Post-genome wide association studies and functional analyses identify association of MPP7 gene variants with site-specific bone mineral density

Human Molecular Genetics

Volumn 21, Issue 7, 2012, Pages 1648-1657

  Xiao, Su Mei ^a,b   Kung, Annie Wai Chee ^a   Gao, Yi ^a   Lau, Kam Shing ^a   Ma, Alvin ^a   Zhang, Zhen Lin ^c   Liu, Jian Min ^d,e   Xia, Wiebo ^f   He, Jin Wei ^c   Zhao, Lin ^d,e   Nie, Min ^f   Fu, Wei Zhen ^c   Zhang, Min Jia ^d,e   Sun, Jing ^f   Kwan, Johnny S H ^a   Tso, Gloria Hoi Wan ^a   Dai, Zhi Jie ^a   Cheung, Ching Lung ^a   Bow, Cora H ^a   Leung, Anskar Yu Hung ^a   Tan, Kathryn Choon Beng ^a   Sham, Pak Chung ^a   more..

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b UNIVERSITY OF HONG KONG   (Hong Kong)

^c SHANGHAI JIAO TONG UNIVERSITY   (China)

^d SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^e Shanghai Clinical Center for Endocrine and Metabolic Diseases   (China)

^f PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; TRANSCRIPTION FACTOR GATA 2;

ADULT; ALLELE; ANIMAL CELL; ARTICLE; BONE DENSITY; BONE DEVELOPMENT; BONE MASS; CELL INCLUSION; CELL MEMBRANE; FEMALE; GEL MOBILITY SHIFT ASSAY; GENE; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE MAP; HIP; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MALE; MPP7 GENE; NONHUMAN; OSTEOBLAST; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPINE;

ALLELES; ANIMALS; BINDING SITES; BONE DENSITY; CELL LINE; FEMALE; GATA2 TRANSCRIPTION FACTOR; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HAPMAP PROJECT; HUMANS; MALE; MEMBRANE PROTEINS; MICE; OSTEOBLASTS; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, MESSENGER; ZEBRAFISH; ZEBRAFISH PROTEINS;

DANIO RERIO; MURINAE;

EID: 84863247591     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr586     Document Type: Article

References (28)

