{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T13:37:34Z","timestamp":1765546654238},"reference-count":0,"publisher":"Institute of Hematology, Catholic University","issue":"1","license":[{"start":{"date-parts":[[2020,6,28]],"date-time":"2020-06-28T00:00:00Z","timestamp":1593302400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mediterr J Hematol Infect Dis"],"abstract":"<jats:p>Introduction: The reduced rate of bone formation despite the availability of vitamin D has been reported in \u03b2-thalassemia.\u00a0 This suggests genetic factors together with environmental one can be implicated in this condition. Since vitamin D binding protein (VDBP) maintains bioavailability of vitamin D which binds to vitamin D receptor (VDR)-retinoid X receptor alpha (RXRA) heterodimer to exert its molecular actions, we speculated that vitamin D metabolic-axis expression signature and variants could be potential molecular candidates for bone turnover\/disease in thalassemia. To this end, this study aims to analyze VDR\/RXRA expression signature, and two VDBP variants in a pilot sample of Egyptian \u03b2-thalassemia children in correlation with bone mineral density (BMD).&#x0D;\nPatients and methods: Forty-four \u03b2-thalassemia children and 40 unrelated controls were enrolled. The serum bone chemistry profile was measured. Peripheral blood mononuclear cells (PBMN) VDR\/RXRA expression levels were quantified by Real-Time quantitative reverse transcription-polymerase chain reaction (qRT-PCR). VDBP rs7041 and rs4588 variants were identified by Real-Time allelic discrimination assay. All patients were subjected to lumbar-spine Dual-energy X-ray absorptiometry (DEXA).&#x0D;\nResults: VDR\/RXRA expressions were significantly higher in \u03b2-thalassemia children compared to controls (P = 0.001 and &lt;0.001, respectively) and showed higher values in \u03b2-thalassemia major relative to \u03b2-thalassemia intermedia. Expression levels of both genes were not associated with sex or BMD. However, VDBP rs4701 genotyping revealed lower BMD-L4 and a higher frequency of osteoporosis.&#x0D;\nConclusions: \u03b2-Thalassemia children had higher expression levels of PBMN VDR\/RXRA. VDBP rs4701 variant was associated with osteoporosis in our \u03b2-thalassemia patients on vitamin D supplementation. Further large-scale studies in other ethnic populations are warranted.<\/jats:p>","DOI":"10.4084\/mjhid.2020.037","type":"journal-article","created":{"date-parts":[[2020,8,9]],"date-time":"2020-08-09T07:04:32Z","timestamp":1596956672000},"page":"e2020037","source":"Crossref","is-referenced-by-count":6,"title":["Association of VDBP rs4701 variant, but not VDR\/RXR-\u03b1 over-expression with bone mineral density in pediatric \u03b2-Thalassemia patients"],"prefix":"10.4084","volume":"12","author":[{"given":"Shaimaa","family":"Sahmoud","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mostafa","family":"Ibrahim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eman","family":"Toraih","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noha","family":"Kamel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manal","family":"Fawzy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samar","family":"Elfiky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2554","published-online":{"date-parts":[[2020,6,28]]},"container-title":["Mediterranean Journal of Hematology and Infectious Diseases"],"original-title":[],"link":[{"URL":"https:\/\/www.mjhid.org\/index.php\/mjhid\/article\/download\/2020.037\/3786","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.mjhid.org\/index.php\/mjhid\/article\/download\/2020.037\/3796","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.mjhid.org\/index.php\/mjhid\/article\/download\/2020.037\/3786","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,8,9]],"date-time":"2020-08-09T07:04:32Z","timestamp":1596956672000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mjhid.org\/index.php\/mjhid\/article\/view\/2020.037"}},"subtitle":["Vitamin D metabolic axis and BMD in \u03b2-thalassemia"],"short-title":[],"issued":{"date-parts":[[2020,6,28]]},"references-count":0,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2020,1,1]]}},"URL":"https:\/\/doi.org\/10.4084\/mjhid.2020.037","relation":{},"ISSN":["2035-3006"],"issn-type":[{"value":"2035-3006","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,28]]}}}