Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

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Fältnamn	Indikatorer	Metadata
000		10263naa a2202077 4500
001		oai:DiVA.org:uu-228008
003		SwePub
008		140702s2014 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:lup.lub.lu.se:fb63a1c4-6c5f-4f66-b206-467c0a908ace
009		oai:gup.ub.gu.se/199781
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2280082 URI
024	7	a https://doi.org/10.1093/hmg/ddt6752 DOI
024	7	a https://lup.lub.lu.se/record/45524862 URI
024	7	a https://gup.ub.gu.se/publication/1997812 URI
040		a (SwePub)uud (SwePub)lud (SwePub)gu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Moayyeri, Alireza4 aut
245	1 0	a Genetic determinants of heel bone properties :b genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium
264		c 2014-01-14
264	1	b Oxford University Press (OUP),c 2014
338		a print2 rdacarrier
520		a Quantitative ultrasound of the heel captures heel bone properties that independently predict fracture risk and, with bone mineral density (BMD) assessed by X-ray (DXA), may be convenient alternatives for evaluating osteoporosis and fracture risk. We performed a meta-analysis of genome-wide association (GWA) studies to assess the genetic determinants of heel broadband ultrasound attenuation (BUA; n = 14 260), velocity of sound (VOS; n = 15 514) and BMD (n = 4566) in 13 discovery cohorts. Independent replication involved seven cohorts with GWA data (in silico n = 11 452) and new genotyping in 15 cohorts (de novo n = 24 902). In combined random effects, meta-analysis of the discovery and replication cohorts, nine single nucleotide polymorphisms (SNPs) had genome-wide significant (P < 5 x 10(-8)) associations with heel bone properties. Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 x 10(-14)). In meta-analyses involving 25 cohorts with up to 14 985 fracture cases, six of 10 SNPs associated with heel bone properties at P < 5 x 10(-6) also had the expected direction of association with any fracture (P < 0.05), including three SNPs with P < 0.005: 6q22.33 (rs7741021), 7q31.31 (rs2908007) and 10q21.1 (rs7902708). In conclusion, this GWA study reveals the effect of several genes common to central DXA-derived BMD and heel ultrasound/DXA measures and points to a new genetic locus with potential implications for better understanding of osteoporosis pathophysiology.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650	7	a NATURVETENSKAPx Biologix Biokemi och molekylärbiologi0 (SwePub)106022 hsv//swe
650	7	a NATURAL SCIENCESx Biological Sciencesx Biochemistry and Molecular Biology0 (SwePub)106022 hsv//eng
653		a X-RAY ABSORPTIOMETRY
653		a QUANTITATIVE ULTRASOUND
653		a MINERAL DENSITY
653		a OSTEOPOROSIS
653		a FRACTURE
653		a RISK
653		a DENSITOMETRY
653		a PHENOTYPES
653		a CALCANEUS
653		a WOMEN
700	1	a Hsu, Yi-Hsiang4 aut
700	1	a Karasik, David4 aut
700	1	a Estrada, Karol4 aut
700	1	a Xiao, Su-Mei4 aut
700	1	a Nielson, Carrie4 aut
700	1	a Srikanth, Priya4 aut
700	1	a Giroux, Sylvie4 aut
700	1	a Wilson, Scott G.4 aut
700	1	a Zheng, Hou-Feng4 aut
700	1	a Smith, Albert V.4 aut
700	1	a Pye, Stephen R.4 aut
700	1	a Leo, Paul J.4 aut
700	1	a Teumer, Alexander4 aut
700	1	a Hwang, Joo-Yeon4 aut
700	1	a Ohlsson, Claes,d 1965u Gothenburg University,Göteborgs universitet,Centre for Bone and Arthritis Research,Institutionen för medicin,Institute of Medicine4 aut0 (Swepub:gu)xohlcl
700	1	a McGuigan, Fionau Lund University,Lunds universitet,Ortopedi - klinisk och molekylär osteoporosforskning,Forskargrupper vid Lunds universitet,Orthopedics - Clinical and Molecular Osteoporosis Research,Lund University Research Groups4 aut0 (Swepub:lu)med-fam
700	1	a Minster, Ryan L.4 aut
700	1	a Hayward, Caroline4 aut
700	1	a Olmos, Jose M.4 aut
700	1	a Lyytikaeinen, Leo-Pekka4 aut
700	1	a Lewis, Joshua R.4 aut
700	1	a Swart, Karin M. A.4 aut
700	1	a Masi, Laura4 aut
700	1	a Oldmeadow, Chris4 aut
700	1	a Holliday, Elizabeth G.4 aut
700	1	a Cheng, Sulin4 aut
700	1	a Mellström, Dan,d 1945u Gothenburg University,Göteborgs universitet,Centre for Bone and Arthritis Research,Institutionen för medicin,Institute of Medicine4 aut0 (Swepub:gu)xmelda
