{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T18:26:37Z","timestamp":1777487197538,"version":"3.51.4"},"reference-count":29,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2006,11,13]],"date-time":"2006-11-13T00:00:00Z","timestamp":1163376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2006,11,13]],"date-time":"2006-11-13T00:00:00Z","timestamp":1163376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2007]]},"abstract":"<i>Background\/Aims:<\/i> Hypocalcemic vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, secondary hyperparathyroidism, elevated levels of 1,25-dihydroxyvitamin D<sub>3<\/sub> [1,25(OH)<sub>2<\/sub>D<sub>3<\/sub>], and occasionally, alopecia. In most cases, the disease is associated with mutations in the gene of the vitamin D receptor (VDR), the mediator of 1,25(OH)<sub>2<\/sub>D<sub>3<\/sub> action. The apparently healthy HVDRR heterozygotes express both normal and mutant VDR alleles, and they present higher levels of 1,25(OH)<sub>2<\/sub>D<sub>3<\/sub> than their respective controls. Because VDR function, except for the disease-causative mutations, might be influenced by the presence of certain polymorphisms, we investigated the distribution of four common VDR polymorphisms \u2013<i> Bsm<\/i>I, <i>Apa<\/i>I, <i>Taq<\/i>I and <i>Fok<\/i>I \u2013 in HVDRR carriers compared with their respective controls. <i>Methods:<\/i> Sixty-seven relatives of 2 HVDRR patients, all members of an extended Greek kindred, were included in the study. VDR allelic polymorphisms were assessed by restriction fragment length polymorphisms after specific polymerase chain reaction amplification. <i>Results:<\/i> The distribution of genotypic and allelic frequencies differed between HVDRR carriers and their respective controls regarding <i>Bsm<\/i>I and <i>Taq<\/i>I polymorphisms. The bb genotype and the T allele (presence of <i>Bsm<\/i>I and absence of <i>Taq<\/i>I polymorphisms) were less frequent in the HVDRR carrier group than in the control group in a statistically significant manner (p = 0.029 and p = 0.025, respectively). <i>Conclusions:<\/i> Our findings showed that the apparently healthy HVDRR carriers present a different distribution of <i>Bsm<\/i>I and <i>Taq<\/i>I VDR polymorphisms than their controls, suggesting that further investigation of the HVDRR carrier population may elucidate the implication of VDR alleles in VDR function and the vitamin D endocrine system.<\/jats:p>","DOI":"10.1159\/000097014","type":"journal-article","created":{"date-parts":[[2006,11,13]],"date-time":"2006-11-13T12:58:26Z","timestamp":1163422706000},"page":"179-183","source":"Crossref","is-referenced-by-count":5,"title":["Vitamin D Receptor Polymorphisms in Hypocalcemic Vitamin D-Resistant Rickets Carriers"],"prefix":"10.1159","volume":"67","author":[{"given":"Polyxeni","family":"Nicolaidou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Papadopoulou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.G.","family":"Matsinos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen","family":"Georgouli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Fretzayas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anastasios","family":"Papadimitriou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kostantinos","family":"Priftis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konstantinos","family":"Douros","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George P.","family":"Chrousos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2006,11,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJM197805042981804"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1001%2Farchderm.121.5.646"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2265.1996.00774.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210%2Fer.20.2.156"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1359%2Fjbmr.2004.19.6.1018"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210%2Fen.2004-0080"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016%2FS1096-7192%2802%2900173-7"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210%2Fme.2002-0152"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1359%2Fjbmr.2002.17.9.1728"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1006%2Fmgme.2001.3181"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.82.9.3156"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1210%2Fjcem-59-3-383"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210%2Fjcem-68-2-263"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI114944"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1159%2F000091043"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1007%2FBF01800596"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.2588000"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002%2Fjbmr.5650071212"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016%2FS0303-7207%2802%2900274-5"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038%2F367284a0"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00198-004-1601-x"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.mam.2005.01.002"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1002%2Fjbmr.5650100622"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1002%2Fjbmr.5650111204"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1002%2Fart.1780400812"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1007%2Fs001980050245"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1359%2Fjbmr.1997.12.7.1049"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1210%2Fendo-117-5-2114"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI114931"}],"container-title":["Hormone 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