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http://purl.uniprot.org/citations/20424473http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/20424473http://www.w3.org/2000/01/rdf-schema#comment"

Background and methods

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 >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.

Results

Sixteen SNPs of 14 genes were significant according to allelic and/or genotypic studies (p < 0.05 by Fisher's 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 1.05-2.52. The second major haplotype with a frequency of 27% was also significant and acted as a protective haplotype (p = 0.022 by Fisher's exact test, with an OR of 0.55 and 95% CI of 0.33-0.90).

Conclusion

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."xsd:string
http://purl.uniprot.org/citations/20424473http://purl.org/dc/terms/identifier"doi:10.1159/000313481"xsd:string
http://purl.uniprot.org/citations/20424473http://purl.uniprot.org/core/author"Yokoyama K."xsd:string
http://purl.uniprot.org/citations/20424473http://purl.uniprot.org/core/author"Muramatsu M."xsd:string
http://purl.uniprot.org/citations/20424473http://purl.uniprot.org/core/author"Yoshida T."xsd:string
http://purl.uniprot.org/citations/20424473http://purl.uniprot.org/core/author"Niu T."xsd:string
http://purl.uniprot.org/citations/20424473http://purl.uniprot.org/core/author"Kono T."xsd:string
http://purl.uniprot.org/citations/20424473http://purl.uniprot.org/core/author"Hosoya T."xsd:string
http://purl.uniprot.org/citations/20424473http://purl.uniprot.org/core/author"Ohkido I."xsd:string
http://purl.uniprot.org/citations/20424473http://purl.uniprot.org/core/author"Urashima M."xsd:string
http://purl.uniprot.org/citations/20424473http://purl.uniprot.org/core/date"2010"xsd:gYear
http://purl.uniprot.org/citations/20424473http://purl.uniprot.org/core/name"Nephron Clin Pract"xsd:string
http://purl.uniprot.org/citations/20424473http://purl.uniprot.org/core/pages"c237-43"xsd:string
http://purl.uniprot.org/citations/20424473http://purl.uniprot.org/core/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."xsd:string
http://purl.uniprot.org/citations/20424473http://purl.uniprot.org/core/volume"115"xsd:string
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