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

PLoS Genetics

Volumn 8, Issue 7, 2012, Pages

  Medina Gomez, Carolina ^a,b   Kemp, John P ^c   Estrada, Karol ^a,b   Eriksson, Joel ^d   Liu, Jeff ^e   Reppe, Sjur ^f   Evans, David M ^c   Heppe, Denise H M ^a   Vandenput, Liesbeth ^d   Herrera, Lizbeth ^a   Ring, Susan M ^c   Kruithof, Claudia J ^a   Timpson, Nicholas J ^c   Zillikens, M Carola ^a,b   Olstad, Ole K ^f   Zheng, Hou Feng ^g,h   Richards, J Brent ^g,h,i   St Pourcain, Beate ^c   Hofman, Albert ^a,b   Jaddoe, Vincent W V ^a   Smith, George Davey ^c   Lorentzon, Mattias ^d   Gautvik, Kaare M ^f,j   Uitterlinden, André G ^a,b   Brommage, Robert ^e   Ohlsson, Claes ^d   Tobias, Jonathan H ^c   Rivadeneira, Fernando ^a,b   more..

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b Netherlands Genomics Initiative   (Netherlands)

^c UNIVERSITY OF BRISTOL   (United Kingdom)

^d UNIVERSITY OF GOTHENBURG   (Sweden)

^e LEXICON PHARMACEUTICALS INC   (United States)

^f ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^g MCGILL UNIVERSITY   (Canada)

^h MCGILL UNIVERSITY   (Canada)

ⁱ KING'S COLLEGE LONDON   (United Kingdom)

^j Oslo Deacon Hospital   (Norway)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGE; ANIMAL CELL; ARTICLE; BONE BIOPSY; BONE DENSITY; C7ORF58 GENE; CHILD; CONTROLLED STUDY; ETHNIC DIFFERENCE; FAM3C GENE; FEMALE; GENE; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENE LOCUS; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GENOTYPING TECHNIQUE; HUMAN; HUMAN TISSUE; MALE; MOLECULAR DYNAMICS; MOUSE; NONHUMAN; PRESCHOOL CHILD; PROMOTER REGION; SEX DIFFERENCE; SIGNAL DETECTION; SINGLE NUCLEOTIDE POLYMORPHISM; WNT16 GENE;

ADULT; AGE FACTORS; ALLELES; ANIMALS; BONE DENSITY; CHILD; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENETIC HETEROGENEITY; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MICE; OSTEOPOROSIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SKULL; WNT PROTEINS;

MUS;

EID: 84863897868     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002718     Document Type: Article

References (32)

