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Sökning: onr:"swepub:oai:gup.ub.gu.se/161395" > Meta-Analysis of Ge...

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FältnamnIndikatorerMetadata
00005642naa a2200637 4500
001oai:gup.ub.gu.se/161395
003SwePub
008240528s2012 | |||||||||||000 ||eng|
0247 a https://gup.ub.gu.se/publication/1613952 URI
0247 a https://doi.org/10.1371/journal.pgen.10027182 DOI
040 a (SwePub)gu
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Medina-Gomez, Carolina4 aut
2451 0a Meta-Analysis of Genome-Wide Scans for Total Body BMD in Children and Adults Reveals Allelic Heterogeneity and Age-Specific Effects at the WNT16 Locus.
264 c 2012-07-05
264 1b Public Library of Science (PLoS),c 2012
520 a To identify genetic loci influencing bone accrual, we performed a genome-wide association scan for total-body bone mineral density (TB-BMD) variation in 2,660 children of different ethnicities. We discovered variants in 7q31.31 associated with BMD measurements, with the lowest P=4.1×10(-11) observed for rs917727 with minor allele frequency of 0.37. We sought replication for all SNPs located ±500 kb from rs917727 in 11,052 additional individuals from five independent studies including children and adults, together with de novo genotyping of rs3801387 (in perfect linkage disequilibrium (LD) with rs917727) in 1,014 mothers of children from the discovery cohort. The top signal mapping in the surroundings of WNT16 was replicated across studies with a meta-analysis P=2.6×10(-31) and an effect size explaining between 0.6%-1.8% of TB-BMD variance. Conditional analyses on this signal revealed a secondary signal for total body BMD (P=1.42×10(-10)) for rs4609139 and mapping to C7orf58. We also examined the genomic region for association with skull BMD to test if the associations were independent of skeletal loading. We identified two signals influencing skull BMD variation, including rs917727 (P=1.9×10(-16)) and rs7801723 (P=8.9×10(-28)), also mapping to C7orf58 (r(2)=0.50 with rs4609139). Wnt16 knockout (KO) mice with reduced total body BMD and gene expression profiles in human bone biopsies support a role of C7orf58 and WNT16 on the BMD phenotypes observed at the human population level. In summary, we detected two independent signals influencing total body and skull BMD variation in children and adults, thus demonstrating the presence of allelic heterogeneity at the WNT16 locus. One of the skull BMD signals mapping to C7orf58 is mostly driven by children, suggesting temporal determination on peak bone mass acquisition. Our life-course approach postulates that these genetic effects influencing peak bone mass accrual may impact the risk of osteoporosis later in life.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicin0 (SwePub)3022 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicine0 (SwePub)3022 hsv//eng
7001 a Kemp, John P4 aut
7001 a Estrada, Karol4 aut
7001 a Eriksson, Joelu Gothenburg University,Göteborgs universitet,Centre for Bone and Arthritis Research,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition4 aut0 (Swepub:gu)xerjoe
7001 a Liu, Jeff4 aut
7001 a Reppe, Sjur4 aut
7001 a Evans, David M4 aut
7001 a Heppe, Denise H M4 aut
7001 a Vandenput, Liesbeth,d 1974u Gothenburg University,Göteborgs universitet,Centre for Bone and Arthritis Research,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition4 aut0 (Swepub:gu)xvanli
7001 a Herrera, Lizbeth4 aut
7001 a Ring, Susan M4 aut
7001 a Kruithof, Claudia J4 aut
7001 a Timpson, Nicholas J4 aut
7001 a Zillikens, M Carola4 aut
7001 a Olstad, Ole K4 aut
7001 a Zheng, Hou-Feng4 aut
7001 a Richards, J Brent4 aut
7001 a St Pourcain, Beate4 aut
7001 a Hofman, Albert4 aut
7001 a Jaddoe, Vincent W V4 aut
7001 a Smith, George Davey4 aut
7001 a Lorentzon, Mattias,d 1970u Gothenburg University,Göteborgs universitet,Centre for Bone and Arthritis Research,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition4 aut0 (Swepub:gu)xlomat
7001 a Gautvik, Kaare M4 aut
7001 a Uitterlinden, André G4 aut
7001 a Brommage, Robert4 aut
7001 a Ohlsson, Claes,d 1965u Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Centre for Bone and Arthritis Research,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition4 aut0 (Swepub:gu)xohlcl
7001 a Tobias, Jonathan H4 aut
7001 a Rivadeneira, Fernando4 aut
7102 a Göteborgs universitetb Centre for Bone and Arthritis Research4 org
7730 t PLoS geneticsd : Public Library of Science (PLoS)g 8:7q 8:7x 1553-7404
8564 u https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1002718&type=printable
8564 8u https://gup.ub.gu.se/publication/161395
8564 8u https://doi.org/10.1371/journal.pgen.1002718

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