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Conference Paper: Identification of the CACNA2D2 gene on chromosome 3p21 as a novel susceptibility gene for osteoporosis

TitleIdentification of the CACNA2D2 gene on chromosome 3p21 as a novel susceptibility gene for osteoporosis
Authors
Issue Date2007
Citation
The 29th Annual Meeting of the American Society for Bone and Mineral Research (ASBMR), Honolulu, HI, 16-19 September 2007. In Journal of Bone and Mineral Research, 2007, v. 22 n. S1, p. S185 How to Cite?
AbstractEvidence of linkage of chromosome 3p to bone mineral density (BMD) has been previously reported in individual as well as meta-analysis of genome wide linkage scans.To identify the quantitative trait loci gene underlying BMD variation at chromosome 3p, we performed a region-wide association study with 200 single-nucleotide polymorphisms (SNPs) across 6Mb of chromosome 3p21 in I, 243 case-control Chinese subjects.The cases were subjects with low BMD (Z-scores 5 -1.28, equivalent to the lowest 10 percent of the population) at either the L1-4 lumbar spine or femoral neck. Control subjects had high BMD (Z-score t +1.0) at the corresponding sites. Two hundred tag SNPs were selected and genotyped using the high-throughput Sequenom genotyping platform. One hundred thirty-five SNPs met quality control criteria (genotyping call rate 20.9. minor allele frequency 2 0.01, duplicate error rate <0.02 and Hardy-Weinberg equilibrium p values 20.01) and were analyzed for their association with BMD measured using dual- energy x-ray absorptiometry. Binary logistic regression analyses were performed to test for associations between each SNP genotype and BMD. Haplotype association analyses were performed by WHAP. Five SNPs (n11918619, n1471217, n2336664, rs7626551, and ~2257216) were associated with spine BMD and two SNPs (~2236953, rs2624839) with femoral neck BMD (p
Persistent Identifierhttp://hdl.handle.net/10722/102285
ISSN

 

DC FieldValueLanguage
dc.contributor.authorHuang, Qen_HK
dc.contributor.authorCheung, CLen_HK
dc.contributor.authorFong, Pen_HK
dc.contributor.authorNg, Men_HK
dc.contributor.authorMak, Wen_HK
dc.contributor.authorChan, VNY-
dc.contributor.authorSham, PC-
dc.contributor.authorKung, AWC-
dc.date.accessioned2010-09-25T20:24:29Z-
dc.date.available2010-09-25T20:24:29Z-
dc.date.issued2007en_HK
dc.identifier.citationThe 29th Annual Meeting of the American Society for Bone and Mineral Research (ASBMR), Honolulu, HI, 16-19 September 2007. In Journal of Bone and Mineral Research, 2007, v. 22 n. S1, p. S185en_HK
dc.identifier.issn1523-4681-
dc.identifier.urihttp://hdl.handle.net/10722/102285-
dc.description.abstractEvidence of linkage of chromosome 3p to bone mineral density (BMD) has been previously reported in individual as well as meta-analysis of genome wide linkage scans.To identify the quantitative trait loci gene underlying BMD variation at chromosome 3p, we performed a region-wide association study with 200 single-nucleotide polymorphisms (SNPs) across 6Mb of chromosome 3p21 in I, 243 case-control Chinese subjects.The cases were subjects with low BMD (Z-scores 5 -1.28, equivalent to the lowest 10 percent of the population) at either the L1-4 lumbar spine or femoral neck. Control subjects had high BMD (Z-score t +1.0) at the corresponding sites. Two hundred tag SNPs were selected and genotyped using the high-throughput Sequenom genotyping platform. One hundred thirty-five SNPs met quality control criteria (genotyping call rate 20.9. minor allele frequency 2 0.01, duplicate error rate <0.02 and Hardy-Weinberg equilibrium p values 20.01) and were analyzed for their association with BMD measured using dual- energy x-ray absorptiometry. Binary logistic regression analyses were performed to test for associations between each SNP genotype and BMD. Haplotype association analyses were performed by WHAP. Five SNPs (n11918619, n1471217, n2336664, rs7626551, and ~2257216) were associated with spine BMD and two SNPs (~2236953, rs2624839) with femoral neck BMD (p<O.OI) in single marker associations. The region that contained 6 SNPs, located within the CACNA2D2 gene, showed the strongest association with femoral neck BMD in the haplotype analyses (permutation p<0.002). In addition, we consistently detected significant associations for the haplotype CCGATGCCAC of the CACNA2D2 gene with BMD at the spine, trochanter and total hip region. Our results suggest that CACNAZD2, which encodes a voltage-dependent calcium channel subunit, is a novel susceptibility gene for BMD variation in Chinese and is likely to be involved in the pathogenesis of osteoporosis. Replication study is currently being conducted in Japanese population.-
dc.languageengen_HK
dc.relation.ispartofJournal of Bone and Mineral Researchen_HK
dc.titleIdentification of the CACNA2D2 gene on chromosome 3p21 as a novel susceptibility gene for osteoporosisen_HK
dc.typeConference_Paperen_HK
dc.identifier.emailHuang, Q: qyhuang@hotmail.comen_HK
dc.identifier.emailChan, VNY: vnychana@hkucc.hku.hken_HK
dc.identifier.emailSham, PC: pcsham@HKUCC.hku.hken_HK
dc.identifier.emailKung, AWC: awckung@hku.hken_HK
dc.identifier.authorityHuang, Q=rp00521en_HK
dc.identifier.authorityChan, VNY=rp00320en_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.identifier.authorityKung, AWC=rp00368en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/jbmr.5650221405-
dc.identifier.hkuros141389en_HK
dc.identifier.volume22en_HK
dc.identifier.issuesupplen_HK
dc.identifier.spage282en_HK

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