{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:36:37Z","timestamp":1745469397816,"version":"3.40.4"},"reference-count":20,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2010,4,28]],"date-time":"2010-04-28T00:00:00Z","timestamp":1272412800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,4,28]],"date-time":"2010-04-28T00:00:00Z","timestamp":1272412800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron Clin Pract"],"abstract":"<jats:p>&lt;i&gt;Background and Methods:&lt;\/i&gt; We conducted a large-scale case-control study that explored the association of 358 single nucleotide polymorphisms (SNPs) in 185 patients with end-stage renal disease. A variety of SNPs were recognized as significant in simple association studies. In addition, haplotype analysis identified the gene for the alpha 1C subunit of the voltage-dependent L-type calcium channel (CACNA1C) as having a significant association with secondary hyperparathyroidism (intact parathyroid hormone level &gt;200 pg\/ml) among 61 haplotypes. Since CACNA1C is a relatively large molecule, we examined 84 SNP markers from the CACNA1C region located on chromosome 12 by haplotype case-control association analysis. &lt;i&gt;Results:&lt;\/i&gt; Sixteen SNPs of 14 genes were significant according to allelic and\/or genotypic studies (p &lt; 0.05 by Fisher\u2019s exact test). Three different SNPs were from the CACNA1C gene. Next, we performed haplotype-based association testing with a focus on the CACNA1C region, revealing an odds ratio (OR) of 1.63 and 95% confidence interval (CI) of 1.05\u20132.52. The second major haplotype with a frequency of 27% was also significant and acted as a protective haplotype (p = 0.022 by Fisher\u2019s exact test, with an OR of 0.55 and 95% CI of 0.33\u20130.90). &lt;i&gt;Conclusion:&lt;\/i&gt; These results suggest that CACNA1C may be associated with secondary hyperparathyroidism. In addition, the haplotype-based approach may be useful to screen for key molecules associated with complex traits.<\/jats:p>","DOI":"10.1159\/000313481","type":"journal-article","created":{"date-parts":[[2010,4,28]],"date-time":"2010-04-28T06:58:23Z","timestamp":1272437903000},"page":"c237-c243","source":"Crossref","is-referenced-by-count":1,"title":["L-Type Voltage-Dependent Calcium Channel Alpha Subunit 1C Is a Novel Candidate Gene Associated with Secondary Hyperparathyroidism: An Application of Haplotype-Based Analysis for Multiple Linked Single Nucleotide Polymorphisms"],"prefix":"10.1159","volume":"115","author":[{"given":"Keitaro","family":"Yokoyama","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuyoshi","family":"Urashima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichiro","family":"Ohkido","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Kono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toyohiko","family":"Yoshida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaaki","family":"Muramatsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tianhua","family":"Niu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuo","family":"Hosoya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2010,4,28]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ki.5002287"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1523-1755.2004.00436.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1359%2Fjbmr.1997.12.6.958"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1523-1755.1998.00781.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1159%2F000046092"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093%2Fndt%2F13.3.810"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1136%2Fbmj.4.5893.643"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1086%2F338446"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038%2Fnm1196-1162b"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.90.13.6228"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.1716787"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016%2FS0006-291X%2802%2900894-X"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016%2FS0006-291X%2803%2900097-4"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038%2F366575a0"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1600-0773.1996.tb00196.x"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2265.1995.tb02592.x"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1210%2Fen.2002-220821"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1113%2Fexpphysiol.2009.046813"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002%2F1097-4644%2820001215%2979%3A4%3C648%3A%3AAID-JCB130%3E3.0.CO%3B2-Q"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00223-001-1010-5"}],"container-title":["Nephron Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/313481","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/313481","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:12:01Z","timestamp":1745435521000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000313481"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,4,28]]},"references-count":20,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2010,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000313481","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.5455012","asserted-by":"subject"}]},"ISSN":["1660-2110"],"issn-type":[{"type":"electronic","value":"1660-2110"}],"subject":[],"published":{"date-parts":[[2010,4,28]]}}}