1. Siris ES, Miller PD, Barrett-Connor E, Faulkner KG, Wehren LE, et al. (2001) Identification and fracture outcomes of undiagnosed low bone mineral density in postmenopausal women: results from the National Osteoporosis Risk Assessment. Jama 286: 2815-2822.
2. Lewiecki EM, Gordon CM, Baim S, Binkley N, Bilezikian JP, et al. (2008) Special report on the 2007 adult and pediatric Position Development Conferences of the International Society for Clinical Densitometry. Osteoporos Int 19: 1369-1378.
3. Clarke B, (2008) Normal bone anatomy and physiology. Clin J Am Soc Nephrol 3 (Suppl 3): S131-139.
4. Yerges LM, Klei L, Cauley JA, Roeder K, Kammerer CM, et al. (2009) High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. J Bone Miner Res 24: 2039-2049.
5. Duncan EL, Cardon LR, Sinsheimer JS, Wass JA, Brown MA, (2003) Site and gender specificity of inheritance of bone mineral density. J Bone Miner Res 18: 1531-1538.
6. Rizzoli R, Bonjour JP, Ferrari SL, (2001) Osteoporosis, genetics and hormones. J Mol Endocrinol 26: 79-94.
7. Loro ML, Sayre J, Roe TF, Goran MI, Kaufman FR, et al. (2000) Early identification of children predisposed to low peak bone mass and osteoporosis later in life. J Clin Endocrinol Metab 85: 3908-3918.
8. Holroyd C, Harvey N, Dennison E, Cooper C, (2012) Epigenetic influences in the developmental origins of osteoporosis. Osteoporos Int 23: 401-410.
9. Timpson NJ, Tobias JH, Richards JB, Soranzo N, Duncan EL, et al. (2009) Common variants in the region around Osterix are associated with bone mineral density and growth in childhood. Hum Mol Genet 18: 1510-1517.
10. Rivadeneira F, Styrkarsdottir U, Estrada K, Halldorsson BV, Hsu YH, et al. (2009) Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat Genet 41: 1199-1206.
11. Styrkarsdottir U, Halldorsson BV, Gretarsdottir S, Gudbjartsson DF, Walters GB, et al. (2008) Multiple genetic loci for bone mineral density and fractures. N Engl J Med 358: 2355-2365.
12. Li Y, Willer C, Sanna S, Abecasis G, (2009) Genotype imputation. Annu Rev Genomics Hum Genet 10: 387-406.
13. Kelly TL, Wilson KE, Heymsfield SB, (2009) Dual energy X-Ray absorptiometry body composition reference values from NHANES. PLoS ONE 4: e7038 doi:10.1371/journal.pone.0007038.
14. Milat F, Ng KW, (2009) Is Wnt signalling the final common pathway leading to bone formation? Mol Cell Endocrinol 310: 52-62.
15. Krishnan V, Bryant HU, Macdougald OA, (2006) Regulation of bone mass by Wnt signaling. J Clin Invest 116: 1202-1209.
16. Zhu Y, Xu G, Patel A, McLaughlin MM, Silverman C, et al. (2002) Cloning, expression, and initial characterization of a novel cytokine-like gene family. Genomics 80: 144-150.
17. Reppe S, Refvem H, Gautvik VT, Olstad OK, Hovring PI, et al. (2010) Eight genes are highly associated with BMD variation in postmenopausal Caucasian women. Bone 46: 604-612.
18. Cho YS, Go MJ, Kim YJ, Heo JY, Oh JH, et al. (2009) A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat Genet 41: 527-534.
19. Zhang LS, Hu HG, Liu YJ, Li J, Yu P, et al. (2011) A follow-up association study of two genetic variants for bone mineral density variation in Caucasians. Osteoporos Int.
20. Yang J, Benyamin B, McEvoy BP, Gordon S, Henders AK, et al. (2010) Common SNPs explain a large proportion of the heritability for human height. Nat Genet 42: 565-569.
21. Rawlinson SC, McKay IJ, Ghuman M, Wellmann C, Ryan P, et al. (2009) Adult rat bones maintain distinct regionalized expression of markers associated with their development. PLoS ONE 4: e8358 doi:10.1371/journal.pone.0008358.
22. Fear MW, Kelsell DP, Spurr NK, Barnes MR, (2000) Wnt-16a, a novel Wnt-16 isoform, which shows differential expression in adult human tissues. Biochem Biophys Res Commun 278: 814-820.
23. Clements WK, Kim AD, Ong KG, Moore JC, Lawson ND, et al. (2011) A somitic Wnt16/Notch pathway specifies haematopoietic stem cells. Nature 474: 220-224.
24. Dell'accio F, De Bari C, Eltawil NM, Vanhummelen P, Pitzalis C, (2008) Identification of the molecular response of articular cartilage to injury, by microarray screening: Wnt-16 expression and signaling after injury and in osteoarthritis. Arthritis Rheum 58: 1410-1421.
25. Wood AR, Hernandez DG, Nalls MA, Yaghootkar H, Gibbs JR, et al. (2011) Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association. Hum Mol Genet 20: 4082-4092.
26. Jaddoe VW, van Duijn CM, van der Heijden AJ, Mackenbach JP, Moll HA, et al. (2010) The Generation R Study: design and cohort update 2010. Eur J Epidemiol 25: 823-841.
27. Golding J, Pembrey M, Jones R, Team AS, (2001) ALSPAC-the Avon Longitudinal Study of Parents and Children. I. Study methodology. Paediatr Perinat Epidemiol 15: 74-87.
28. Paternoster L, Howe LD, Tilling K, Weedon MN, Freathy RM, et al. (2011) Adult height variants affect birth length and growth rate in children. Hum Mol Genet 20: 4069-4075.
29. Lorentzon M, Swanson C, Andersson N, Mellstrom D, Ohlsson C, (2005) Free testosterone is a positive, whereas free estradiol is a negative, predictor of cortical bone size in young Swedish men: the GOOD study. J Bone Miner Res 20: 1334-1341.
30. Lorentzon M, Mellstrom D, Ohlsson C, (2005) Age of attainment of peak bone mass is site specific in Swedish men-The GOOD study. J Bone Miner Res 20: 1223-1227.
31. Hofman A, van Duijn CM, Franco OH, Ikram MA, Janssen HL, et al. (2011) The Rotterdam Study: 2012 objectives and design update. Eur J Epidemiol 26: 657-686.
32. Estrada K, Abuseiris A, Grosveld FG, Uitterlinden AG, Knoch TA, et al. (2009) GRIMP: a web- and grid-based tool for high-speed analysis of large-scale genome-wide association using imputed data. Bioinformatics 25: 2750-2752.