700	1	a Harvey, Nicholas C.4 aut
700	1	a Kruk, Marcin4 aut
700	1	a Fabiola Del Greco, M.4 aut
700	1	a Igl, Wilmar4 aut
700	1	a Trummer, Olivia4 aut
700	1	a Grigoriou, Efi4 aut
700	1	a Luben, Robert4 aut
700	1	a Liu, Ching-Ti4 aut
700	1	a Zhou, Yanhua4 aut
700	1	a Oei, Ling4 aut
700	1	a Medina-Gomez, Carolina4 aut
700	1	a Zmuda, Joseph4 aut
700	1	a Tranah, Greg4 aut
700	1	a Brown, Suzanne J.4 aut
700	1	a Williams, Frances M.4 aut
700	1	a Soranzo, Nicole4 aut
700	1	a Jakobsdottir, Johanna4 aut
700	1	a Siggeirsdottir, Kristin4 aut
700	1	a Holliday, Kate L.4 aut
700	1	a Hannemann, Anke4 aut
700	1	a Go, Min Jin4 aut
700	1	a Garcia, Melissa4 aut
700	1	a Polasek, Ozren4 aut
700	1	a Laaksonen, Marika4 aut
700	1	a Zhu, Kun4 aut
700	1	a Enneman, Anke W.4 aut
700	1	a McEvoy, Mark4 aut
700	1	a Peel, Roseanne4 aut
700	1	a Sham, Pak Chung4 aut
700	1	a Jaworski, Maciej4 aut
700	1	a Johansson, Asa4 aut
700	1	a Hicks, Andrew A.4 aut
700	1	a Pludowski, Pawel4 aut
700	1	a Scott, Rodney4 aut
700	1	a Dhonukshe-Rutten, Rosalie A. M.4 aut
700	1	a van der Velde, Nathalie4 aut
700	1	a Kaehoenen, Mika4 aut
700	1	a Viikari, Jorma S.4 aut
700	1	a Sievaenen, Harri4 aut
700	1	a Raitakari, Olli T.4 aut
700	1	a Gonzalez-Macias, Jesus4 aut
700	1	a Hernandez, Jose L.4 aut
700	1	a Mellstroem, Dan4 aut
700	1	a Ljunggren, Östenu Uppsala universitet,Endokrinologi och mineralmetabolism4 aut0 (Swepub:uu)osteljun
700	1	a Cho, Yoon Shin4 aut
700	1	a Voelker, Uwe4 aut
700	1	a Nauck, Matthias4 aut
700	1	a Homuth, Georg4 aut
700	1	a Voelzke, Henry4 aut
700	1	a Haring, Robin4 aut
700	1	a Brown, Matthew A.4 aut
700	1	a McCloskey, Eugene4 aut
700	1	a Nicholson, Geoffrey C.4 aut
700	1	a Eastell, Richard4 aut
700	1	a Eisman, John A.4 aut
700	1	a Jones, Graeme4 aut
700	1	a Reid, Ian R.4 aut
700	1	a Dennison, Elaine M.4 aut
700	1	a Wark, John4 aut
700	1	a Boonen, Steven4 aut
700	1	a Vanderschueren, Dirk4 aut
700	1	a Wu, Frederick C. W.4 aut
700	1	a Aspelund, Thor4 aut
700	1	a Richards, J. Brent4 aut
700	1	a Bauer, Doug4 aut
700	1	a Hofman, Albert4 aut
700	1	a Khaw, Kay-Tee4 aut
700	1	a Dedoussis, George4 aut
700	1	a Obermayer-Pietsch, Barbara4 aut
700	1	a Gyllensten, Ulf4 aut
700	1	a Pramstaller, Peter P.4 aut
700	1	a Lorenc, Roman S.4 aut
700	1	a Cooper, Cyrus4 aut
700	1	a Kung, Annie Wai Chee4 aut
700	1	a Lips, Paul4 aut
700	1	a Alen, Markku4 aut
700	1	a Attia, John4 aut
700	1	a Luisa Brandi, Maria4 aut
700	1	a de Groot, Lisette C. P. G. M.4 aut
700	1	a Lehtimaeki, Terho4 aut
700	1	a Riancho, Jose A.4 aut
700	1	a Campbell, Harry4 aut
700	1	a Liu, Yongmei4 aut
700	1	a Harris, Tamara B.4 aut
700	1	a Åkesson, Kristinau Lund University,Lunds universitet,Ortopedi - klinisk och molekylär osteoporosforskning,Forskargrupper vid Lunds universitet,Orthopedics - Clinical and Molecular Osteoporosis Research,Lund University Research Groups4 aut0 (Swepub:lu)orto-kak
700	1	a Karlsson, Magnusu Lund University,Lunds universitet,Ortopedi - klinisk och molekylär osteoporosforskning,Forskargrupper vid Lunds universitet,Orthopedics - Clinical and Molecular Osteoporosis Research,Lund University Research Groups4 aut0 (Swepub:lu)orto-mka
700	1	a Lee, Jong-Young4 aut
700	1	a Wallaschofski, Henri4 aut
700	1	a Duncan, Emma L.4 aut
700	1	a O'Neill, Terence W.4 aut
700	1	a Gudnason, Vilmundur4 aut
700	1	a Spector, Timothy D.4 aut
700	1	a Rousseau, Francois4 aut
700	1	a Orwoll, Eric4 aut
700	1	a Cummings, Steven R.4 aut
700	1	a Wareham, Nick J.4 aut
700	1	a Rivadeneira, Fernando4 aut
700	1	a Uitterlinden, Andre G.4 aut
700	1	a Prince, Richard L.4 aut
700	1	a Kiel, Douglas P.4 aut
700	1	a Reeve, Jonathan4 aut
700	1	a Kaptoge, Stephen K.4 aut
710	2	a Göteborgs universitetb Centre for Bone and Arthritis Research4 org
773	0	t Human Molecular Geneticsd : Oxford University Press (OUP)g 23:11, s. 3054-3068q 23:11<3054-3068x 0964-6906x 1460-2083
856	4	u https://academic.oup.com/hmg/article-pdf/23/11/3054/13917531/ddt675.pdf
856	4	u http://dx.doi.org/10.1093/hmg/ddt675x freey FULLTEXT
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-228008
856	4 8	u https://doi.org/10.1093/hmg/ddt675
856	4 8	u https://lup.lub.lu.se/record/4552486
856	4 8	u https://gup.ub.gu.se/publication/199781

