a validation of the first genome-wide association study of calcaneus ultrasound parameters in the european male ageing study验证第一个全基因组关联研究跟骨超声参数在欧洲男性衰老的研究.pdfVIP
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a validation of the first genome-wide association study of calcaneus ultrasound parameters in the european male ageing study验证第一个全基因组关联研究跟骨超声参数在欧洲男性衰老的研究
Roshandel et al. BMC Medical Genetics 2011, 12:19
/1471-2350/12/19
RESEARCH ARTICLE Open Access
A validation of the first genome-wide association
study of calcaneus ultrasound parameters in the
European Male Ageing Study
1 1 1 2,3 3 3,4
Delnaz Roshandel , Wendy Thomson , Stephen R Pye , Steven Boonen , Herman Borghs , Dirk Vanderschueren ,
5 6 6,7 8 9 1 10
Ilpo T Huhtaniemi , Judith E Adams , Kate A Ward , Gyorgy Bartfai , Felipe Casanueva , Joseph D Finn , Gianni Forti ,
Aleksander Giwercman11, Thang S Han12, Krzysztof Kula13, Michael E Lean12, Neil Pendleton14, Margus Punab15,
Alan J Silman1, Frederick C Wu16, Kate L Holliday1*†, Terence W O’Neill1†, The EMAS Study Group
Abstract
Background: A number of single nucleotide polymorphisms (SNPs) have been associated with broadband
ultrasound attenuation (BUA) and speed of sound (SOS) as measured by quantitative ultrasound (QUS) at the
calcaneus in the Framingham 100K genome-wide association study (GWAS) but have not been validated in
independent studies. The aim of this analysis was to determine if these SNPs are associated with QUS
measurements assessed in a large independent population of European middle-aged and elderly men. The
association between these SNPs and bone mineral density (BMD) measured using dual-energy X-ray
absorptiometry (DXA) was also tested.
Methods: Men aged 40-79 years (N = 2960) were recruited from population registers in seven European centres
for participation in an observational study of male ageing, the European Male Ageing Study (EMAS). QUS at t
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