A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation

Human Molecular Genetics

Volumn 18, Issue 18, 2009, Pages 3516-3524

  Estrada, Karol ^a   Krawczak, Michael ^b,c   Schreiber, Stefan ^b,c   van Duijn, Kate ^a   Stolk, Lisette ^a   van Meurs, Joyce B J ^a   Liu, Fan ^a   Penninx, Brenda W J H ^d   Smit, Jan H ^d   Vogelzangs, Nicole ^d   Hottenga, Jouke Jan ^d   Willemsen, Gonneke ^d   de Geus, Eco J C ^d   Lorentzon, Mattias ^e   von Eller Eberstein, Huberta ^b   Lips, Paul ^d   Schoor, Natascha ^d   Pop, Victor ^f   de Keijzer, Jules ^f   Hofman, Albert ^a   Aulchenko, Yurii S ^a,g   Oostra, Ben A ^a   Ohlsson, Claes ^e   Boomsma, Dorret I ^d   Uitterlinden, Andre G ^a   van Duijn, Cornelia M ^a   Rivadeneira, Fernando ^a   Kayser, Manfred ^a   more..

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF KIEL   (Germany)

^c UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF GOTHENBURG   (Sweden)

^f TILBURG UNIVERSITY   (Netherlands)

^g INSTITUTE OF CYTOLOGY AND GENETICS   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

NATRIURETIC FACTOR; NATRIURETIC PEPTIDE RECEPTOR 3; NATRIURETIC PEPTIDE TYPE C; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BODY HEIGHT; CHROMOSOME 2Q; CONTROLLED STUDY; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; NETHERLANDS; PHYSICAL DISABILITY; POPULATION RESEARCH; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

BODY HEIGHT; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE EXPRESSION REGULATION; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; GERMANY; HUMANS; MALE; MIDDLE AGED; NATRIURETIC PEPTIDE, C-TYPE; NETHERLANDS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN PRECURSORS; RECEPTORS, ATRIAL NATRIURETIC FACTOR; SIGNAL TRANSDUCTION;

EID: 69449090375     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp296     Document Type: Article

References (40)