1. Ng, M.Y., Sham, P.C., Paterson, A.D., Chan, V. and Kung, A.W.C. (2006) Effect of environmental factors and gender on the heritability of bone mineral density and bone size. Ann. Hum. Genet., 70, 428-438.
2. Cheung, C.-L., Xiao, S.-M. and Kung, A.W.C. (2010) Genetic epidemiology of age-related osteoporosis and its clinical applications. Nat. Rev. Rheumatol., 6, 507-517.
3. Rivadeneira, F., Styrkársdottir, U., Estrada, K., Halldórsson, B.V., Hsu, Y.H., Richards, J.B., Zillikens, M.C., Kavvoura, F.K., Amin, N., Aulchenko, Y.S. et al. (2009) Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat. Genet., 41, 1199-1206.
4. Kung, A.W.C., Xiao, S.-M., Cherny, S., Li, G., Gao, Y., Tso, G.H.W., Lau, K.-S., Luk, K.D.K., Liu, J., Cui, B. et al. (2010) Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies. Am. J. Hum. Genet., 86, 229-239.
5. International HapMap Consortium. (2007) A second generation human haplotype map of over 3.1 million SNPs. Nature, 449, 851-861.
6. Styrkarsdottir, U., Halldorsson, B.V., Gretarsdottir, S., Gudbjartsson, D.F., Walters, G.B., Ingvarsson, T., Jonsdottir, T., Saemundsdottir, J., Center, J.R., Nguyen, T.V. et al. (2008) Multiple genetic loci for bone mineral density and fractures. N. Engl. J. Med., 358, 2355-2365.
7. 1000 Genomes Project Consortium. (2010) A map of human genome variation from population-scale sequencing. Nature, 467, 1061-1073.
8. Yuan, H.Y., Chiou, J.J., Tseng, W.H., Liu, C.H., Liu, C.K., Lin, Y.J., Wang, H.H., Yao, A., Chen, Y.T. and Hsu, C.N. (2006) FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. Nucleic Acids Res., 34, W635-W641.
9. Konig, C., Yan, Y.L., Postlethwait, J., Wendler, S. and Campos-Ortega, J.A. (1999) A recessive mutation leading to vertebral ankylosis in zebrafish is associated with amino acid alterations in the homologue of the human membrane-associated guanylate kinase DLG3. Mech. Dev., 86, 17-28.
10. Veyrieras, J.B., Kudaravalli, S., Kim, S.Y., Dermitzakis, E.T., Gilad, Y., Stephens, M. and Pritchard, J.K. (2008) High-resolution mapping of expression-QTLs yields insight into human gene regulation. PLoS Genet., 4, e1000214.
11. Dixon, A.L., Liang, L., Moffatt, M.F., Chen, W., Heath, S., Wong, K.C.C., Taylor, J., Gut, I., Farrall, M., Lathrop, G.M. et al. (2007) A whole-genome association study of global gene expression. Nat. Genet., 39, 1202-1207.
12. Estrada, K., Thorleifsson, G., Evangelou, E., Koller, D., Richards, B.J., Yerges-Armstrong, L.M., Vandenput, L., Amin, N., Glazer, N., Albagha, O.M.E. et al. (2010) Meta-analysis of Genome-wide Association Studies Identifies 34 loci that Regulate BMD with Evidence of Both Site Specific and Generalized Effects: the GEFOS Consortium. 32nd ASBMR Annual Meeting, Toronto, Canada.
13. Shea, J., Agarwala, V., Philippakis, A.A., Maguire, J., Banks, E., Depristo, M., Thomson, B., Guiducci, C., Onofrio, R.C., Kathiresan, S. et al. (2011) Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction. Nat. Genet., 43, 801-805.
14. Gudbjartsson, D.F., Arnar, D.O., Helgadottir, A., Gretarsdottir, S., Holm, H., Sigurdsson, A., Jonasdottir, A., Baker, A., Thorleifsson, G., Kristjansson, K. et al. (2007) Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature, 448, 353-357.
15. Paternoster, L., Lorentzon, M., Vandenput, L., Karlsson, M.K., Ljunggren, O., Kindmark, A., Mellstrom, D., Kemp, J.P., Jarett, C.E., Holly, J.M. et al. (2010) Genome-wide association meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential pleiotropic effects on bone. PLoS Genet., 6, e1001217.
16. Thorleifsson, G., Walters, G.B., Hewitt, A.W., Masson, G., Helgason, A., DeWan, A., Sigurdsson, A., Jonasdottir, A., Gudjonsson, S.A., Magnusson, K.P. et al. (2010) Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat. Genet., 42, 906-909.
17. Hamanoue, H., Megarbane, A., Tohma, T., Nishimura, A., Mizuguchi, T., Saitsu, H., Sakai, H., Miura, S., Toda, T., Miyake, N. et al. (2009) A locus for ophthalmo-acromelic syndrome mapped to 10p11.23. Am. J. Med. Genet. A, 149A, 336-342.
18. Stucke, V.M., Timmerman, E., Vandekerckhove, J., Gevaert, K. and Hall, A. (2007) The MAGUK protein MPP7 binds to the polarity protein hDlg1 and facilitates epithelial tight junction formation. Mol. Biol. Cell, 18, 1744-1755.
19. Pandolfi, P.P., Roth, M.E., Karis, A., Leonard, M.W., Dzierzak, E., Grosveld, F.G., Engel, J.D. and Lindenbaum, M.H. (1995) Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis. Nat. Genet., 11, 40-44.
20. Debacker, C., Catala, M. and Labastie, M.C. (1999) Embryonic expression of the human GATA-3 gene. Mech. Dev., 85, 183-187.
21. Pimanda, J.E., Silberstein, L., Dominici, M., Dekel, B., Bowen, M., Oldham, S., Kallianpur, A., Brandt, S.J., Tannahill, D., Göttgens, B. et al. (2006) Transcriptional link between blood and bone: the stem cell leukemia gene and its +19 stem cell enhancer are active in bone cells. Mol. Cell Biol., 26, 2615-2625.
22. Suh, Y.H., Kim, W.H., Moon, C., Hong, Y.H., Eun, S.Y., Lim, J.H., Choi, J.S., Song, J. and Jung, M.H. (2005) Ectopic expression of Neuronatin potentiates adipogenesis through enhanced phosphorylation of cAMP-response element-binding protein in 3T3-L1 cells. Biochem. Biophys. Res. Commun., 337, 481-489.
23. Marchini, J., Howie, B., Myers, S., McVean, G. and Donnelly, P. (2007) A new multipoint method for genome-wide association studies by imputation of genotypes. Nat. Genet., 39, 906-913.
24. Sham, P.C., Purcell, S., Cherny, S.S. and Abecasis, G.R. (2002) Powerful regression-based quantitative-trait linkage analysis of general pedigrees. Am. J. Hum. Genet., 71, 238-253.
25. Kwan, J.S.H., Kung, A.W.C. and Sham, P.C. (2011) A simple bias correction in linear regression for quantitative trait association under two-tail extreme selection. Behav. Genet., 41, 776-779.
26. Ma, A.C., Chung, M.I., Liang, R. and Leung, A.Y.H. (2010) A DEAB-sensitive aldehyde dehydrogenase regulates hematopoietic stem and progenitor cells development during primitive hematopoiesis in zebrafish embryos. Leukemia, 24, 2090-2099.
27. Kelly, W.L. and Bryden, M.M. (1983) A modified differential stain for cartilage and bone in whole mount preparations of mammalian fetuses and small vertebrates. Stain Technol., 58, 131-134.
28. Gartland, A., Buckley, K.A., Dillon, J.P., Curran, J.M., Hunt, J.A. and Gallagher, J.A. (2005) Isolation and culture of human osteoblasts. Methods Mol. Med., 107, 29-54.