RGD Reference Report - Genome-wide haplotype association mapping in mice identifies a genetic variant in CER1 associated with BMD and fracture in southern Chinese women. - Rat Genome Database

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Genome-wide haplotype association mapping in mice identifies a genetic variant in CER1 associated with BMD and fracture in southern Chinese women.

Authors: Tang, Paul L F  Cheung, Ching-Lung  Sham, Pak C  McClurg, Philip  Lee, Bob  Chan, Shut-Yan  Smith, David K  Tanner, Julian A  Su, Andrew I  Cheah, Kathryn S E  Kung, Annie W C  Song, You-Qiang 
Citation: Tang PL, etal., J Bone Miner Res. 2009 Jun;24(6):1013-21. doi: 10.1359/jbmr.081258.
RGD ID: 35673321
Pubmed: PMID:19113921   (View Abstract at PubMed)
DOI: DOI:10.1359/jbmr.081258   (Journal Full-text)

BMD is a heritable trait and risk indicator for osteoporosis. In this study, we used a genome-wide haplotype association mapping (HAM) approach to identify a haplotype block within Cer1 that partitions inbred mice strains into high and low BMD groups. A cohort of 1083 high and low BMD human subjects were studied, and a nonsynonymous SNP (rs3747532) in human CER1 was identified to be associated with increased risk of both low BMD in premenopausal women (OR: 2.2; 95% CI: 1.0-4.6; p < 0.05) and increased risk of vertebral fractures (OR: 1.82, p = 0.025) in the postmenopausal cohort. We also showed that Cer1 is expressed in mouse bone and growth plate by RT-PCR, immunohistochemistry, and in situ hybridization, consistent with polymorphisms potentially influencing BMD. Our successful identification of an association with CER1 in humans together with our mouse study suggests that CER1 may play a role in the development of bone or its metabolism. Our study highlights the use of publicly available databases for rapidly surveying the genome for quantitative trait loci.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CER1HumanSpinal Fractures susceptibilityIAGP DNA:SNPs: :rs3747532 and rs1494360(human) RGD 
Cer1MouseSpinal Fractures susceptibilityISOCER1 (Homo sapiens)DNA:SNPs: :rs3747532 and rs1494360(human) RGD 
Cer1RatSpinal Fractures susceptibilityISOCER1 (Homo sapiens)DNA:SNPs: :rs3747532 and rs1494360(human) RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CER1HumanReduced bone mineral density susceptibilityIAGP DNA:SNPs: :rs3747532 and rs1494360(human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Cer1  (cerberus 1, DAN family BMP antagonist)

Genes (Mus musculus)
Cer1  (cerberus 1, DAN family BMP antagonist)

Genes (Homo sapiens)
CER1  (cerberus 1, DAN family BMP antagonist)

Objects referenced in this article
Gene ACER1 alkaline ceramidase 1 Homo sapiens

Additional Information