1. Weedon, M.N. and Frayling, T.M. (2008) Reaching new heights: Insights into the genetics of human stature. Trends Genet., 24, 595-603.
2. Gudbjartsson, D.F., Walters, G.B., Thorleifsson, G., Stefansson, H., Halldorsson, B.V., Zusmanovich, P., Sulem, P., Thorlacius, S., Gylfason, A., Steinberg, S. et al. (2008) Many sequence variants affecting diversity of adult human height. Nat. Genet., 40, 609-615.
3. Lettre, G., Jackson, A.U., Gieger, C., Schumacher, F.R., Berndt, S.I., Sanna, S., Eyheramendy, S., Voight, B.F., Butler, J.L., Guiducci, C. et al. (2008) Identification of ten loci associated with height highlights new biological pathways in human growth. Nat. Genet., 40, 584-591.
4. Visscher, P.M. (2008) Sizing up human height variation. Nat. Genet. 40, 489-490.
5. Weedon, M.N., Lango, H., Lindgren, C.M., Wallace, C., Evans, D.M., Mangino, M., Freathy, R.M., Perry, J.R., Stevens, S., Hall, A.S. et al. (2008) Genome-wide association analysis identifies 20 loci that influence adult height. Nat. Genet., 40, 575-583.
6. Johansson, A., Marroni, F., Hayward, C., Franklin, C.S., Kirichenko, A.V., Jonasson, I., Hicks, A.A., Vitart, V., Isaacs, A., Axenovich, T. et al. (2009) Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. Hum. Mol. Genet., 18, 373-380.
7. Lei, S.F., Yang, T.L., Tan, L.J., Chen, X.D., Guo, Y., Guo, Y.F., Zhang, L., Liu, X.G., Yan, H., Pan, F. et al. (2009) Genome-wide association scan for stature in Chinese: Evidence for ethnic specific loci. Hum. Genet., 125, 1-9.
8. Sanna, S., Jackson, A.U., Nagaraja, R., Willer, C.J., Chen, W.M., Bonnycastle, L.L., Shen, H., Timpson, N., Lettre, G., Usala, G. et al. (2008) Common variants in the GDF5-UQCC region are associated with variation in human height. Nat. Genet., 40, 198-203.
9. Weedon, M.N., Lettre, G., Freathy, R.M., Lindgren, C.M., Voight, B.F., Perry, J.R., Elliott, K.S., Hackett, R., Guiducci, C., Shields, B. et al. (2007) A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat. Genet., 39, 1245-1250.
10. Sammalisto, S., Hiekkalinna, T., Schwander, K., Kardia, S., Weder, A.B., Rodriguez, B.L., Doria, A., Kelly, J.A., Bruner, G.R., Harley, J.B. et al. (2009) Genome-wide linkage screen for stature and body mass index in 3.032 families: Evidence for sex- and population-specific genetic effects. Eur. J. Hum. Genet., 17, 258-266.
11. Lei, S.F., Tan, L.J., Liu, X.G., Wang, L., Yan, H., Guo, Y.F., Liu, Y.Z., Xiong, D.H., Li, J., Yang, T.L. et al. (2008) Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation. Hum. Mol. Genet., 18, 1661-1669.
12. Silventoinen, K., Kaprio, J., Lahelma, E. and Koskenvuo, M. (2000) Relative effect of genetic and environmental factors on body height: differences across birth cohorts among Finnish men and women. Am. J. Public Health., 90, 627-630.
13. Cole, T.J. (2003) The secular trend in human physical growth: A biological view. Econ. Hum. Biol., 1, 161-168.
14. Garcia, J. and Quintana-Domeque, C. (2007) The evolution of adult height in Europe: A brief note. Econ. Hum. Biol., 5, 340-349.
15. Lao, O., Lu, T.T., Nothnagel, M., Junge, O., Freitag-Wolf, S., Caliebe, A., Balascakova, M., Bertranpetit, J., Bindoff, L.A., Comas, D. et al. (2008) Correlation between genetic and geographic structure in Europe. Curr. Biol., 18, 1241-1248.
16. Pe'er, I., Yelensky, R., Altshuler, D. and Daly, M.J. (2008) Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet. Epidemiol., 32, 381-385.
17. Devlin, B. and Roeder, K. (1999) Genomic control for association studies. Biometrics, 55, 997-1004.
18. Soranzo, N., Rivadeneira, F., Chinappen-Horsley, U., Malkina, I., Richards, J.B., Hammond, N., Stolk, L., Nica, A., Inouye, M., Hofman, A. et al. (2009) Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. PLoS Genet., 5, e1000445.
19. Bocciardi, R., Giorda, R., Buttgereit, J., Gimelli, S., Divizia, M.T., Beri, S., Garofalo, S., Tavella, S., Lerone, M., Zuffardi, O. et al. (2007) Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation. Hum. Mutat., 28, 724-731.
20. Gilbert, S. (2003) Paraxial and Intermediate Mesoderm., Sinauer Associates, Sunderland, MA.
21. Yasoda, A., Komatsu, Y., Chusho, H., Miyazawa, T., Ozasa, A., Miura, M., Kurihara, T., Rogi, T., Tanaka, S., Suda, M. et al. (2004) Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. Nat. Med., 10, 80-86.