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By the author/editor: Moayyeri, Alirez ...; Hsu, Yi-Hsiang; Karasik, David; Estrada, Karol; Xiao, Su-Mei; Nielson, Carrie; show more...; Srikanth, Priya; Giroux, Sylvie; Wilson, Scott G.; Zheng, Hou-Feng; Smith, Albert V.; Pye, Stephen R.; Leo, Paul J.; Teumer, Alexande ...; Hwang, Joo-Yeon; Ohlsson, Claes, ...; McGuigan, Fiona; Minster, Ryan L.; Hayward, Carolin ...; Olmos, Jose M.; Lyytikaeinen, Le ...; Lewis, Joshua R.; Swart, Karin M. ...; Masi, Laura; Oldmeadow, Chris; Holliday, Elizab ...; Cheng, Sulin; Mellström, Dan, ...; Harvey, Nicholas ...; Kruk, Marcin; Fabiola Del Grec ...; Igl, Wilmar; Trummer, Olivia; Grigoriou, Efi; Luben, Robert; Liu, Ching-Ti; Zhou, Yanhua; Oei, Ling; Medina-Gomez, Ca ...; Zmuda, Joseph; Tranah, Greg; Brown, Suzanne J ...; Williams, France ...; Soranzo, Nicole; Jakobsdottir, Jo ...; Siggeirsdottir, ...; Holliday, Kate L ...; Hannemann, Anke; Go, Min Jin; Garcia, Melissa; Polasek, Ozren; Laaksonen, Marik ...; Zhu, Kun; Enneman, Anke W.; McEvoy, Mark; Peel, Roseanne; Sham, Pak Chung; Jaworski, Maciej; Johansson, Asa; Hicks, Andrew A.; Pludowski, Pawel; Scott, Rodney; Dhonukshe-Rutten ...; van der Velde, N ...; Kaehoenen, Mika; Viikari, Jorma S ...; Sievaenen, Harri; Raitakari, Olli ...; Gonzalez-Macias, ...; Hernandez, Jose ...; Mellstroem, Dan; Ljunggren, Östen; Cho, Yoon Shin; Voelker, Uwe; Nauck, Matthias; Homuth, Georg; Voelzke, Henry; Haring, Robin; Brown, Matthew A ...; McCloskey, Eugen ...; Nicholson, Geoff ...; Eastell, Richard; Eisman, John A.; Jones, Graeme; Reid, Ian R.; Dennison, Elaine ...; Wark, John; Boonen, Steven; Vanderschueren, ...; Wu, Frederick C. ...; Aspelund, Thor; Richards, J. Bre ...; Bauer, Doug; Hofman, Albert; Khaw, Kay-Tee; Dedoussis, Georg ...; Obermayer-Pietsc ...; Gyllensten, Ulf; Pramstaller, Pet ...; Lorenc, Roman S.; Cooper, Cyrus; Kung, Annie Wai ...; Lips, Paul; Alen, Markku; Attia, John; Luisa Brandi, Ma ...; de Groot, Lisett ...; Lehtimaeki, Terh ...; Riancho, Jose A.; Campbell, Harry; Liu, Yongmei; Harris, Tamara B ...; Åkesson, Kristin ...; Karlsson, Magnus; Lee, Jong-Young; Wallaschofski, H ...; Duncan, Emma L.; O'Neill, Terence ...; Gudnason, Vilmun ...; Spector, Timothy ...; Rousseau, Franco ...; Orwoll, Eric; Cummings, Steven ...; Wareham, Nick J.; Rivadeneira, Fer ...; Uitterlinden, An ...; Prince, Richard ...; Kiel, Douglas P.; Reeve, Jonathan; Kaptoge, Stephen ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

NATURAL SCIENCES: NATURAL SCIENCES; and Biological Scien ...; and Biochemistry and ...

Articles in the publication: Human Molecular ...

By the university: Uppsala University; Lund University; University of Gothenburg

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