/<jats:italic>SKOR1<\/jats:italic>, and <jats:italic>PTPRD<\/jats:italic>, in two independent case\u2013control samples from Germany and Greece using multiplex PCR and MALDI-TOF (matrix assisted laser desorption\/ionisation time-of-flight) mass spectrometry. Statistical analysis was performed as logistic regression with age and gender as covariates. For the combined analysis a Cochran\u2013Mantel\u2013Haenszel test was applied.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The study included 200 RLS-positive and 443 RLS-negative ESRD patients in the German sample, and 141 and 393 patients, respectively, in the Greek sample. In the German sample, variants in <jats:italic>MEIS1<\/jats:italic> and <jats:italic>BTBD9<\/jats:italic> were associated with RLS in ESRD (P<jats:sub>nom<\/jats:sub>\u22640.004, ORs 1.52 and 1.55), whereas, in the Greek sample, there was a trend for association to <jats:italic>MAP2K5<\/jats:italic>\/<jats:italic>SKOR1<\/jats:italic> and <jats:italic>BTBD9<\/jats:italic> (P<jats:sub>nom<\/jats:sub>\u22640.08, ORs 1.41 and 1.33). In the combined analysis including all samples, <jats:italic>BTBD9<\/jats:italic> was associated after correction for multiple testing (P<jats:sub>corrected<\/jats:sub>=0.0013, OR 1.47).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This is the first demonstration of a genetic influence on RLS in ESRD patients with <jats:italic>BTBD9<\/jats:italic> being significantly associated. The extent of the genetic predisposition could vary between different subgroups of RLS in ESRD.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2010.087858","type":"journal-article","created":{"date-parts":[[2011,5,14]],"date-time":"2011-05-14T20:34:55Z","timestamp":1305405295000},"page":"462-466","source":"Crossref","is-referenced-by-count":58,"title":["<i>MEIS1<\/i> and <i>BTBD9<\/i>: genetic association with restless leg syndrome in end stage renal 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