22. Matsukawa, N., Grzesik, W.J., Takahashi, N., Pandey, K.N., Pang, S., Yamauchi, M. and Smithies, O. (1999) The natriuretic peptide clearance receptor locally modulates the physiological effects of the natriuretic peptide system. Proc. Natl Acad. Sci. USA, 96, 7403-7408.
23. Pejchalova, K., Krejci, P. and Wilcox, W.R. (2007) C-natriuretic peptide: An important regulator of cartilage. Mol. Genet. Metab., 92, 210-215.
24. Kaneki, H., Kurokawa, M. and Ide, H. (2008) The receptor attributable to C-type natriuretic peptide-induced differentiation of osteoblasts is switched from type B- to type C-natriuretic peptide receptor with aging. J. Cell. Biochem., 103, 753-764.
25. Price, A.L., Patterson, N.J., Plenge, R.M., Weinblatt, M.E., Shadick, N.A. and Reich, D. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet., 38, 904-909.
26. de Bakker, P.I., Ferreira, M.A., Jia, X., Neale, B.M., Raychaudhuri, S. and Voight, B.F. (2008) Practical aspects of imputation-driven meta-analysis of genome-wide association studies. Hum. Mol. Genet. 17, R122-R128.
27. Hofman, A., Breteler, M.M., van Duijn, C.M., Krestin, G.P., Pols, H.A., Stricker, B.H., Tiemeier, H., Uitterlinden, A.G., Vingerling, J.R. and Witteman, J.C. (2007) The Rotterdam study: Objectives and design update. Eur. J. Epidemiol., 22, 819-829.
28. Hofman, A., Grobbee, D.E., de Jong, P.T. and van den Ouweland, F.A. (1991) Determinants of disease and disability in the elderly: The Rotterdam elderly study. Eur. J. Epidemiol., 7, 403-422.
29. Aulchenko, Y.S., Heutink, P., Mackay, I., Bertoli-Avella, A.M., Pullen, J., Vaessen, N., Rademaker, T.A., Sandkuijl, L.A., Cardon, L., Oostra, B. et al. (2004) Linkage disequilibrium in young genetically isolated Dutch population. Eur. J. Hum. Genet., 12, 527-534.
30. Smeets-Goevaers, C.G., Lesusink, G.L., Papapoulos, S.E., Maartens, L.W., Keyzer, J.J., Weerdenburg, J.P., Beijers, L.M., Zwinderman, A.H., Knottnerus, J.A., Pols, H.A. et al. (1998) The prevalence of low bone mineral density in Dutch perimenopausal women: The Eindhoven perimenopausal osteoporosis study. Osteoporos. Int., 8, 404-409.
31. Knipscheer, C.P., Dykstra, P.A., van Tilburg, T.G. and de Jong-Gierveld, J. (1998) Living arrangements and social networks of elders. A selection of findings from a NESTOR-Study Leefvormen en sociale netwerken van ouderen. Een selectie van bevindingen uit een NESTOR-Studie. Tijdschr. Gerontol. Geriatr., 29, 110-119.
32. Penninx, B.W., Beekman, A.T., Smit, J.H., Zitman, F.G., Nolen, W.A., Spinhoven, P., Cuijpers, P., De Jong, P.J., Van Marwijk, H.W., Assendelft, W.J. et al. (2008) The Netherlands Study of Depression and Anxiety (NESDA): Rationale, objectives and methods. Int. J. Methods Psychiatr. Res., 17, 121-140.
33. Boomsma, D.I., de Geus, E.J., Vink, J.M., Stubbe, J.H., Distel, M.A., Hottenga, J.J., Posthuma, D., van Beijsterveldt, T.C., Hudziak, J.J., Bartels, M. et al. (2006) Netherlands Twin Register: From twins to twin families. Twin Res. Hum. Genet., 9, 849-857.
34. Lorentzon, M., Swanson, C., Andersson, N., Mellstrom, D. and 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.
35. Sullivan, P.F., de Geus, E.J., Willemsen, G., James, M.R., Smit, J.H., Zandbelt, T., Arolt, V., Baune, B.T., Blackwood, D., Cichon, S. et al. (2008) Genome-wide association for major depressive disorder: A possible role for the presynaptic protein piccolo. Mol. Psychiatry 14, 359-375.
36. Li, Y. and Abecasis, G.R. (2006) Mach 1.0: Rapid haplotype reconstruction and missing genotype inference. Am. J. Hum. Genet., S79, 2290.
37. 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.
38. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J. et al. (2007) PLINK: A tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.
39. Aulchenko, Y.S., Ripke, S., Isaacs, A. and van Duijn, C.M. (2007) GenABEL: An R library for genome-wide association analysis. Bioinformatics (Oxford, England), 23, 1294-1296.
40. Johnson, A.D., Handsaker, R.E., Pulit, S.L., Nizzari, M.M., O'Donnell, C.J. and de Bakker, P.I. (2008) SNAP: A web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics (Oxford, England), 24, 2938-2939.